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المؤلفون: Antonio Barrientos, Kristen L. Sund, Julia E. Dallman, Adriana P. Rebelo, Stephan Züchner, Zubair M. Ahmed, Xinjian Wang, Claudia Zanna, Andrea H. Németh, Leonardo Caporali, Carlos E. Prada, Neville Patel, Ion J. Campeanu, Feifei Tao, Susan M. Downes, Laura Krueger, Alessandra Maresca, Cynthia A. Prows, Anthony Antonellis, Saskia Groenewald, Lisa Abreu, Fiorella Speziani, Alleene V. Strickland, Yaping Yang, Michael A. Gonzalez, Taosheng Huang, Elizabeth K. Schorry, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Flavia Fontanesi, Laurie B. Griffin, Alexander J. Abrams, Robert B. Hufnagel, Jeffery Prince, Rocco Liguori, Raffaele Lodi, Omar A. Abdul-Rahman, Holly H. Zimmerman, Yanyan Peng
المساهمون: Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schule, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A.H., Carelli, V., Huang, T., Zuchner, S., Dallman, J.E.
المصدر: Europe PubMed Central
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature geneticsمصطلحات موضوعية: Male, Embryo, Nonmammalian, MFN2, Muscle Proteins, IMMT protein, human, DOA, genetics [Muscle Proteins], medicine.disease_cause, Animals, Genetically Modified, pathology [Optic Atrophy, Autosomal Dominant], metabolism [Optic Atrophy, Autosomal Dominant], 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, genetics [Phosphate Transport Proteins], genetics [Exome], Phosphate Transport Proteins, Exome, metabolism [Zebrafish], genetics [Genetic Predisposition to Disease], embryology [Embryo, Nonmammalian], Zebrafish, Genetics, 0303 health sciences, Mutation, Microscopy, Confocal, biology, Pedigree, genetics [Membrane Proteins], xonal peripheral neuropathy, mitochondrial fusion, Mitochondrial Membranes, COS Cells, Female, genetics [Mitochondrial Proteins], RNA Interference, genetics [Charcot-Marie-Tooth Disease], Protein Binding, UGO1 protein, S cerevisiae, metabolism [Embryo, Nonmammalian], Saccharomyces cerevisiae Proteins, Dominant optic atrophy, Charcot-Marie-Tooth type 2, CMT2, metabolism [Muscle Proteins], genetics [Optic Atrophy, Autosomal Dominant], metabolism [Phosphate Transport Proteins], Article, ultrastructure [Embryo, Nonmammalian], metabolism [Mitochondrial Proteins], Mitochondrial Proteins, 03 medical and health sciences, Atrophy, Microscopy, Electron, Transmission, ddc:570, Optic Atrophy, Autosomal Dominant, metabolism [Mitochondrial Membranes], medicine, Animals, Humans, Inner membrane, Genetic Predisposition to Disease, Hereditary Neurodegenerative Disorder, genetics [Saccharomyces cerevisiae Proteins], 030304 developmental biology, Membrane Proteins, Sequence Analysis, DNA, metabolism [Saccharomyces cerevisiae Proteins], biology.organism_classification, medicine.disease, eye diseases, HEK293 Cells, metabolism [Charcot-Marie-Tooth Disease], Membrane protein, embryology [Zebrafish], hereditary neurodegenerative disorder, metabolism [Membrane Proteins], 030217 neurology & neurosurgery, SLC25A46 protein, human
وصف الملف: STAMPA
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المؤلفون: Ratan Bhat, Martin Distel, Astrid Sydow, Sven Hellberg, Bettina Schmid, Stefan von Berg, Eva-Maria Mandelkow, Christian Haass, Dominik Paquet, Reinhard W. Köster, Johanna Fälting
المصدر: The journal of clinical investigation 119(5), 1382-1395 (2009). doi:10.1172/JCI37537
Journal of Clinical Investigation; Vol 119
J. Clin. Invest. 119, 1382-1395 (2009)مصطلحات موضوعية: pathology [Tauopathies], Models, Molecular, Pathology, antagonists & inhibitors [Glycogen Synthase Kinase 3], Embryo, Nonmammalian, Protein Conformation, Drug Evaluation, Preclinical, pharmacology [Enzyme Inhibitors], genetics [Luminescent Proteins], metabolism [Synaptotagmins], Animals, Genetically Modified, pharmacokinetics [Enzyme Inhibitors], Glycogen Synthase Kinase 3, Synaptotagmins, 0302 clinical medicine, GSK-3, Escape Reaction, pathology [Neurons], drug therapy [Tauopathies], Enzyme Inhibitors, Phosphorylation, pathology [Embryo, Nonmammalian], drug effects [Motor Neurons], Zebrafish, Motor Neurons, Neurons, 0303 health sciences, chemistry [Enzyme Inhibitors], biology, Cell Death, Molecular Structure, General Medicine, drug effects [Embryo, Nonmammalian], 3. Good health, Cell biology, genetics [Glycogen Synthase Kinase 3], Spinal Cord, Tauopathies, Technical Advance, metabolism [Neurons], Larva, Tauopathy, Alzheimer's disease, GSK3B protein, human, anatomy & histology [Larva], red fluorescent protein, medicine.medical_specialty, metabolism [Embryo, Nonmammalian], metabolism [Spinal Cord], animal structures, pathology [Motor Neurons], Tau protein, Hyperphosphorylation, MAPT protein, human, tau Proteins, pathology [Spinal Cord], metabolism [Larva], 03 medical and health sciences, drug effects [Phosphorylation], In vivo, chemistry [Glycogen Synthase Kinase 3], mental disorders, medicine, paired helical filaments, glycogen-synthase kinase-3, protein-tau tau, alzheimers-disease, transgenic zebrafish, neurodegenerative diseases, danio-rerio, phosphorylation, degeneration, expression, drug effects [Neurons], Animals, Humans, abnormalities [Embryo, Nonmammalian], ddc:610, metabolism [Luminescent Proteins], GSK3B, 030304 developmental biology, genetics [Zebrafish], Glycogen Synthase Kinase 3 beta, drug effects [Larva], metabolism [Motor Neurons], medicine.disease, biology.organism_classification, metabolism [tau Proteins], genetics [tau Proteins], Disease Models, Animal, Luminescent Proteins, Drug Design, biology.protein, methods [Drug Evaluation, Preclinical], metabolism [Tauopathies], Sequence Alignment, 030217 neurology & neurosurgery
وصف الملف: application/pdf