Codon-optimized production of Cu/Zn superoxide dismutase (SOD1) in Komagataella phaffii: Functional characterization and high-yield fermentation strategy.

Συγγραφείς: Al-Adeeb A; Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, 214000, Jiangsu, China., Aqeel SM; Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, 214000, Jiangsu, China., Gu Q; Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, 214000, Jiangsu, China., Ren Q; Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, 214000, Jiangsu, China., Liu WL; School of Chemistry and Chemical Engineering, Guangxi University, Nanning, 530004, Guangxi, China., Mahdi AA; School of Food and Biological Engineering, Jiangsu University, Zhenjiang, China., Yu X; Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, 214000, Jiangsu, China. Electronic address: xbyu@jiangnan.edu.cn.

Πηγή: International journal of biological macromolecules [Int J Biol Macromol] 2025 Dec; Vol. 332 (Pt 1), pp. 148583. Date of Electronic Publication: 2025 Oct 27.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0003 (Electronic) Linking ISSN: 01418130 NLM ISO Abbreviation: Int J Biol Macromol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/chemistry , Superoxide Dismutase-1*/biosynthesis , Superoxide Dismutase-1*/metabolism , Saccharomycetales*/genetics , Saccharomycetales*/metabolism , Saccharomycetales*/enzymology , Fermentation* , Codon*/genetics, Hydrogen-Ion Concentration ; Enzyme Stability ; Recombinant Proteins/genetics ; Recombinant Proteins/chemistry ; Recombinant Proteins/biosynthesis ; Cloning, Molecular ; Molecular Docking Simulation ; Temperature

SCR Organism: Komagataella phaffii

Tracking copper-zinc and manganese superoxide dismutase in Avicennia marina reveals time-dependent expression of SOD isoforms in response to salt and lead stress.

Συγγραφείς: Mahdavian M; Department of Biotechnology, College of Agriculture, Isfahan University of Technology, Isfahan, 84156-83111, Iran., Shahpiri A; Department of Biotechnology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. a.shahpiri@bio.ui.ac.ir., Shamsara M; National Institute of Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran., Zarei M; Department of Biotechnology, College of Agriculture, Isfahan University of Technology, Isfahan, 84156-83111, Iran.

Πηγή: Scientific reports [Sci Rep] 2025 Nov 28; Vol. 15 (1), pp. 42608. Date of Electronic Publication: 2025 Nov 28.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase*/metabolism , Superoxide Dismutase*/genetics , Avicennia*/enzymology , Avicennia*/genetics , Avicennia*/drug effects , Lead*/toxicity , Stress, Physiological* , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism, Gene Expression Regulation, Plant/drug effects ; Animals ; Seedlings ; Plant Proteins/metabolism ; Plant Proteins/genetics ; Isoenzymes/metabolism ; Isoenzymes/genetics

Uncovering the molecular details of the 14-3-3 recruitment by mutant Sod1 species.

Συγγραφείς: Di Rienzo L; Center for Life Nano & Neuro Science, Istituto Italiano di Tecnologia, Rome, Italy. lorenzo.dirienzo@unicamillus.org.; International Medical University UniCamillus, Rome, Italy. lorenzo.dirienzo@unicamillus.org., Genovese I; Center for Life Nano & Neuro Science, Istituto Italiano di Tecnologia, Rome, Italy.; International Medical University UniCamillus, Rome, Italy., Galluzzi G; Center for Life Nano & Neuro Science, Istituto Italiano di Tecnologia, Rome, Italy.; School of Advanced Studies, University of Camerino, Camerino, Italy., Ruocco G; Center for Life Nano & Neuro Science, Istituto Italiano di Tecnologia, Rome, Italy.; Department of Physics, Sapienza University of Rome, Rome, Italy., Fornetti E; Center for Life Nano & Neuro Science, Istituto Italiano di Tecnologia, Rome, Italy.; International Medical University UniCamillus, Rome, Italy.

Πηγή: Scientific reports [Sci Rep] 2025 Nov 20; Vol. 15 (1), pp. 41091. Date of Electronic Publication: 2025 Nov 20.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/chemistry , 14-3-3 Proteins*/metabolism , 14-3-3 Proteins*/chemistry , Mutation* , Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/metabolism , Amyotrophic Lateral Sclerosis*/pathology, Humans ; Molecular Dynamics Simulation ; Molecular Docking Simulation ; Protein Binding

Development of a targeted BioPROTAC degrader selective for misfolded SOD1.

Συγγραφείς: Chisholm CG; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia. christen@uow.edu.au., Bartlett R; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Brown ML; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Proctor EJ; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Farrawell NE; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Gorman J; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Delerue F; Dementia Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Department of Genetics, The University of Texas MD Anderson Cancer Centre, Houston, TX, USA., Ittner LM; Dementia Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Celosia Therapeutics, Sydney, NSW, Australia., Vine-Perrow KL; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Ecroyd H; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Cashman NR; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC, Canada.; ProMIS Neurosciences, Toronto, ON, Canada., Saunders DN; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., McAlary L; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia., Lum JS; Molecular Horizons and School of Medical, Indigenous and Health Sciences, University of Wollongong, Wollongong, NSW, Australia. jlum@uow.edu.au., Yerbury JJ; Molecular Horizons and School of Science, University of Wollongong, Wollongong, NSW, Australia.

Πηγή: Nature communications [Nat Commun] 2025 Nov 10; Vol. 16 (1), pp. 9713. Date of Electronic Publication: 2025 Nov 10.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/chemistry , Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/metabolism , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/drug therapy, Animals ; Mice, Transgenic ; Mice ; Protein Folding ; Humans ; Disease Models, Animal ; Proteolysis ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Ubiquitin-Protein Ligases/metabolism ; Ubiquitin-Protein Ligases/genetics ; CRISPR-Cas Systems ; Disease Progression ; HEK293 Cells

Arabidopsis thaliana iron superoxide dismutase FeSOD1 protects ARGONAUTE 1 in a copper-dependent manner.

Συγγραφείς: Tomassi AH; Instituto de Biología Molecular y Celular de Plantas (Consejo Superior de Investigaciones Científicas-Universitat Politècnica de València), Valencia, Spain., Perea-García A; Departament de Bioquímica I Biología Molecular, Universitat de València, Burjassot, Valencia, Spain., Rodrigo G; Institute for Integrative Systems Biology (I2SysBio), CSIC-University of Valencia, Paterna 46980, Spain., Sánchez-Vicente J; Instituto de Biología Molecular y Celular de Plantas (Consejo Superior de Investigaciones Científicas-Universitat Politècnica de València), Valencia, Spain., Cisneros AE; Instituto de Biología Molecular y Celular de Plantas (Consejo Superior de Investigaciones Científicas-Universitat Politècnica de València), Valencia, Spain., Olmos M; Departament de Bioquímica I Biología Molecular, Universitat de València, Burjassot, Valencia, Spain., Andrés-Bordería A; Departament de Bioquímica I Biología Molecular, Universitat de València, Burjassot, Valencia, Spain., López-Dolz L; Instituto de Biología Molecular y Celular de Plantas (Consejo Superior de Investigaciones Científicas-Universitat Politècnica de València), Valencia, Spain., Daròs JA; Instituto de Biología Molecular y Celular de Plantas (Consejo Superior de Investigaciones Científicas-Universitat Politècnica de València), Valencia, Spain., Peñarrubia L; Departament de Bioquímica I Biología Molecular, Universitat de València, Burjassot, Valencia, Spain., Carbonell A; Instituto de Biología Molecular y Celular de Plantas (Consejo Superior de Investigaciones Científicas-Universitat Politècnica de València), Valencia, Spain.

Πηγή: Journal of experimental botany [J Exp Bot] 2025 Nov 05; Vol. 76 (18), pp. 5465-5480.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Oxford University Press Country of Publication: England NLM ID: 9882906 Publication Model: Print Cited Medium: Internet ISSN: 1460-2431 (Electronic) Linking ISSN: 00220957 NLM ISO Abbreviation: J Exp Bot Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Arabidopsis*/genetics , Arabidopsis*/metabolism , Arabidopsis*/enzymology , Copper*/metabolism , Argonaute Proteins*/metabolism , Argonaute Proteins*/genetics , Arabidopsis Proteins*/metabolism , Arabidopsis Proteins*/genetics , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/genetics, MicroRNAs/metabolism ; Gene Expression Regulation, Plant

Understanding Structural Destabilization and Amyloid Aggregation in ALS-Related Neurodegenerative Disorder: An In Silico and Experimental Analysis of SOD1 Variants.

Συγγραφείς: Soleimanifard N; Department of Molecular and Cell Biology, Faculty of Basic Science, University of Mazandaran, Babolsar 47416-95447, Iran., Seyedalipour B; Department of Molecular and Cell Biology, Faculty of Basic Science, University of Mazandaran, Babolsar 47416-95447, Iran., Baziyar P; Department of Molecular and Cell Biology, Faculty of Basic Science, University of Mazandaran, Babolsar 47416-95447, Iran., Hosseinkhani S; Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran 14115-154, Iran.

Πηγή: ACS chemical neuroscience [ACS Chem Neurosci] 2025 Nov 05; Vol. 16 (21), pp. 4203-4223. Date of Electronic Publication: 2025 Oct 09.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101525337 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1948-7193 (Electronic) Linking ISSN: 19487193 NLM ISO Abbreviation: ACS Chem Neurosci Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/metabolism , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/chemistry , Amyloid*/metabolism , Protein Aggregation, Pathological*/genetics , Protein Aggregation, Pathological*/metabolism, Humans ; Molecular Dynamics Simulation ; Mutation/genetics ; Protein Folding ; Protein Structure, Secondary ; Protein Aggregates

Structure and Molecular Basis for Inhibiting Human SOD1 Aggregation by a Promising Decan Derivative Modulator: A Potential Therapeutic Strategy for Treating Amyotrophic Lateral Sclerosis (ALS).

Συγγραφείς: Aouti S; Department of Biophysics, National Institute of Mental Health and Neurosciences, Hosur Main Road, Bengaluru 560029, India., Kommu P; Department of Biophysics, National Institute of Mental Health and Neurosciences, Hosur Main Road, Bengaluru 560029, India., Hegde RP; GdR IISc-ICTP, Elettra - Sincrotrone Trieste SCpA, SS 14 km 163,5 in AREA Science Park, Basovizza, 34149 Trieste, Italy., Ali A; Medicinal & Process Chemistry Division, CSIR-Central Drug Research Institute, Jankipuram Extension, Sitapur Road, Lucknow 226031, India., Mm Srinivas B; Department of Clinical Psychopharmacology and Neurotoxicology, National Institute of Mental Health and Neurosciences, Hosur Main Road, Bengaluru 560029, India., Padavattan S; Department of Biophysics, National Institute of Mental Health and Neurosciences, Hosur Main Road, Bengaluru 560029, India., Padmanabhan B; Department of Biophysics, National Institute of Mental Health and Neurosciences, Hosur Main Road, Bengaluru 560029, India.

Πηγή: ACS chemical neuroscience [ACS Chem Neurosci] 2025 Nov 05; Vol. 16 (21), pp. 4180-4190. Date of Electronic Publication: 2025 Oct 23.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101525337 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1948-7193 (Electronic) Linking ISSN: 19487193 NLM ISO Abbreviation: ACS Chem Neurosci Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/chemistry , Amyotrophic Lateral Sclerosis*/drug therapy , Amyotrophic Lateral Sclerosis*/metabolism , Superoxide Dismutase*/metabolism , Superoxide Dismutase*/chemistry, Humans ; Crystallography, X-Ray ; Models, Molecular

Oxidative denaturation of Cu/Zn-superoxide dismutase associated with neurodegenerative diseases.

Συγγραφείς: Yoshida M; Department of Chemistry, Keio University, Yokohama, Japan., Muraki N; Department of Chemistry, Keio University, Yokohama, Japan., Tajiri M; Graduate School of Medical Life Science, Yokohama City University, Yokohama, Japan., Hengphasatporn K; Center for Computational Sciences, University of Tsukuba, Tsukuba, Japan., Sue K; Department of Chemistry, Keio University, Yokohama, Japan., Kubo T; Graduate School of Biostudies, Kyoto University, Kyoto, Japan., Akashi S; Graduate School of Medical Life Science, Yokohama City University, Yokohama, Japan., Shigeta Y; Center for Computational Sciences, University of Tsukuba, Tsukuba, Japan., Kambe T; Graduate School of Biostudies, Kyoto University, Kyoto, Japan., Furukawa Y; Department of Chemistry, Keio University, Yokohama, Japan.

Πηγή: Protein science : a publication of the Protein Society [Protein Sci] 2025 Nov; Vol. 34 (11), pp. e70339.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9211750 Publication Model: Print Cited Medium: Internet ISSN: 1469-896X (Electronic) Linking ISSN: 09618368 NLM ISO Abbreviation: Protein Sci Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/chemistry , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/genetics , Neurodegenerative Diseases*/enzymology, Humans ; Oxidation-Reduction ; Molecular Dynamics Simulation ; Protein Denaturation ; Zinc/metabolism ; Zinc/chemistry ; Cysteine/chemistry ; Cysteine/metabolism ; Protein Folding ; Hydrogen Peroxide/chemistry ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/enzymology

Allosteric pathway connects Zn(II) loss from SOD1 to known pathogenic mechanisms.

Συγγραφείς: Araya-Osorio R; Departamento de Química, Facultad de Ciencias, Universidad de Tarapacá, Arica, Chile., Dominguez M; Department of Environmental Sciences, Faculty of Chemistry and Biology, University of Santiago (USACH), Santiago, Chile., Thallmair S; Frankfurt Institute for Advanced Studies, 60438 Frankfurt am Main, Germany., Marrink SJ; Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, The Netherlands., Souza PCT; Laboratoire de Biologie et Modélisation de la Cellule, CNRS, UMR 5239, Inserm, U1293, Université Claude Bernard Lyon 1, Ecole Normale Supérieure de Lyon, 46 allée d'Italie, 69364, Lyon, France; Centre Blaise Pascal de Simulation et de Modélisation Numérique, Ecole Normale Supérieure de Lyon, 47 allée d'Italie, 69364, Lyon, France. Electronic address: paulo.telles_de_souza@ens-lyon.fr., Mera-Adasme R; Departamento de Química, Facultad de Ciencias, Universidad de Tarapacá, Arica, Chile. Electronic address: rmeraa@academicos.uta.cl.

Πηγή: International journal of biological macromolecules [Int J Biol Macromol] 2025 Nov; Vol. 331 (Pt 1), pp. 148349. Date of Electronic Publication: 2025 Oct 16.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0003 (Electronic) Linking ISSN: 01418130 NLM ISO Abbreviation: Int J Biol Macromol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/chemistry , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/genetics , Zinc*/metabolism , Zinc*/chemistry, Allosteric Regulation ; Humans ; Molecular Dynamics Simulation ; Protein Folding ; Solvents/chemistry ; Amyotrophic Lateral Sclerosis/genetics

The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence.

Συγγραφείς: Marlow TR; Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, United Kingdom; NIHR Sheffield Biomedical Research Centre, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield S10 2JF, United Kingdom., Bowden KM; Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, United Kingdom., Collins MO; School of Biosciences, University of Sheffield, United Kingdom; Cross Faculty Neuroscience Institute, University of Sheffield, United Kingdom., Shaw PJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, United Kingdom; NIHR Sheffield Biomedical Research Centre, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield S10 2JF, United Kingdom; Cross Faculty Neuroscience Institute, University of Sheffield, United Kingdom. Electronic address: pamela.shaw@sheffield.ac.uk.

Πηγή: Neurobiology of disease [Neurobiol Dis] 2025 Nov; Vol. 216, pp. 107124. Date of Electronic Publication: 2025 Sep 24.

Τύπος έκδοσης: Journal Article; Review

Στοιχεία περιοδικού: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/metabolism , Amyotrophic Lateral Sclerosis*/pathology , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/genetics, Humans ; Protein Folding ; Animals ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Mutation

TSPO Expression and [18F]DPA-714 PET/CT Imaging as Pathogenetic and Diagnostic Biomarkers in Symptomatic Stages of Skeletal Muscle Fiber Degeneration in SOD1-G93A ALS Mice.

Συγγραφείς: Anzilotti S; Department of Human Sciences and Quality of Life Promotion, San Raffaele University, Rome, Italy., De Iesu N; IRCCS SYNLAB SDN, Naples, Italy., Gargiulo S; Siena, Italy., Di Muraglia N; Division of Pharmacology, Department of Neuroscience, School of Medicine, University of Naples 'Federico II', Naples, Italy., Cicatiello AG; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy., Dentice M; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy., Panico M; Institute of Biostructures and Bioimaging, National Research Council, Naples, Italy., Albanese S; Institute of Biostructures and Bioimaging, National Research Council, Naples, Italy., Annunziato L; IRCCS SYNLAB SDN, Naples, Italy., Salvatore M; IRCCS SYNLAB SDN, Naples, Italy., Pignataro G; Division of Pharmacology, Department of Neuroscience, School of Medicine, University of Naples 'Federico II', Naples, Italy., Pappatà S; IRCCS SYNLAB SDN, Naples, Italy.

Πηγή: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2025 Oct 31; Vol. 39 (20), pp. e71129.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/metabolism , Amyotrophic Lateral Sclerosis*/diagnostic imaging , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/genetics , Positron Emission Tomography Computed Tomography*/methods , Receptors, GABA*/metabolism , Receptors, GABA*/genetics , Pyrazoles* , Pyrimidines* , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism , Muscle Fibers, Skeletal*/metabolism , Muscle Fibers, Skeletal*/pathology, Animals ; Mice ; Mice, Transgenic ; Biomarkers/metabolism ; Fluorine Radioisotopes ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Male ; Humans

SOD1 is delivered to lysosomes via autophagy to maintain lysosomal function and integrity.

Συγγραφείς: Zheng Y; Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, School of Life Sciences, Southern University of Science and Technology , Shenzhen, China., Li M; Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, School of Life Sciences, Southern University of Science and Technology , Shenzhen, China., Chen X; School of Medicine, Southern University of Science and Technology , Shenzhen, China.; Key University Laboratory of Metabolism and Health of Guangdong, Southern University of Science and Technology , Shenzhen, China., Zheng Z; Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, School of Life Sciences, Southern University of Science and Technology , Shenzhen, China., Chen Z; Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, School of Life Sciences, Southern University of Science and Technology , Shenzhen, China., Tian R; School of Medicine, Southern University of Science and Technology , Shenzhen, China.; Key University Laboratory of Metabolism and Health of Guangdong, Southern University of Science and Technology , Shenzhen, China., Zhao YG; Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, School of Life Sciences, Southern University of Science and Technology , Shenzhen, China.

Πηγή: The Journal of cell biology [J Cell Biol] 2025 Oct 06; Vol. 224 (10). Date of Electronic Publication: 2025 Aug 07.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Lysosomes*/metabolism , Lysosomes*/enzymology , Autophagy* , Superoxide Dismutase-1*/metabolism , Superoxide Dismutase-1*/genetics, Humans ; Reactive Oxygen Species/metabolism ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Amyotrophic Lateral Sclerosis/enzymology ; Animals ; HEK293 Cells ; Autophagy-Related Protein 8 Family/metabolism ; Autophagy-Related Protein 8 Family/genetics ; Mice

Landscapes of missense variant impact for human superoxide dismutase 1.

Συγγραφείς: Axakova A; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Ding M; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Cote AG; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Subramaniam R; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Senguttuvan V; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA., Zhang H; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA., Weile J; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Douville SV; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Faculty of Health Science, McMaster University, Hamilton, ON L8S 4L8, Canada., Gebbia M; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, UK., Wahl A; Labcorp Genetics (Formerly Invitae Corp.), San Francisco, CA 94103, USA., Reuter J; Labcorp Genetics (Formerly Invitae Corp.), San Francisco, CA 94103, USA., Hurt J; Biogen Inc., Cambridge, MA 02142, USA., Mitchell AA; Biogen Inc., Cambridge, MA 02142, USA., Fradette S; Biogen Inc., Cambridge, MA 02142, USA., Andersen PM; Umeå University, 901 87 Umeå, Sweden., van Loggerenberg W; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA. Electronic address: wav14@pitt.edu., Roth FP; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3K3, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA. Electronic address: fritz@pitt.edu.

Πηγή: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2295-2315. Date of Electronic Publication: 2025 Sep 15.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/chemistry , Superoxide Dismutase-1*/metabolism , Mutation, Missense*/genetics , Amyotrophic Lateral Sclerosis*/genetics, Humans ; Amino Acid Substitution

A computational model of tsDCS effects in SOD1 mice: from MRI-based design to validation.

Συγγραφείς: de Oliveira Pires L; Instituto de Biofísica e Engenharia Biomédica, Faculdade de Ciências da Universidade de Lisboa, Campo Grande, Lisbon, 1749-016, Portugal. Electronic address: ldpires@ciencias.ulisboa.pt., Wasicki B; Poznań University of Physical Education, Department of Neurobiology, Poland., Abaei A; Core Facility Small Animal Imaging, Ulm University, Ulm, 89081, Germany., Scekic-Zahirovic J; German Center for Neurodegenerative Diseases (DZNE)-Ulm, Ulm, 89081, Germany., Roselli F; German Center for Neurodegenerative Diseases (DZNE)-Ulm, Ulm, 89081, Germany; Dept. of Neurology, Ulm University, Ulm, 89081, Germany., Fernandes S; Instituto de Biofísica e Engenharia Biomédica, Faculdade de Ciências da Universidade de Lisboa, Campo Grande, Lisbon, 1749-016, Portugal., Bączyk M; Poznań University of Physical Education, Department of Neurobiology, Poland.

Πηγή: Computers in biology and medicine [Comput Biol Med] 2025 Oct; Vol. 197 (Pt B), pp. 111082. Date of Electronic Publication: 2025 Sep 24.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: United States NLM ID: 1250250 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0534 (Electronic) Linking ISSN: 00104825 NLM ISO Abbreviation: Comput Biol Med Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Magnetic Resonance Imaging* , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism , Models, Neurological* , Spinal Cord*/diagnostic imaging , Spinal Cord*/physiology, Animals ; Mice ; Computer Simulation ; Mice, Inbred C57BL ; Mice, Transgenic ; Membrane Potentials/physiology

Distinct amyloid fibril structures formed by ALS-causing SOD1 mutants G93A and D101N.

Συγγραφείς: Zhang MY; Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, TaiKang Center for Life and Medical Sciences, Wuhan University, 430072, Wuhan, China., Ma Y; Interdisciplinary Research Center on Biology and Chemistry, State Key Laboratory of Chemical Biology, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, 201210, Shanghai, China.; University of Chinese Academy of Sciences, 100049, Beijing, China., Wang LQ; Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, TaiKang Center for Life and Medical Sciences, Wuhan University, 430072, Wuhan, China. wangliqiang@whu.edu.cn., Xia W; Interdisciplinary Research Center on Biology and Chemistry, State Key Laboratory of Chemical Biology, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, 201210, Shanghai, China.; University of Chinese Academy of Sciences, 100049, Beijing, China., Li XN; The Cryo-EM Center, Core Facility of Wuhan University, Wuhan University, 430072, Wuhan, China., Zhao K; Interdisciplinary Research Center on Biology and Chemistry, State Key Laboratory of Chemical Biology, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, 201210, Shanghai, China.; University of Chinese Academy of Sciences, 100049, Beijing, China., Chen J; Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, TaiKang Center for Life and Medical Sciences, Wuhan University, 430072, Wuhan, China., Li D; Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Bio-X Institutes, Shanghai Jiao Tong University, 200030, Shanghai, China.; Zhangjiang Institute for Advanced Study, Shanghai Jiao Tong University, 200240, Shanghai, China., Zou L; Department of Neurology, Shenzhen People's Hospital (the First Affiliated Hospital of Southern University of Science and Technology), the Second Clinical Medical College, Jinan University, 518020, Shenzhen, China., Wang Z; School of Civil Engineering, Wuhan University, 430072, Wuhan, China., Liu C; Interdisciplinary Research Center on Biology and Chemistry, State Key Laboratory of Chemical Biology, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, 201210, Shanghai, China. liulab@sioc.ac.cn.; Shanghai Academy of Natural Sciences (SANS), Fudan University, Shanghai, China. liulab@sioc.ac.cn., Liang Y; Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, TaiKang Center for Life and Medical Sciences, Wuhan University, 430072, Wuhan, China. liangyi@whu.edu.cn.

Πηγή: EMBO reports [EMBO Rep] 2025 Oct; Vol. 26 (19), pp. 4820-4846. Date of Electronic Publication: 2025 Aug 26.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/chemistry , Superoxide Dismutase-1*/metabolism , Amyloid*/chemistry , Amyloid*/ultrastructure , Amyloid*/metabolism , Amyloid*/genetics , Mutation*, Animals ; Mice ; Humans ; Cryoelectron Microscopy ; Mice, Transgenic ; Models, Molecular ; Superoxide Dismutase

PKM2 alleviates mitochondrial oxidative stress and neuronal apoptosis through metabolic and non-metabolic pathways to protect SOD1 ^G93A mice.

Συγγραφείς: Zhang Z; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China; Department of Rare Disease, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China; Key Laboratory of Major Brain Disease and Aging Research (Ministry of Education), Chongqing Medical University, Chongqing, 400016, China., Guo X; Department of Neurology, The Second Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, 563000, China., Liu Y; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China., Ke P; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China., Meng Y; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China., Gu J; Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, Sichuan, 646000, China., Hu L; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China., Yuan Z; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China., Duan R; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China., Luo J; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China; Department of Rare Disease, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China; Key Laboratory of Major Brain Disease and Aging Research (Ministry of Education), Chongqing Medical University, Chongqing, 400016, China. Electronic address: jgire@163.com., Xiao F; Department of Neurology, Chongqing Key Laboratory of Major Neurological and Mental Disorders, Neurology Key Laboratory of Chongqing Education Commission of China, Chongqing Key Laboratory of Neurology, The First Affiliated Hospital of Chongqing Medical University, No.1 Youyi Road, Yuzhong District, Chongqing, 400016, China; Department of Rare Disease, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China; Key Laboratory of Major Brain Disease and Aging Research (Ministry of Education), Chongqing Medical University, Chongqing, 400016, China. Electronic address: feixiao81@126.com.

Πηγή: Free radical biology & medicine [Free Radic Biol Med] 2025 Oct; Vol. 238, pp. 1-16. Date of Electronic Publication: 2025 Jun 15.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8709159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4596 (Electronic) Linking ISSN: 08915849 NLM ISO Abbreviation: Free Radic Biol Med Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/metabolism , Amyotrophic Lateral Sclerosis*/drug therapy , Mitochondria*/metabolism , Mitochondria*/pathology , Mitochondria*/drug effects , Pyruvate Kinase*/genetics , Pyruvate Kinase*/metabolism , Pyruvate Kinase*/antagonists & inhibitors , Superoxide Dismutase-1*/genetics , Superoxide Dismutase-1*/metabolism, Animals ; Oxidative Stress/drug effects ; Mice ; Apoptosis/drug effects ; NF-E2-Related Factor 2/genetics ; NF-E2-Related Factor 2/metabolism ; Reactive Oxygen Species/metabolism ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Motor Neurons/drug effects ; Humans ; Disease Models, Animal ; Mice, Transgenic

An Autopsy Case of ALS Which Clinically Presented Sporadic Adult-Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser (L126S) Variant in SOD1 and SMN2 Deletion.

Συγγραφείς: Inoue K; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Fujimura H; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Ueda K; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Nishio H; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan., Naruse H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Izumi Y; Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Πηγή: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2025 Dec; Vol. 45 (6), pp. e70032.

Τύπος έκδοσης: Case Reports; Journal Article

Στοιχεία περιοδικού: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 9606526 Publication Model: Print Cited Medium: Internet ISSN: 1440-1789 (Electronic) Linking ISSN: 09196544 NLM ISO Abbreviation: Neuropathology Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Superoxide Dismutase-1*/genetics , Survival of Motor Neuron 2 Protein*/genetics, Humans ; Male ; Adult ; Autopsy ; Middle Aged ; Motor Neurons/pathology

Familial ALS With p. L127S (L126S) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review.

Συγγραφείς: Inoue K; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Toyooka K; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Fujimura H; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Ueda K; Department of Neurology and Pathology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan., Kaido M; Department of Neurology, Sakai City Medical Center, Sakai, Japan., Yamamoto Y; Department of Neurology, University of Osaka Graduate School of Medicine, Suita, Japan., Izumi Y; Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Πηγή: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2025 Dec; Vol. 45 (6), pp. e70028.

Τύπος έκδοσης: Journal Article; Case Reports; Review

Στοιχεία περιοδικού: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 9606526 Publication Model: Print Cited Medium: Internet ISSN: 1440-1789 (Electronic) Linking ISSN: 09196544 NLM ISO Abbreviation: Neuropathology Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Superoxide Dismutase-1*/genetics, Humans ; Middle Aged ; Female ; Male ; Adult ; Motor Neurons/pathology ; Inclusion Bodies/pathology

Loss of C9orf72 impacts the peripheral neuromuscular system via immune dysregulation and accelerates the progression of amyotrophic lateral sclerosis in SOD-1 mutant mice.

Συγγραφείς: Sironi F; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Tortarolo M; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Mazzucchi S; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Camporeale L; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Freschi M; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Arcadipane E; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., De Giovanetti G; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Kurosaki M; Department of Biochemistry and Molecular Pharmacology, Laboratory of Molecular Biology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri, 2, Milan, 20156, Italy., Terao M; Department of Biochemistry and Molecular Pharmacology, Laboratory of Molecular Biology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri, 2, Milan, 20156, Italy., Parlanti P; Center for Materials Interfaces, Electron Crystallography, Istituto Italiano di Tecnologia, Viale Rinaldo Piaggio 34, Pontedera (PI), 56025, Italy., Podini P; Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Gentile F; Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Bonetto V; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy., Cappello V; Center for Materials Interfaces, Electron Crystallography, Istituto Italiano di Tecnologia, Viale Rinaldo Piaggio 34, Pontedera (PI), 56025, Italy., Riva N; Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Quattrini A; Institute of Experimental Neurology and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. quattrini.angelo@hsr.it., Bendotti C; Research Center for ALS, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, Milano, 20156, Italy. caterina.bendotti@marionegri.it.

Πηγή: Journal of neuroinflammation [J Neuroinflammation] 2025 Nov 15; Vol. 22 (1), pp. 272. Date of Electronic Publication: 2025 Nov 15.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: BioMed Central Country of Publication: England NLM ID: 101222974 Publication Model: Electronic Cited Medium: Internet ISSN: 1742-2094 (Electronic) Linking ISSN: 17422094 NLM ISO Abbreviation: J Neuroinflammation Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/immunology , Amyotrophic Lateral Sclerosis*/metabolism , C9orf72 Protein*/genetics , C9orf72 Protein*/deficiency , C9orf72 Protein*/metabolism , Superoxide Dismutase-1*/genetics , Neuromuscular Junction*/pathology , Neuromuscular Junction*/metabolism , Neuromuscular Junction*/immunology, Animals ; Mice ; Disease Progression ; Mice, Transgenic ; Disease Models, Animal ; Mutation/genetics ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Mice, Inbred C57BL

Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With SOD1-Linked Amyotrophic Lateral Sclerosis.

Συγγραφείς: Vacchiano V; UOC Clinica Neurologica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Ragucci C; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., Rizzo G; UOC Clinica Neurologica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Di Stasi V; UOC Clinica Neurologica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Pastorelli F; UOC Neurologia, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Rinaldi R; UOC Clinica Neurologica Rete Neurologica Metropolitana, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Provini F; UOC Clinica Neurologica Rete Neurologica Metropolitana, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Postiglione E; Department of Neuroscience, S. Maria Delle Croci Hospital, Ravenna, Italy., Fiorentino A; Programma di Neurogenetica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Carelli V; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.; Programma di Neurogenetica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Liguori R; UOC Clinica Neurologica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.

Πηγή: European journal of neurology [Eur J Neurol] 2025 Nov; Vol. 32 (11), pp. e70434.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/cerebrospinal fluid , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/physiopathology , Amyotrophic Lateral Sclerosis*/diagnosis , Superoxide Dismutase-1*/genetics , Spinal Nerve Roots*/pathology , Spinal Nerve Roots*/diagnostic imaging , Cerebrospinal Fluid Proteins*/cerebrospinal fluid, Humans ; Male ; Middle Aged ; Female ; Magnetic Resonance Imaging ; Aged ; Adult