Bioinformatic Study of Possible Acute Regulation of Acid Secretion in the Stomach

Authors: Yan Hay Grace Lee, Nicole T. Cerf, Nicholas Shalaby, Mónica R. Montes, Ronald J. Clarke

Source: J Membr Biol

Subject Terms: 0301 basic medicine, Kinase, Cell biology, Molecular Mechanisms of Aquaporins in Physiology and Disease, ATPasas, Biochemistry, Article, H(+)-K(+)-Exchanging ATPase, 03 medical and health sciences, Protein kinase A, Biochemistry, Genetics and Molecular Biology, Animals, ATPase, Phosphorylation, Molecular Biology, Biology, Secretion, Ions, 0303 health sciences, ATP Synthase Function and Regulation, regulación enzimática, Stomach, Life Sciences, Biological Transport, Intracellular, 6. Clean water, Chemistry, Enzyme, ATP Synthase, alineamiento de secuencias, Molecular Mechanisms of Ras Signaling Pathways, Tyrosine, Sodium-Potassium-Exchanging ATPase, Proto-oncogene tyrosine-protein kinase Src, kinasas, Vacuolar H+-ATPase

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38436710
http://hdl.handle.net/11336/241480

Estudio computacional de las interacciones moleculares entre el timol y los residuos HIS41 y CYS145 presentes en el sitio activo de la proteasa 3CLpro

Authors: José Acosta, José G. Parra, Peter Iza

Source: Revista Colombiana de Química. :42-48

Subject Terms: 0301 basic medicine, Pharmacology, 0303 health sciences, Pharmacology, Toxicology and Pharmaceutics, ATP Synthase Function and Regulation, Life Sciences, FOS: Humanities, Molecular Docking, 03 medical and health sciences, Humanities, Computational Theory and Mathematics, Pharmacological Effects of Licorice Roots, Biochemistry, Genetics and Molecular Biology, Computer Science, Physical Sciences, Molecular Biology, Art, Computational Methods in Drug Discovery

The Role of pH in Cancer Biology and its Impact on Cellular Repair, Tumor Markers, Tumor Stages, Isoenzymes, and Therapeutics

Authors: Maher Akl, Amr Ahmed

Source: Medicine & Community Health Archives. 1:78-87

Subject Terms: 0301 basic medicine, Cancer Research, Cancer cell, Cancer research, Lipid Metabolism in Cancer Pathogenesis, Tumor cells, Biochemistry, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Tumor Microenvironment, Genetics, Isozyme, Molecular Biology, Biology, Cancer, 0303 health sciences, ATP Synthase Function and Regulation, Life Sciences, Cellular metabolism, 3. Good health, Chemistry, Metabolism, Tumor microenvironment, Enzyme, Cancer treatment, FOS: Biological sciences, Cancer Cell Metabolism, Metabolic Reprogramming in Cancer Biology

Exploration of anti‐leukemic effect of soft coral‐derived 13‐acetoxysarcocrassolide: Induction of apoptosis via oxidative stress as a potent inhibitor of heat shock protein 90 and topoisomerase II

Authors: Hsien‐Kuo Chin, Mei‐Chin Lu, Kai‐Cheng Hsu, Mohamed El‐Shazly, Tsen‐Ni Tsai, Tzu‐Yung Lin, Shou‐Ping Shih, Tony Eight Lin, Zhi‐Hong Wen, Yuxing Yang, Yi‐Chang Liu

Source: Kaohsiung J Med Sci
Kaohsiung Journal of Medical Sciences, Vol 39, Iss 7, Pp 718-731 (2023)

Subject Terms: topoisomerase II, Medicine (General), Cytotoxic T cell, Sponge-Associated Microorganisms and Biotechnological Potential, Antineoplastic Agents, Apoptosis, Biochemistry, Gene, Mice, R5-920, In vitro, Cell Line, Tumor, Biochemistry, Genetics and Molecular Biology, Molecular Mechanisms of Apoptosis and Cell Death, oxidative stress, Humans, Animals, 13‐Acetoxysarcocrassolide, heat shock protein 90, Molecular Biology, Phosphatidylserine, Biology, Heat-Shock Proteins, Pharmacology, Cell Death, Heat shock protein, ATP Synthase Function and Regulation, leukemia, Membrane, Life Sciences, Original Articles, Anthozoa, Molecular Docking Simulation, Oxidative Stress, Phospholipid, DNA Topoisomerases, Type II, Oxidative stress, Medicine, Reactive Oxygen Species, Reactive oxygen species, Biotechnology

Access URL: https://pubmed.ncbi.nlm.nih.gov/37052190
https://doaj.org/article/2d4ed815365243b2aa707429a8bfbfe4

Leigh Syndrome in a Filipino Child: A Case Report

Authors: Michelle G Sy, Ma. Antonia Aurora Moral-Valencia

Source: Journal of Medicine, University of Santo Tomas. 6:1027-1038

Subject Terms: Exome sequencing, 0301 basic medicine, Alternative medicine, Clinical Biochemistry, Pediatrics, Gene, 03 medical and health sciences, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Cognition, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology, Genetics, Pathology, Disease, Exome, Molecular Biology, Biology, Psychiatry, Leigh disease, ATP Synthase Function and Regulation, Inborn Errors of Metabolism, Psychomotor learning, Life Sciences, Mitochondrial disease, Mitochondrial DNA, 3. Good health, FOS: Biological sciences, Mutation, Medicine, Ataxia, Metabolic Disorders and Biochemical Genetics, Psychomotor retardation, Genetic counseling

KRAS-mutant non-small cell lung cancer (NSCLC) therapy based on tepotinib and omeprazole combination

Authors: R. Rosell, Eloísa Jantus‐Lewintre, Peng Cao, Xueting Cai, B. Xing, Masaoki Ito, Jose Luis Gomez-Vazquez, Mireia Marco-Jordán, Silvia Calabuig‐Fariñas, Andrés Felipe Cardona Zorrilla, Jordi Codony‐Servat, Jessica González, Kevin València-Clua, Andrés Aguilar, Carlos Pedraz‐Valdunciel, Zahra Dantes, Anisha Jain, Chandan Shivamallu, Miguel Ángel Molina‐Vila, Óscar Arrieta, Macarena Ferrero, Carlos Camps, María González‐Cao

Contributors: Departamento de Biotecnología, Centro Avanzado de Microbiología Aplicada, Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural, University of Jinan, Jiangsu Provincial Medical Center, Asociación Española Contra el Cáncer, National Natural Science Foundation of China, Taishan Scholar Project of Shandong Province, Repositorio Institucional de la Universitat Politècnica de València Riunet, Universitat Autònoma de Barcelona

Source: Cell Commun Signal
RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
Universitat Politècnica de València (UPV)
Cell Communication and Signaling
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-FIHGUV. Repositorio Institucional de Producción Científica de la Fundación de Investigación del Hospital General de Valencia
Fundación de Investigación del Hospital General de Valencia (FIHGUV)
Cell Communication and Signaling, Vol 22, Iss 1, Pp 1-15 (2024)

Subject Terms: 0301 basic medicine, Kinase, Lung Neoplasms, Pyridines, BIOLOGIA CELULAR, Biochemistry, Piperazines, Mice, Cell growth, Piperidines, Carcinoma, Non-Small-Cell Lung, Antineoplastic Combined Chemotherapy Protocols, Internal medicine, Melanoma, mTOR Signaling in Growth and Disease, Cancer, 0303 health sciences, Triazines, ATP Synthase Function and Regulation, Dabrafenib, Life Sciences, Proto-Oncogene Proteins c-met, 3. Good health, Pyridazines, Chemistry, RNA Methylation and Modification in Gene Expression, Medicine, Female, Immunotherapy, Lung cancer, Omeprazole, Farmacologia, Pyridones, Mice, Nude, Non-small cell lung cancer (NSCLC), Pyrimidinones, Cancer research, Metastatic melanoma, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Trametinib, Cell Line, Tumor, Biochemistry, Genetics and Molecular Biology, KRAS, Genetics, Chemotherapy, Humans, Animals, Molecular Biology, Biology, Pharmacology, MEK inhibitor, QH573-671, Research, Xenograft Model Antitumor Assays, Colorectal cancer, Pyrimidines, Gene Expression Regulation, Vemurafenib, Drug Resistance, Neoplasm, FOS: Biological sciences, Mutation, Càncer de pulmó, Cell culture, MAPK/ERK pathway, Cytology, MET receptor tyrosine kinase (c-MET)

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38867255
https://riunet.upv.es/handle/10251/207443
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15346
https://cipf.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4373
https://hdl.handle.net/2445/214949
https://fihguv.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2365
https://doaj.org/article/6654162f004044148f38c519b8f50a91
https://hdl.handle.net/10251/207443
https://doi.org/10.1186/s12964-024-01667-x

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Authors: Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra‐Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Júlia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gušić, Stéphanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martínez‐Agosto, Amanda Lam, Andreea Manole, Diego Pérez‐Rodríguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi‐Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael G. Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden

Source: Am J Hum Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 109, 9, pp. 1692-1712
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M, Grønborg, S, Sudarsanam, A, Vogt, J, Arrigoni, F, Baptista, J, Haider, S, Feichtinger, R G, Bernardi, P, Zulian, A, Gusic, M, Efthymiou, S, Bai, R, Bibi, F, Horga, A, Martinez-Agosto, J A, Lam, A, Manole, A, Rodriguez, D P, Durigon, R, Pyle, A, Albash, B, Dionisi-Vici, C, Murphy, D, Martinelli, D, Bugiardini, E, Allis, K, Lamperti, C, Reipert, S, Risom, L, Laugwitz, L, Di Nottia, M, McFarland, R, Vilarinho, L, Hanna, M, Prokisch, H, Mayr, J A, Bertini, E S, Ghezzi, D, Østergaard, E, Wortmann, S B, Carrozzo, R, Haack, T B, Taylor, R W, Spinazzola, A, Nowikovsky, K & Houlden, H 2022, ' Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement ', American Journal of Human Genetics, vol. 109, no. 9, pp. 1692-1712 . https://doi.org/10.1016/j.ajhg.2022.07.007
Am. J. Hum. Genet. 109, 1692-1712 (2022)

Subject Terms: genetics, LETM1, mitochondria, mitochondrial diseases, neurodegeneration, neurology, oxidative phosphorylation, potassium transport, volume homeostasis, Wolf-Hirschhorn syndrome, 0301 basic medicine, Leucine zipper, Mitochondrial Diseases, Molecular biology, Clinical Biochemistry, PROTEIN, PHENOTYPE, Nervous System, Gene, Biochemistry, Homeostasis, MDM38, K+/H+ EXCHANGE, Allele, 0303 health sciences, ATP Synthase Function and Regulation, Life Sciences, WHS CRITICAL REGION, ASSOCIATION, Mitochondrial DNA, Mitochondria, 3. Good health, SDG 3 – Gesundheit und Wohlergehen, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Metabolic Disorders and Biochemical Genetics, Genetics, Letm1, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome, 106025 Neurobiologie, Receptor, CANDIDATE GENE, Humans, Membrane Proteins, Mitochondrial Proteins, Saccharomyces cerevisiae, Calcium-Binding Proteins, METABOLISM, CALCIUM, Article, Transmembrane protein, 03 medical and health sciences, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, SDG 3 - Good Health and Well-being, Biochemistry, Genetics and Molecular Biology, Oxidative phosphorylation, Mitochondrion, Molecular Biology, Biology, 106025 Neurobiology, FOS: Biological sciences, WOLF-HIRSCHHORN-SYNDROME, Transcription factor, Mitochondrial Function

File Description: application/pdf; text/html

Access URL: https://pubmed.ncbi.nlm.nih.gov/36055214
https://hdl.handle.net/20.500.12530/106931
https://ucrisportal.univie.ac.at/de/publications/67db2e0f-a450-4d34-9edc-940160adc8af
https://doi.org/10.1016/j.ajhg.2022.07.007
https://repository.ubn.ru.nl/handle/2066/283148
https://repository.ubn.ru.nl//bitstream/handle/2066/283148/283148.pdf
https://curis.ku.dk/ws/files/321322872/1_s2.0_S0002929722003111_main.pdf
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080
https://discovery-pp.ucl.ac.uk/id/eprint/10155215/

Anticancer and Apoptotic Activity in Neuroblastoma SK-N-SH using Phospholipid Extract from Bone of Scomberomorus niphonius

Authors: Anley Teferra Kiddane, Vikash Chandra Roy, Moon‐Sik Kang, Maheshkumar Prakash Patil, Byung‐Soo Chun, Gun‐Do Kim

Source: Chemical Biology & Drug Design. 102:424-433

Subject Terms: 0301 basic medicine, Molecular biology, Viability assay, Apoptosis, Western blot, Biochemistry, Gene, Neuroblastoma, 03 medical and health sciences, Cell Line, Tumor, Biochemistry, Genetics and Molecular Biology, Health Sciences, Molecular Mechanisms of Apoptosis and Cell Death, Genetics, Animals, Molecular Biology, Biology, Phospholipids, bcl-2-Associated X Protein, Programmed cell death, Pharmacology, 0303 health sciences, ATP Synthase Function and Regulation, Caspase 3, Fishes, Membrane, Life Sciences, Caspase 9, Chemistry, Phospholipid, Neurology, FOS: Biological sciences, Neuroblastoma Research and Treatment, Medicine, Cell culture

Access URL: https://pubmed.ncbi.nlm.nih.gov/36303298

Structural Insights into the Inhibition Site in the Phosphorylcholine Phosphatase Enzyme of Pseudomonas aeruginosa

Authors: Daniel Bustos, Erix W. Hernández‐Rodríguez, Horacio Poblete, Jans Alzate‐Morales, Cecilia Challier, Cristhian Boetsch, Ariela Vergara‐Jaque, Paola R. Beassoni

Source: Journal of Chemical Information and Modeling. 62:3067-3078

Subject Terms: 0301 basic medicine, Phosphorylcholine, Microbiology, Biochemistry, Phosphates, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Phosphatase, Alkaline phosphatase, Genetics, Humans, Molecular Biology, Biology, 0303 health sciences, Protein Structure Prediction and Analysis, Bacteria, ATP Synthase Function and Regulation, 4. Education, cavities, Life Sciences, Role of Carbonic Anhydrases in Medicine and Biotechnology, bioinformatics, inhibition, Phosphoric Monoester Hydrolases, 3. Good health, Molecular Docking Simulation, enzyme, Chemistry, Enzyme, FOS: Biological sciences, Pseudomonas aeruginosa

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/35670773
http://hdl.handle.net/11336/267657

Novel betulin derivatives as multidrug reversal agents targeting P-glycoprotein

Authors: Jerónimo Laiolo, Dafni G. Graikioti, Cecilia L. Barbieri, Mariana Belén Joray, Antonia I. Antoniou, D. Mariano A. Vera, Constantinos M. Athanassopoulos, Marı́a C. Carpinella

Source: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-23 (2024)

Subject Terms: 0301 basic medicine, ATP Binding Cassette Transporter, Subfamily B, Science, Cytotoxicity, Antineoplastic Agents, Multiple drug resistance, Cancer cell, INHIBIRES DE P-GP, P-glycoprotein, Transporter, Biochemistry, Gene, Article, Efflux, 03 medical and health sciences, In vitro, Antibiotics, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Humans, Chemotherapy, Rhodamine 123, ATP Binding Cassette Transporter, Subfamily B, Member 1, Molecular Biology, Biology, Cancer, Pharmacology, 0303 health sciences, Biological Activities of Triterpenoids and Saponins, ATP Synthase Function and Regulation, Mechanisms of Multidrug Resistance in Cancer, Life Sciences, Proton Pump Inhibitors, Intracellular, 3. Good health, Chemistry, Oncology, Drug Resistance, Neoplasm, Doxorubicin, FOS: Biological sciences, Leukocytes, Mononuclear, Medicine, K562 Cells, DERIVADOS DE BETULINA

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38167542
https://doaj.org/article/f381725f2d524faaa32d931396d88f23
http://hdl.handle.net/11336/240402

Síndrome de MELAS como causa de estado epiléptico en niños: Reporte del caso de dos hermanos en Perú

Authors: Alicia Tirado-Chavarría, Eda J. Donayre-Rodríguez, Daniel Guillén–Pinto

Source: Revista de Neuro-Psiquiatría, Volume: 85, Issue: 4, Pages: 319-326, Published: 14 DEC 2022

Subject Terms: Immunology and Microbiology, status epilepticus, ATP Synthase Function and Regulation, Innate Immunity to Viral Infection, FOS: Clinical medicine, Immunology, epileptic seizures, Life Sciences, FOS: Humanities, crisis epiléptica, hyperlactatemia, hiperlactacidemia, Perú, Humanities, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Síndrome MELAS, Biochemistry, Genetics and Molecular Biology, Peru, Mitochondrial Dysfunction, Medicine, estado epiléptico, MELAS syndrome, Molecular Biology, Art

File Description: text/html

Access URL: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S0034-85972022000400319&lng=en&tlng=en

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Authors: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., Almass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., Cazorla, M., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M.P., Taylor, J.C., Alsaif, H.S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q.S., Schmitt-Mechelke, T., Ziegler, A., Issa, M.Y., Elbendary, H.M., Striano, P., Alkuraya, F.S., Zaki, M.S., Gleeson, J.G., Barakat, T.S., Bierau, J., van der Knaap, M.S., Maroofian, R., Houlden, H.

Source: Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419
Hum. Mutat. 43, 403-419 (2022)

Subject Terms: Exome sequencing, FOS: Computer and information sciences, 0301 basic medicine, Physiology, heart disease, white matter abnormalities, Encephalopathy, Pediatrics, Gene, Pyrophosphatases, Internal medicine, Research Articles, 0303 health sciences, ATP Synthase Function and Regulation, Life Sciences, ASSOCIATION, Prognosis, 3. Good health, Phenotype, Inosine Triphosphatase, Microcephaly, GROWTH, Medicine, ITPase, Epilepsy, Generalized, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, congenital microcephaly, developmental and epileptic encephalopathy 35, ITPA, Humans, Inosine, Inosine Triphosphate, Mutation, Lysosomal Storage Disorders in Human Health and Disease, Genotype, Bioinformatics, Enzyme Regulation, Itpa, Itpase, Congenital Microcephaly, Developmental And Epileptic Encephalopathy 35, Heart Disease, White Matter Abnormalities, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Biochemistry, Genetics and Molecular Biology, Health Sciences, Ribavirin, Genetics, NUCLEOTIDE POOLS, Molecular Biology, Biology, Epilepsy, MUTATIONS, Nucleotide Metabolism and Enzyme Regulation, FOS: Biological sciences, RETARDATION, Neuroscience

File Description: application/pdf

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https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/283128
https://doi.org/10.1002/humu.24326
https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382
https://doi.org/10.1002/humu.24326
https://research.vu.nl/en/publications/f1895b2e-8f94-4932-a37a-30cbfce24676
https://hdl.handle.net/1871.1/f1895b2e-8f94-4932-a37a-30cbfce24676
https://doi.org/10.1002/humu.24326
https://cris.maastrichtuniversity.nl/en/publications/4a65fa63-9e65-4f68-9186-ac4e7e5c9167
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https://research.vumc.nl/en/publications/ab0f523f-283b-4ff5-9638-a2480282ed32
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https://doi.org/10.1002/humu.24326
https://repository.ubn.ru.nl/handle/2066/283128
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https://avesis.aybu.edu.tr/publication/details/80b5dd8c-2355-4842-bc5c-81ec5bccb092/oai
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64010
https://hdl.handle.net/11567/1095864
https://doi.org/10.1002/humu.24326
https://discovery-pp.ucl.ac.uk/id/eprint/10142352/

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Authors: Francesca Magrinelli, Elisa Calì, Vinícius Lopes Braga, Uluç Yiş, Hoda Tomoum, Hanan E. Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Póvoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horváth, Semra Hız, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian

Contributors: DSpace at Cambridge pro (8.1)

Source: Mov Disord Clin Pract
Magrinelli, F, Cali, E, Braga, V L, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, F M, Povoas Barsottini, O G, Taylor, R W, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, J M, Zaki, M S, Kok, F, Bhatia, K P, Wissinger, B, Sergeant, K, Haack, T B, Horvath, R, Hiz, S, Alkuraya, F S, Houlden, H, Pedroso, J L & Maroofian, R 2022, ' Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy ', Movement Disorders Clinical Practice, vol. 9, no. 2, pp. 218-228 . https://doi.org/10.1002/mdc3.13398

Subject Terms: NDUFA12, Clinical Biochemistry, Gene, Genetic heterogeneity, 03 medical and health sciences, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology, Pathology, Genetics, optic atrophy, Molecular Biology, Biology, Leigh disease, ATP Synthase Function and Regulation, BRIEF REPORTS, Life Sciences, Leigh syndrome, Mitochondrial disease, Loss function, Mitochondrial DNA, phenotypic heterogeneity, 3. Good health, Dystonia, Phenotype, FOS: Biological sciences, Mitochondrial Dysfunction, Medicine, Brief Reports, dystonia, Atrophy, Metabolic Disorders and Biochemical Genetics, Neuroscience, BRIEF REPORT

File Description: application/pdf; text/xml

Access URL: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf
https://pubmed.ncbi.nlm.nih.gov/35141356
https://hdl.handle.net/11562/1057662
https://doi.org/10.1002/mdc3.13398
https://avesis.deu.edu.tr/publication/details/5318fc20-f75f-4d1a-b2a1-bb1a8495e4fe/oai
https://curis.ku.dk/ws/files/305536910/Movement_Disord_Clin_Pract_2021_Magrinelli_Biallelic_Loss_of_Function_NDUFA12_Variants_Cause_a_Wide_Phenotypic.pdf
https://www.repository.cam.ac.uk/handle/1810/332491
https://doi.org/10.1002/mdc3.13398
https://doi.org/10.17863/cam.79941
https://discovery-pp.ucl.ac.uk/id/eprint/10141102/

Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder

Authors: Chupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, Tomohiro Matsuhashi, Masaru Shimura, Yohei Sugiyama, Takanori Onuki, Akira Ohtake, Kei Murayama, Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit, Phawin Kor‐anantakul, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Source: Sci Rep
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)

Subject Terms: Male, Ribosomal Proteins, Exome sequencing, Sanger sequencing, Mitochondrial respiratory chain, Mitochondrial Diseases, Molecular biology, Science, Gene, Article, Proband, Mitochondrial Proteins, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Endocrinology, Mitochondrial Encephalomyopathies, Biochemistry, Genetics and Molecular Biology, Genetics, Humans, DNA sequencing, Mitochondrion, Molecular Biology, Biology, Genetic disorder, Mitochondrial myopathy, Leigh disease, ATP Synthase Function and Regulation, Lactic acidosis, Life Sciences, Metabolic disorder, Mitochondrial disease, Mitochondrial DNA, Mitochondria, 3. Good health, RNA Methylation and Modification in Gene Expression, FOS: Biological sciences, Mitochondrial Dysfunction, Mutation, Medicine, Acidosis, Lactic

Access URL: https://pubmed.ncbi.nlm.nih.gov/38086984
https://doaj.org/article/3ffc143198a147598f15385625c81b7d

Targeting mitochondrial shape: at the heart of cardioprotection

Authors: Sauri Hernández‐Reséndiz, Aishwarya Prakash, Sze Jie Loo, Martina Semenzato, Kroekkiat Chinda, Gustavo E. Crespo-Avilan, Linh Chi Dam, Shengjie Lu, Luca Scorrano, Derek J. Hausenloy

Source: Basic Res Cardiol

Subject Terms: Cell biology, Pathophysiology of Myocardial Reperfusion Injury, Myocardial Infarction, Cardiology, Heart failure, Apoptosis, Acute myocardial infarction, Cardioprotection, Biochemistry, Gene, Pathology and Forensic Medicine, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Mitochondria at the Heart of Cardioprotection, Ischemia, Biochemistry, Genetics and Molecular Biology, Health Sciences, Humans, Myocytes, Cardiac, Mitochondrion, Ischemic Preconditioning, Molecular Biology, Internal medicine, Biology, Programmed cell death, Heart Failure, Pharmacology, Myocytes, Mitochondrial permeability transition pore, Mitochondrial morphology, ATP Synthase Function and Regulation, Myocardium, Acute myocardial ischemia–reperfusion injury, Life Sciences, Mitochondrial DNA, 3. Good health, Mitochondria, Reperfusion injury, Myocardial infarction, Cardiovascular diseases, mitochondrial fusion, Medicine, Mitochondrial Fission, Reactive oxygen species, Cardiac

Access URL: https://pubmed.ncbi.nlm.nih.gov/37955687
https://discovery-pp.ucl.ac.uk/id/eprint/10182471/

Stage‐cost design for optimal and model predictive control of linear port‐Hamiltonian systems: Energy efficiency and robustness

Authors: Gökçen Devlet Şen, Manuel Schaller, Karl Worthmann

Source: PAMM. 23

Subject Terms: Optimization, Real-time Optimization, 0209 industrial biotechnology, Artificial intelligence, Robustness (evolution), Geometry, Control (management), 02 engineering and technology, Mathematical analysis, Gene, Biochemistry, 7. Clean energy, Engineering, Biochemistry, Genetics and Molecular Biology, 0202 electrical engineering, electronic engineering, information engineering, Control theory (sociology), FOS: Mathematics, Modeling and Control of Port-Hamiltonian Systems, Model predictive control, Molecular Biology, Constraint Handling, ATP Synthase Function and Regulation, Passivity-Based Control, Mathematical optimization, Life Sciences, Quadratic equation, Computer science, Optimal control, Chemistry, Model Predictive Control in Industrial Processes, Control and Systems Engineering, Physical Sciences, Robust Control, Mathematics, Discretization, Hamiltonian (control theory)

Energetic Metabolic Reprogramming in Jurkat DFF40 Deficient Cancer Cells

Authors: Merve Kulbay, Bruno Johnson, Guillaume Ricaud, Marie-Noëlle Séguin-Grignon, Jacques Bernier

Source: Molecular and Cellular Biochemistry. 477:2213-2233

Subject Terms: 0301 basic medicine, Cell biology, Molecular biology, Apoptosis, Cancer cell, DNA fragmentation, DNA Fragmentation, Cancer research, Biochemistry, Gene, Jurkat Cells, 03 medical and health sciences, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Neoplasms, Biochemistry, Genetics and Molecular Biology, Molecular Mechanisms of Apoptosis and Cell Death, Genetics, Humans, DFF40, Mitochondrion, Molecular Biology, Biology, Cell proliferation, Programmed cell death, Cancer, 0303 health sciences, Deoxyribonucleases, TNF Signaling, ATP Synthase Function and Regulation, Energetic metabolism, Life Sciences, T cell, Reprogramming, DNA, Mitochondrial DNA, Mitochondria, 3. Good health, Jurkat cells, Immune system, Proto-Oncogene Proteins c-bcl-2, Caspases, FOS: Biological sciences, Warburg effect, Cell, Apoptosis Regulatory Proteins

Access URL: https://pubmed.ncbi.nlm.nih.gov/35460011
https://www.researchsquare.com/article/rs-925720/v1
https://www.researchsquare.com/article/rs-925720/v1.pdf

Protein networks linking Warburg and reverse Warburg effects to cancer cell metabolism

Authors: Rania M. Khalil, Larry H. Bernstein, Dina Johar, Samy Zaky, Ahmed O. Elmehrath, Mostafa H. Elberry, Samy A. Shalabi

Source: BioFactors. 47:713-728

Subject Terms: 0301 basic medicine, Cancer Research, Cell biology, Carcinogenesis, Cancer cell, Cancer research, Biochemistry, Mice, Cell growth, 03 medical and health sciences, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Neoplasms, Biochemistry, Genetics and Molecular Biology, Warburg Effect, Oncologic, Genetics, Animals, Humans, Oxidative phosphorylation, Lactic Acid, Anaerobic glycolysis, Molecular Biology, Biology, Cancer, ATP Synthase Function and Regulation, Life Sciences, Epithelial Cells, 3. Good health, Chemistry, Metabolism, FOS: Biological sciences, Cancer Cell Metabolism, Metabolic Reprogramming in Cancer Biology, Warburg effect, Glycolysis, Warburg Effect

Access URL: https://zenodo.org/record/5322791/files/biof.1768.pdf
https://pubmed.ncbi.nlm.nih.gov/34453457
https://iubmb.onlinelibrary.wiley.com/doi/10.1002/biof.1768
https://pubmed.ncbi.nlm.nih.gov/34453457/
http://pubmed.ncbi.nlm.nih.gov/34453457/

Conformational changes during the reaction cycle of plasma membrane Ca2+-ATPase in the autoinhibited and activated states

Authors: Nicolás A. Saffioti, Marilina de Sautu, Ana Sol Riesco, Mariela Ferreira-Gomes, Juan Pablo F.C. Rossi, Irene C. Mangialavori

Source: Biochemical Journal. 478:2019-2034

Subject Terms: 0301 basic medicine, Protein Conformation, Biophysics, Extracellular, P-ATPASES, Biochemistry, Dephosphorylation, Binding site, Plasma Membrane Calcium-Transporting ATPases, 03 medical and health sciences, Adenosine Triphosphate, Calmodulin, Plasma membrane Ca2+ ATPase, E2P-LIKE STATES, Biochemistry, Genetics and Molecular Biology, Phosphatase, Humans, ATPase, HYDROPHOBIC PHOTOLABELING, Phosphorylation, Molecular Biology, Biology, Endoplasmic Reticulum Stress and Unfolded Protein Response, 0303 health sciences, Binding Sites, ATP Synthase Function and Regulation, PROTEINASE K CLEAVAGE, Cell Membrane, Membrane, Life Sciences, Cell Biology, Conformational change, Intracellular, 3. Good health, Molecular Mechanisms of Ion Channels Regulation, Kinetics, Chemistry, AUTOINHIBITORY INTERACTION, Enzyme, Proteolysis, Calcium, NUCLEOTIDE BINDING POCKET, Protein Binding, Vacuolar H+-ATPase

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/33974040
https://pubmed.ncbi.nlm.nih.gov/33974040/
https://europepmc.org/article/MED/33974040
https://www.ncbi.nlm.nih.gov/pubmed/33974040
https://portlandpress.com/biochemj/article/478/10/2019/228632/Conformational-changes-during-the-reaction-cycle
http://hdl.handle.net/11336/157839

Hydralazine protects the heart against acute ischaemia/reperfusion injury by inhibiting Drp1-mediated mitochondrial fission

Authors: En Ping Yap, Derek J. Hausenloy, Jaime A. Riquelme, Derek M. Yellon, Shiang Y. Lim, Joana R. Costa, Jessica K. Holien, Siavash Beikoghli Kalkhoran, Gustavo E. Crespo-Avilan, Janos Kriston-Vizi, Ayeshah Augusta Rosdah, Jarmon G Lees, Parisa Samangouei, Sauri Hernández-Reséndiz, Naomi X.Y. Ling, Kroekkiat Chinda, Robin Ketteler

Source: Cardiovasc Res

Subject Terms: Dynamins, Male, Cell biology, Pathophysiology of Myocardial Reperfusion Injury, Myocardial Infarction, Mice, Transgenic, Myocardial Reperfusion Injury, Apoptosis, Cardioprotection, Mitochondrial Dynamics, Biochemistry, Antioxidants, Mitochondria, Heart, Pathology and Forensic Medicine, Mitochondrial Dynamics and Reactive Oxygen Species Regulation, Ischemia, Biochemistry, Genetics and Molecular Biology, Health Sciences, Animals, Humans, Myocytes, Cardiac, Hydralazine • Cardioprotection • Acute myocardial ischaemia/reperfusion injury • Mitochondrial fission, Enzyme Inhibitors, Mitochondrion, Molecular Biology, Biology, Internal medicine, Programmed cell death, Pharmacology, Mitochondrial permeability transition pore, ATP Synthase Function and Regulation, Mitochondrial fission, Acute myocardial ischaemia/reperfusion injury, Life Sciences, Isolated Heart Preparation, Original Articles, Hydralazine, 3. Good health, Mice, Inbred C57BL, Reperfusion injury, Disease Models, Animal, Oxidative Stress, Blood pressure, Medicine, Female, HeLa Cells

File Description: application/pdf

Access URL: https://academic.oup.com/cardiovascres/advance-article-pdf/doi/10.1093/cvr/cvaa343/35383792/cvaa343.pdf
https://pubmed.ncbi.nlm.nih.gov/33386841
https://www.ncbi.nlm.nih.gov/pubmed/33386841
https://pubmed.ncbi.nlm.nih.gov/33386841/
https://discovery.ucl.ac.uk/id/eprint/10118895/
https://discovery-pp.ucl.ac.uk/id/eprint/10118895/