Mapping increased flexibility and conformational divergence via N-terminal helix-to-coil transition in USP12 mutant Y49N: a comprehensive in-detail normal mode simulation study.

Συγγραφείς: Bhattacharya I; Amity Institute of Biotechnology, Amity University, Kolkata, W.B., India., Paul I; Amity Institute of Biotechnology, Amity University, Kolkata, W.B., India., Saha M; Amity Institute of Biotechnology, Amity University, Kolkata, W.B., India.; Department of Zoology, Seth Anandram Jaipuria College, Kolkata, W.B., India., Ray S; Amity Institute of Biotechnology, Amity University, Kolkata, W.B., India. raysujay@gmail.com.

Πηγή: Journal of biological physics [J Biol Phys] 2026 Jun 26; Vol. 52 (1). Date of Electronic Publication: 2026 Jun 26.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0417731 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-0689 (Electronic) Linking ISSN: 00920606 NLM ISO Abbreviation: J Biol Phys Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Ubiquitin Thiolesterase*/chemistry , Ubiquitin Thiolesterase*/genetics , Mutant Proteins*/chemistry , Mutant Proteins*/genetics , Mutation* , Molecular Dynamics Simulation*, Humans ; Models, Molecular ; Amino Acid Sequence ; Protein Conformation

Improve genetic quality control to increase rigor and reproducibility of mouse research.

Συγγραφείς: Pardo-Manuel de Villena F; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA.; Lineberger Comprehensive Cancer Center, School of Medicine, UNC-CH, Chapel Hill, NC, USA., Amos-Landgraf JM; MMRRC-MU, Department of Pathobiology and Integrative Biosciences, University of Missouri, Columbia, MO, USA., Bell TA; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA., Blanchard MW; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA., Brennan J; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA., Carlson C; MMRRC-ICSC (Informatics, Coordination and Service Center), Genome Center, University of California-Davis (UC-D), Davis, CA, USA., Ciavatta DJ; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA.; UNC Kidney Center, School of Medicine, UNC-CH, Chapel Hill, NC, USA., Cotney PA; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA., Ferris MT; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA., Hock P; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA., Korf I; MMRRC-ICSC (Informatics, Coordination and Service Center), Genome Center, University of California-Davis (UC-D), Davis, CA, USA.; Department of Molecular and Cellular Biology, College of Biological Sciences, UC-D, Davis, CA, USA., Lloyd KCK; Department of Molecular and Cellular Biology, College of Biological Sciences, UC-D, Davis, CA, USA.; Department of Surgery, School of Medicine, UC-D, Sacramento, CA, USA.; MMRRC-UC Davis and Mouse Biology Program, UC-D, Davis, CA, USA., Lutz C; The Jackson Laboratory, Bar Harbor, ME, USA., Lynch RM; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA., Magnuson T; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA.; Lineberger Comprehensive Cancer Center, School of Medicine, UNC-CH, Chapel Hill, NC, USA., Murray SA; The Jackson Laboratory, Bar Harbor, ME, USA., Patel S; MMRRC-ICSC (Informatics, Coordination and Service Center), Genome Center, University of California-Davis (UC-D), Davis, CA, USA., Reinholdt LG; The Jackson Laboratory, Bar Harbor, ME, USA., Sigmon JS; MMRRC-UNC, UNC-CH, Chapel Hill, NC, USA.; Department of Computer Science, UNC-CH, Chapel Hill, NC, USA., Willis B; MMRRC-UC Davis and Mouse Biology Program, UC-D, Davis, CA, USA., Xenakis JG; Department of Genetics, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC, USA.

Πηγή: Science (New York, N.Y.) [Science] 2026 May 14; Vol. 392 (6799), pp. 698-700. Date of Electronic Publication: 2026 May 14.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Animal Experimentation*/standards , Mice, Mutant Strains*/genetics , Quality Control*, Animals ; Mice ; Reproducibility of Results

Rapid microfluidic sample preparation for mass spectrometric analysis of wild-type and mutant BRAF protein.

Συγγραφείς: Lin YH; Department of Biomedical Engineering, Chang Gung University, Taoyuan City, Taiwan; Department of Laboratory Medicine, Linkou Chang Gung Memorial Hospital, Taoyuan City, Taiwan. Electronic address: yenheng@mail.cgu.edu.tw., Chang HY; Department of Biomedical Engineering, Chang Gung University, Taoyuan City, Taiwan., Wu CC; Molecular Medicine Research Center, Chang Gung University, Taoyuan City, Taiwan., Hsiao YC; Molecular Medicine Research Center, Chang Gung University, Taoyuan City, Taiwan; Graduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan City, Taiwan; Department of Otolaryngology-Head and Neck Surgery, Chang Gung Memorial Hospital at Linkou, Taoyuan City, Taiwan., Wen YH; Department of Laboratory Medicine, Linkou Chang Gung Memorial Hospital, Taoyuan City, Taiwan; School of Medicine, National Tsing Hua University, Hsinchu City, Taiwan; School of Medicine, Chang Gung University, Taoyuan City, Taiwan., Yu JS; Molecular Medicine Research Center, Chang Gung University, Taoyuan City, Taiwan; Graduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan City, Taiwan; Department of Otolaryngology-Head and Neck Surgery, Chang Gung Memorial Hospital at Linkou, Taoyuan City, Taiwan; Research Center for Food and Cosmetic Safety, College of Human Ecology, Chang Gung University of Science and Technology, 33302, Taoyuan, Taiwan. Electronic address: yusong@mail.cgu.edu.tw.

Πηγή: Analytica chimica acta [Anal Chim Acta] 2026 Mar 15; Vol. 1391, pp. 345146. Date of Electronic Publication: 2026 Jan 23.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0370534 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4324 (Electronic) Linking ISSN: 00032670 NLM ISO Abbreviation: Anal Chim Acta Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Proto-Oncogene Proteins B-raf*/genetics , Proto-Oncogene Proteins B-raf*/analysis , Microfluidic Analytical Techniques*/instrumentation , Mutant Proteins*/analysis , Mutant Proteins*/genetics, Humans ; Mass Spectrometry ; Mutation

Mutant huntingtin expression in somatostatin-positive interneurons contributes to neurophysiological and behavioral phenotypes in BACHD mice.

Συγγραφείς: Fowler JA; Department of Neurology, Killion Center for Neurodegeneration and Experimental Therapeutics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35294, USA.; Graduate Biomedical Sciences, Biochemistry and Structural Biology Theme, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35294, USA., Scarduzio M; Department of Neurology, Killion Center for Neurodegeneration and Experimental Therapeutics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35294, USA., Pool C; College of Arts and Sciences, Xavier University of Louisiana, New Orleans, LA 70125, USA.; Summer in Biomedical Sciences (SIBS) Undergraduate Research Program, The University of Alabama at Birmingham, Birmingham, AL 35294, USA., Mahan CD; Department of Neurology, Killion Center for Neurodegeneration and Experimental Therapeutics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35294, USA., Gray M; Department of Neurology, Killion Center for Neurodegeneration and Experimental Therapeutics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35294, USA.

Πηγή: Disease models & mechanisms [Dis Model Mech] 2026 Mar 01; Vol. 19 (3). Date of Electronic Publication: 2026 Mar 27.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Interneurons*/metabolism , Huntingtin Protein*/metabolism , Huntingtin Protein*/genetics , Somatostatin*/metabolism , Mutation*/genetics , Mutant Proteins*/metabolism , Behavior, Animal*, Anxiety/physiopathology ; Anxiety/complications ; Huntington Disease/physiopathology ; Animals ; Phenotype ; Male ; Motor Activity ; Mice

Impairment of neuronal activity occurs at the early stages of the aggregation cascade of Aβ1-42 and mutant Tau.

Συγγραφείς: Hirsch F; Department of Cell Biology, University of Bremen, Leobener Strasse 2, 28359 Bremen, Germany., F Läubli N; Molecular Neuroscience Group, Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa-Fawcett Drive, Cambridge CB3 0AS, UK., Kelkar A; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany., Sleiman M; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany., Woitzat Y; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany., Gallrein C; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany., Gumz V; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany., Kalsi GK; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany., Fernandez-Villegas A; Molecular Neuroscience Group, Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa-Fawcett Drive, Cambridge CB3 0AS, UK., Schierle GSK; Molecular Neuroscience Group, Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa-Fawcett Drive, Cambridge CB3 0AS, UK., Kirstein J; Leibniz Institute on Aging - Fritz-Lipmann-Institute, Beutenbergstrasse 11, 07745 Jena, Germany.; Friedrich-Schiller-Universität, Institute for Biochemistry & Biophysics, Hans Knöll-Strasse 2, 07745 Jena, Germany.

Πηγή: Disease models & mechanisms [Dis Model Mech] 2026 Mar 01; Vol. 19 (3). Date of Electronic Publication: 2026 Apr 01.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyloid beta-Peptides*/metabolism , tau Proteins*/metabolism , tau Proteins*/genetics , Neurons*/metabolism , Neurons*/pathology , Mutation*/genetics , Peptide Fragments*/metabolism , Mutant Proteins*/metabolism , Protein Aggregates* , Protein Aggregation, Pathological*, Caenorhabditis elegans/metabolism ; Aging/pathology ; Aging/metabolism ; Muscles/metabolism ; Muscles/pathology ; Calcium/metabolism ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Animals ; Proteotoxic Stress

Hepatic zonation determines tumorigenic potential of mutant β-catenin.

Συγγραφείς: Raven A; Cancer Research UK Scotland Institute, Glasgow, UK., Gilroy K; Cancer Research UK Scotland Institute, Glasgow, UK., Jin H; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Waldron JA; Cancer Research UK Scotland Institute, Glasgow, UK., Leslie H; School of Cancer Sciences, University of Glasgow, Glasgow, UK., Munro J; Cancer Research UK Scotland Institute, Glasgow, UK., Hall H; Cancer Research UK Scotland Institute, Glasgow, UK., Ridgway RA; Cancer Research UK Scotland Institute, Glasgow, UK., Ford CA; Cancer Research UK Scotland Institute, Glasgow, UK., Gulhan DC; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Vlahov N; Cancer Research UK Scotland Institute, Glasgow, UK., Mills ML; Cancer Research UK Scotland Institute, Glasgow, UK., Hartley A; Cancer Research UK Scotland Institute, Glasgow, UK., Anderson E; Cancer Research UK Scotland Institute, Glasgow, UK., Bryson S; Cancer Research UK Scotland Institute, Glasgow, UK., Sphyris N; Cancer Research UK Scotland Institute, Glasgow, UK., Müller M; Cancer Research UK Scotland Institute, Glasgow, UK., May S; Cancer Research UK Scotland Institute, Glasgow, UK.; School of Cancer Sciences, University of Glasgow, Glasgow, UK., Cadden B; Cancer Research UK Scotland Institute, Glasgow, UK., Nixon C; Cancer Research UK Scotland Institute, Glasgow, UK., Waddell SH; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Guest R; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; CRUK Scotland Centre, Glasgow, UK., Boulter L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; CRUK Scotland Centre, Glasgow, UK., Barker N; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Clevers H; Pharma, Research and Early Development (pRED) of F. Hoffmann-La Roche Ltd, Basel, Switzerland.; Oncode Institute, Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Center, Utrecht, the Netherlands., Zhu H; Children's Research Institute and Children's Research Institute Mouse Genome Engineering Core, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Ivaska J; Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland., Strathdee D; Cancer Research UK Scotland Institute, Glasgow, UK., Miller CJ; Cancer Research UK Scotland Institute, Glasgow, UK.; School of Cancer Sciences, University of Glasgow, Glasgow, UK.; CRUK Scotland Centre, Glasgow, UK., Jamieson NB; School of Cancer Sciences, University of Glasgow, Glasgow, UK.; CRUK Scotland Centre, Glasgow, UK., Bushell M; Cancer Research UK Scotland Institute, Glasgow, UK.; School of Cancer Sciences, University of Glasgow, Glasgow, UK., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Bird TG; Cancer Research UK Scotland Institute, Glasgow, UK.; School of Cancer Sciences, University of Glasgow, Glasgow, UK.; CRUK Scotland Centre, Glasgow, UK.; MRC Centre for Inflammation Research, The Queen's Medical Research Institute, University of Edinburgh, Edinburgh, UK., Sansom OJ; Cancer Research UK Scotland Institute, Glasgow, UK. o.sansom@crukscotlandinstitute.ac.uk.; School of Cancer Sciences, University of Glasgow, Glasgow, UK. o.sansom@crukscotlandinstitute.ac.uk.; CRUK Scotland Centre, Glasgow, UK. o.sansom@crukscotlandinstitute.ac.uk.

Πηγή: Nature [Nature] 2026 Jan; Vol. 649 (8097), pp. 739-748. Date of Electronic Publication: 2025 Nov 19.

Τύπος έκδοσης: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Ιατρικοί όροι (MeSH): beta Catenin*/genetics , beta Catenin*/metabolism , Liver*/pathology , Liver*/metabolism , Liver*/cytology , Carcinogenesis*/genetics , Carcinogenesis*/pathology , Mutation*/genetics , Liver Neoplasms*/pathology , Liver Neoplasms*/genetics , Liver Neoplasms*/metabolism , Mutant Proteins*/metabolism , Mutant Proteins*/genetics, Hepatocytes/metabolism ; Hepatocytes/pathology ; Hepatocytes/cytology ; Proto-Oncogene Proteins c-myc/metabolism ; Proto-Oncogene Proteins c-myc/genetics ; TOR Serine-Threonine Kinases/metabolism ; Carcinoma, Hepatocellular/pathology ; Carcinoma, Hepatocellular/genetics ; Cyclin D1/metabolism ; Animals ; Mice ; Wnt Signaling Pathway ; Cell Proliferation ; Cell Differentiation ; Male ; Female ; Alleles ; MAP Kinase Signaling System ; Humans

Accurate Quantification of Mutant and Wild-Type polyQ Proteins Using Simple Western Capillary Immunoassays.

Συγγραφείς: Röttgering B; VICO Therapeutics B.V., J.H. Oortweg 21, 2333 CH, Leiden, The Netherlands.; Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Testerink J; VICO Therapeutics B.V., J.H. Oortweg 21, 2333 CH, Leiden, The Netherlands., Weij R; VICO Therapeutics B.V., J.H. Oortweg 21, 2333 CH, Leiden, The Netherlands., Beekman C; VICO Therapeutics B.V., J.H. Oortweg 21, 2333 CH, Leiden, The Netherlands., Datson N; VICO Therapeutics B.V., J.H. Oortweg 21, 2333 CH, Leiden, The Netherlands. nicole.datson@vicotx.com.

Πηγή: Molecular neurobiology [Mol Neurobiol] 2025 Oct; Vol. 62 (10), pp. 12768-12790. Date of Electronic Publication: 2025 May 31.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Peptides*/analysis , Peptides*/genetics , Peptides*/metabolism , Mutation*/genetics , Mutant Proteins*/analysis , Mutant Proteins*/metabolism , Blotting, Western*/methods, Immunoassay/methods ; Humans ; Huntingtin Protein ; Animals

Transcriptome-based classification in mice with ASD-risk mutations.

Συγγραφείς: Roh JD; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Jun Y; Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, Korea., Jeon H; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim J; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Yi Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim M; Department of Brain and Cognitive Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Cho H; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Oh Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Moon H; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim J; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim S; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Ryu J; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kang M; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim J; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Jung Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Yoo T; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Oh H; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim H; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Jin C; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Yang Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.; Digital Omics Research Center, Korea Basic Science Institute (KBSI), Cheongju, Chungbuk, Korea., Choi G; Therapeutics and Biotechnology Division, Korea Research Institute of Chemical Technology (KRICT), Daejeon, Korea., Ahn S; Therapeutics and Biotechnology Division, Korea Research Institute of Chemical Technology (KRICT), Daejeon, Korea., Kim JY; Digital Omics Research Center, Korea Basic Science Institute (KBSI), Cheongju, Chungbuk, Korea., Kang H; Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, Korea., Bae M; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim E; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.

Πηγή: Science (New York, N.Y.) [Science] 2026 Sep 17; Vol. 393 (6817), pp. 1250-1257. Date of Electronic Publication: 2026 Sep 17.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Autism Spectrum Disorder*/genetics , Single-Cell Gene Expression Analysis*/classification , Transcriptome*, Fluoxetine/pharmacology ; Prefrontal Cortex/metabolism ; Prefrontal Cortex/cytology ; Animals ; Female ; Male ; Mice ; Disease Models, Animal ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Mutation ; RNA-Seq ; Atlases as Topic ; Animals, Genetically Modified ; Mice, Mutant Strains

Minocycline and bone marrow-derived mononuclear cells as potential therapeutics for hereditary retinal degenerations.

Συγγραφείς: Videla-Ristol A; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain., Martínez-Vacas A; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain., García-Bernal D; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain.; Departamento de Bioquímica, Biología Molecular B e Inmunología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain., Vidal-Sanz M; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain., Villegas-Pérez MP; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain., García-Ayuso D; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain., Di Pierdomenico J; Departamento de Oftalmología, Facultad de Medicina, Universidad de Murcia, Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria-Virgen de la Arrixaca Pascual Parrilla (IMIB-Arrixaca), Murcia, Spain.

Πηγή: Acta ophthalmologica [Acta Ophthalmol] 2026 Sep; Vol. 104 (6), pp. e671-e685. Date of Electronic Publication: 2026 Mar 10.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Minocycline*/administration & dosage , Minocycline*/therapeutic use , Retinal Degeneration*/therapy , Retinal Degeneration*/diagnosis , Bone Marrow Transplantation*/methods, Anti-Bacterial Agents/administration & dosage ; Animals ; Rats ; Disease Models, Animal ; Tomography, Optical Coherence ; Intravitreal Injections ; Rats, Mutant Strains

Charcot-Marie-Tooth disease variants of HSPB1 progressively alter neuromuscular signalling.

Συγγραφείς: Aolymat I; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK., Barclay JW; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK.

Πηγή: Disease models & mechanisms [Dis Model Mech] 2026 Aug 01; Vol. 19 (8). Date of Electronic Publication: 2026 Aug 28.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/metabolism , Caenorhabditis elegans*/metabolism , Caenorhabditis elegans*/drug effects , Caenorhabditis elegans*/genetics , Signal Transduction*/drug effects , HSP27 Heat-Shock Proteins*/genetics , HSP27 Heat-Shock Proteins*/metabolism , Caenorhabditis elegans Proteins*/genetics , Caenorhabditis elegans Proteins*/metabolism , Neuromuscular Junction*/metabolism , Neuromuscular Junction*/drug effects , Muscles*/pathology , Muscles*/metabolism , Heat-Shock Proteins*/genetics , Heat-Shock Proteins*/metabolism, Mutation/genetics ; Aging/metabolism ; Aldicarb/pharmacology ; Mutant Proteins/metabolism ; Animals ; Molecular Chaperones ; Animals, Genetically Modified ; Humans

Small molecules restore mutant mitochondrial DNA polymerase activity.

Συγγραφείς: Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Zhu X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Macao B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Stamgren M; Pretzel Therapeutics, Mölndal, Sweden., Geukens C; Pretzel Therapeutics, Mölndal, Sweden., Charifson PS; Pretzel Therapeutics, Waltham, MA, USA., Kern G; Pretzel Therapeutics, Waltham, MA, USA., Hoberg E; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Jenninger L; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Gruszczyk AV; Pretzel Therapeutics, Mölndal, Sweden., Lee S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Johansson KAS; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Miralles Fusté J; Pretzel Therapeutics, Mölndal, Sweden., Shi Y; Pretzel Therapeutics, Mölndal, Sweden., Kerns SJ; Pretzel Therapeutics, Waltham, MA, USA., Arabanian L; Pretzel Therapeutics, Mölndal, Sweden., Martinez Botella G; Pretzel Therapeutics, Waltham, MA, USA., Ekström S; Pretzel Therapeutics, Mölndal, Sweden., Green J; Pretzel Therapeutics, Waltham, MA, USA., Griffin AM; Pretzel Therapeutics, Waltham, MA, USA., Pardo-Hernández C; Pretzel Therapeutics, Mölndal, Sweden., Keating TA; Pretzel Therapeutics, Waltham, MA, USA., Küppers-Munther B; Pretzel Therapeutics, Mölndal, Sweden., Larsson NG; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Phan C; Pretzel Therapeutics, Mölndal, Sweden., Posse V; Pretzel Therapeutics, Mölndal, Sweden., Jones JE; Pretzel Therapeutics, Waltham, MA, USA., Xie X; Pretzel Therapeutics, Mölndal, Sweden., Giroux S; Pretzel Therapeutics, Waltham, MA, USA. sgiroux@pretzeltx.com., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. claes.gustafsson@medkem.gu.se., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. maria.falkenberg@medkem.gu.se.

Πηγή: Nature [Nature] 2025 Jun; Vol. 642 (8067), pp. 501-507. Date of Electronic Publication: 2025 Apr 09.

Τύπος έκδοσης: Journal Article; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Ιατρικοί όροι (MeSH): DNA, Mitochondrial*/biosynthesis , DNA, Mitochondrial*/genetics , Mutation*/genetics , DNA-Directed DNA Polymerase*/metabolism , DNA-Directed DNA Polymerase*/genetics , DNA-Directed DNA Polymerase*/chemistry , Mitochondria*/enzymology , Mitochondria*/drug effects , Mitochondria*/genetics , Mitochondria*/metabolism , Mutant Proteins*/metabolism , Mutant Proteins*/genetics , Mutant Proteins*/chemistry, DNA Polymerase gamma/metabolism ; DNA Polymerase gamma/genetics ; DNA Polymerase gamma/chemistry ; Oxidative Phosphorylation/drug effects ; Catalytic Domain/drug effects ; Allosteric Site/drug effects ; Cell Respiration/drug effects ; DNA Replication/drug effects ; Mitochondrial Diseases/drug therapy ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/enzymology ; Humans ; Models, Molecular ; Animals ; Child ; Mice

The mouse resource at National Resource Center for Mutant Mice of China.

Συγγραφείς: Han B; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Chen D; National Resource Center for Mutant Mice, Model Animal Research Center of Nanjing University, Nanjing, China., Chen Z; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Wang T; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Zi K; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Feng R; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Yang X; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Li L; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China., Liang J; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China. liangjuan@gempharmatech.com., Gao X; National Resource Center for Mutant Mice, GemPharmatech Co., Ltd, Nanjing, China. gaoxiang@nju.edu.cn.; National Resource Center for Mutant Mice, Model Animal Research Center of Nanjing University, Nanjing, China. gaoxiang@nju.edu.cn.; GemPharmatech Co., Ltd., Guangdong, China. gaoxiang@nju.edu.cn.

Πηγή: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2025 Jun; Vol. 36 (2), pp. 512-522. Date of Electronic Publication: 2025 Mar 27.

Τύπος έκδοσης: Journal Article; Review; Research Support, Non-U.S. Gov't

Στοιχεία περιοδικού: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Mice, Mutant Strains*/genetics , Disease Models, Animal*, Animals ; Mice ; China ; Gene Editing ; Mice, Knockout ; Mutation

Mutant protein chemical rescue: From mechanisms to therapeutics.

Συγγραφείς: O'Meara TR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA., Palanski BA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA., Chen M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA., Qiao Y; Department of Pharmacology and Molecular Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., Cole PA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: pacole@bwh.harvard.edu.

Πηγή: The Journal of biological chemistry [J Biol Chem] 2025 Apr; Vol. 301 (4), pp. 108417. Date of Electronic Publication: 2025 Mar 18.

Τύπος έκδοσης: Journal Article; Review; Research Support, N.I.H., Extramural

Στοιχεία περιοδικού: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Mutant Proteins*/genetics , Mutant Proteins*/chemistry , Mutant Proteins*/metabolism , Protein Engineering*/methods , Mutation*, Humans ; Protein Folding ; Animals ; Mutagenesis, Site-Directed

Deciphering the significance of p53 mutant proteins.

Συγγραφείς: Butera A; Chair of Systems Toxicology, University of Konstanz, Konstanz, Germany., Amelio I; Chair of Systems Toxicology, University of Konstanz, Konstanz, Germany. Electronic address: ivano.amelio@uni-konstanz.de.

Πηγή: Trends in cell biology [Trends Cell Biol] 2025 Mar; Vol. 35 (3), pp. 258-268. Date of Electronic Publication: 2024 Jul 02.

Τύπος έκδοσης: Journal Article; Review

Στοιχεία περιοδικού: Publisher: Elsevier Science Publishers Country of Publication: England NLM ID: 9200566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3088 (Electronic) Linking ISSN: 09628924 NLM ISO Abbreviation: Trends Cell Biol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Tumor Suppressor Protein p53*/genetics , Tumor Suppressor Protein p53*/metabolism , Mutation*/genetics , Neoplasms*/genetics , Neoplasms*/metabolism , Neoplasms*/pathology , Mutant Proteins*/genetics , Mutant Proteins*/metabolism, Humans ; Animals

The Ile35 Residue of the ALS-Associated Mutant SOD1 Plays a Crucial Role in the Intracellular Aggregation of the Molecule.

Συγγραφείς: Asai Y; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan., Yano K; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan., Higashino T; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan., Yoshihara D; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan.; Labolatory of Biochemistry, School of Pharmacy, Hyogo Medical University, Kobe, Hyogo, 650-8530, Japan., Sakiyama H; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan.; Faculty of Nutrition, Department of Food and Nutrition, Senri Kinran University, Suita, Osaka, 565-0873, Japan., Eguchi H; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan., Fukushima K; Department of Chemistry, School of Medicine, Hyogo Medical University, Nishinomiya, Hyogo, 663-8501, Japan., Suzuki K; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan., Fujiwara N; Department of Biochemistry, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-Cho, Nishinomiya, Hyogo, 663-8501, Japan. noriko-f@hyo-med.ac.jp.

Πηγή: Molecular neurobiology [Mol Neurobiol] 2025 Feb; Vol. 62 (2), pp. 2023-2038. Date of Electronic Publication: 2024 Jul 26.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/enzymology , Amyotrophic Lateral Sclerosis*/pathology , Mutation*/genetics , Superoxide Dismutase*/genetics , Superoxide Dismutase*/metabolism , Superoxide Dismutase*/chemistry , Intracellular Space*/metabolism , Mutant Proteins*/metabolism , Mutant Proteins*/chemistry , Protein Aggregates* , Protein Aggregation, Pathological*, Green Fluorescent Proteins/metabolism ; Superoxide Dismutase-1 ; Humans ; Animals

Reversible suppression of autophagy in a mouse model reveals neuronal resilience.

Συγγραφείς: Eguchi T; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Abe M; Department of Cellular Neurobiology, Brain Research Institute, Niigata University, Niigata, Japan.; Department of Animal Model Development, Brain Research Institute, Niigata University, Niigata, Japan., Tomita T; Division of Protein Metabolism, Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Morishita H; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Saeki Y; Division of Protein Metabolism, Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Sakimura K; Department of Cellular Neurobiology, Brain Research Institute, Niigata University, Niigata, Japan., Tanaka KF; Division of Brain Sciences, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo, Japan., Mizushima N; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Tokyo, Japan.; International Research Center for Neurointelligence (WPI-IRCN), The University of Tokyo, Institutes for Advanced Study (UTIAS), The University of Tokyo, Tokyo, Japan.

Πηγή: Science (New York, N.Y.) [Science] 2026 Jun 25; Vol. 392 (6805), pp. 1363-1368. Date of Electronic Publication: 2026 Jun 25.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Autophagy*/genetics , Autophagy*/drug effects , Neurons*/drug effects , Neurons*/pathology , Neurodegenerative Diseases*/pathology, Axons/pathology ; Animals ; Mice ; Disease Models, Animal ; Proteome ; Transcriptome ; Male ; Female ; Mice, Mutant Strains

Molecular features of a Huntington's disease knock-in minipig.

Συγγραφείς: Kolesnikova A; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic.; Department of Cell Biology, Faculty of Science, Charles University in Prague, Prague 12800, Czech Republic., Sathasivam K; Huntington's Disease Centre and Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Tusi SK; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Massachusetts Hospital and Harvard Medical School, Boston, MA 02114, USA., Landles C; Huntington's Disease Centre and Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Osborne GF; Huntington's Disease Centre and Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Kovalenko M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Gillis T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Kamenná E; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic.; Department of Cell Biology, Faculty of Science, Charles University in Prague, Prague 12800, Czech Republic., Sekáč D; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic.; Department of Cell Biology, Faculty of Science, Charles University in Prague, Prague 12800, Czech Republic., Nguyen DT; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic.; Department of Cell Biology, Faculty of Science, Charles University in Prague, Prague 12800, Czech Republic., Valeková I; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Juhás Š; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Juhásová J; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Levinská B; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Baxa M; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Motlík J; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Klíma J; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic., Howland D; CHDI Management, Inc., the company that manages the scientific activities of CHDI Foundation Inc., Princeton, NJ 08540, USA., Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Massachusetts Hospital and Harvard Medical School, Boston, MA 02114, USA., Bates GP; Huntington's Disease Centre and Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Ellederova Z; Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov 27721, Czech Republic.

Πηγή: Disease models & mechanisms [Dis Model Mech] 2026 May 01; Vol. 19 (5). Date of Electronic Publication: 2026 May 26.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Huntington Disease*/genetics , Huntington Disease*/pathology , Swine, Miniature*/genetics , Gene Knock-In Techniques*, Huntingtin Protein/genetics ; RNA, Messenger/metabolism ; RNA, Messenger/genetics ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Brain/metabolism ; Brain/pathology ; Protein Isoforms/metabolism ; Protein Isoforms/genetics ; Mutant Proteins/metabolism ; Animals ; Swine ; Organ Specificity ; Humans

Escherichia coli Orf135 (NudG) mutant protein specific for oxidized dATP.

Συγγραφείς: Kamiya H; Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

Πηγή: Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2025; Vol. 44 (11), pp. 886-893. Date of Electronic Publication: 2024 Oct 11.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 100892832 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2335 (Electronic) Linking ISSN: 15257770 NLM ISO Abbreviation: Nucleosides Nucleotides Nucleic Acids Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Escherichia coli*/genetics , Escherichia coli*/enzymology , Escherichia coli*/metabolism , Pyrophosphatases*/genetics , Pyrophosphatases*/metabolism , Pyrophosphatases*/chemistry , Escherichia coli Proteins*/metabolism , Escherichia coli Proteins*/genetics , Escherichia coli Proteins*/chemistry , Deoxyadenine Nucleotides*/metabolism , Deoxyadenine Nucleotides*/chemistry , Mutant Proteins*/metabolism , Mutant Proteins*/genetics , Mutant Proteins*/chemistry, Oxidation-Reduction ; Substrate Specificity ; Mutation ; Nudix Hydrolases

Transglycosylation Capabilities of Wild-Type α-l-Fucosidase iso1 from Paenibacillus thiaminolyticus and Its Engineered Mutants: Preparation of Fucosylated Oligosaccharides.

Συγγραφείς: Vodičková P; Department of Biochemistry and Microbiology, University of Chemistry and Technology, Prague, Czech Republic., Klimešová L; Department of Biochemistry and Microbiology, University of Chemistry and Technology, Prague, Czech Republic.; Institute of Microbiology of the Czech Academy of Sciences, Prague, Czech Republic., Nekvasilová P; Institute of Microbiology of the Czech Academy of Sciences, Prague, Czech Republic.; Department of Genetics and Microbiology, Faculty of Science, Charles University, Prague, Czech Republic., Petrásková L; Institute of Microbiology of the Czech Academy of Sciences, Prague, Czech Republic., Pelantová H; Institute of Microbiology of the Czech Academy of Sciences, Prague, Czech Republic., Kovaľová T; Department of Biochemistry and Microbiology, University of Chemistry and Technology, Prague, Czech Republic., Lipovová P; Department of Biochemistry and Microbiology, University of Chemistry and Technology, Prague, Czech Republic., Bojarová P; Institute of Microbiology of the Czech Academy of Sciences, Prague, Czech Republic., Benešová E; Department of Biochemistry and Microbiology, University of Chemistry and Technology, Prague, Czech Republic.

Πηγή: Microbial biotechnology [Microb Biotechnol] 2026 Apr; Vol. 19 (4), pp. e70354.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101316335 Publication Model: Print Cited Medium: Internet ISSN: 1751-7915 (Electronic) Linking ISSN: 17517915 NLM ISO Abbreviation: Microb Biotechnol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Paenibacillus*/enzymology , Paenibacillus*/genetics , alpha-L-Fucosidase*/genetics , alpha-L-Fucosidase*/metabolism , alpha-L-Fucosidase*/chemistry , Fucose*/metabolism , Oligosaccharides*/metabolism , Oligosaccharides*/chemistry, Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Mutant Proteins/metabolism ; Mutant Proteins/genetics ; Mutagenesis, Site-Directed ; Glycosylation

Impaired maturation and differentiation of oligodendrocytes in the vacuole formation myelin mutant rat.

Συγγραφείς: Tanaka M; Osaka Metropolitan University, Izumisano, Japan.; Kyoto University, Kyoto, Japan., Morita C; Osaka Metropolitan University, Izumisano, Japan., Izawa T; Osaka Metropolitan University, Izumisano, Japan., Yamate J; Osaka Metropolitan University, Izumisano, Japan., Franklin RJM; University of Cambridge, Addenbrookes Hospital, Cambridge, UK., Kuramoto T; Kyoto University, Kyoto, Japan.; Tokyo University of Agriculture, Atsugi, Japan., Serikawa T; Kyoto University, Kyoto, Japan., Kuwamura M; Osaka Metropolitan University, Izumisano, Japan.

Πηγή: Veterinary pathology [Vet Pathol] 2026 Mar; Vol. 63 (2), pp. 315-324. Date of Electronic Publication: 2025 Oct 09.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Sage Country of Publication: United States NLM ID: 0312020 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1544-2217 (Electronic) Linking ISSN: 03009858 NLM ISO Abbreviation: Vet Pathol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Oligodendroglia*/pathology , Oligodendroglia*/metabolism , Oligodendroglia*/cytology , Myelin Sheath*/pathology , Myelin Sheath*/genetics , Myelin Sheath*/metabolism , Vacuoles*/pathology , Cell Differentiation*, Myelin Basic Protein/genetics ; Myelin Basic Protein/metabolism ; Spinal Cord/pathology ; Spinal Cord/metabolism ; Animals ; Rats ; Rats, Mutant Strains ; Male