نتائج البحث - "genetics [Muscle Proteins]"

1

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

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 genetics

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c99761b28161ae30b9a283860a0ba15
https://doi.org/10.1038/ng.3354

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2

Establishing the role of rare coding variants in known Parkinson's disease risk loci

المؤلفون: Jansen, IE, Gibbs, JR, Nalls, MA, Price, T R, Lubbe, S, van Rooij, J, Uitterlinden, André, Kraaij, Robert, Williams, NM, Brice, A, Hardy, J, Wood, NW, Morris, HR, Gasser, T, Singleton, AB, Heutink, P, Sharma, M, Int Parkinsons Genomics, C

المساهمون: Internal Medicine, Erasmus MC other, Neurology, Amsterdam Neuroscience - Neurodegeneration

المصدر: Neurobiol Aging
Neurobiology of Aging, 59:220.e11. Elsevier Inc.
Neurobiology of Aging, 59, 220.e11-220.e18. Elsevier Inc.
Jansen, I E, Gibbs, J R, Nalls, M A, Price, T R, Lubbe, S, van Rooij, J, Uitterlinden, A G, Kraaij, R, Williams, N M, Brice, A, Hardy, J, Wood, N W, Morris, H R, Gasser, T, Singleton, A B, Heutink, P, Sharma, M & International Parkinson's Disease Genomics Consortium 2017, ' Establishing the role of rare coding variants in known Parkinson's disease risk loci ', Neurobiology of Aging, vol. 59, pp. 220.e11-220.e18 . https://doi.org/10.1016/j.neurobiolaging.2017.07.009
Neurobiology of aging 59, 220.e11-220.e18 (2017). doi:10.1016/j.neurobiolaging.2017.07.009

مصطلحات موضوعية: 0301 basic medicine, Risk, Aging, Datasets as Topic, Muscle Proteins, Genomics, Genome-wide association study, Disease, genetics [Genetic Loci], Biology, genetics [Muscle Proteins], Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Article, Mitochondrial Proteins, 03 medical and health sciences, genetics [Parkinson Disease], Humans, Genetic Predisposition to Disease, ddc:610, genetics [Seminal Plasma Proteins], LRRK2 protein, human, genetics [Genetic Predisposition to Disease], Gene, Exome sequencing, Genetic association, Genetics, SPATA19 protein, human, General Neuroscience, Seminal Plasma Proteins, Genetic Variation, Membrane Proteins, Parkinson Disease, LRRK2, genetics [Genetic Variation], genetics [Membrane Proteins], 030104 developmental biology, Genetic Loci, genetics [Leucine-Rich Repeat Serine-Threonine Protein Kinase-2], genetics [Mitochondrial Proteins], GENX-3414 protein, human, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology, Common disease-common variant, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5495dbd7e750fdfd558871130548175
https://pubmed.ncbi.nlm.nih.gov/28867149

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3

Endophilin-A Deficiency Induces the Foxo3a-Fbxo32 Network in the Brain and Causes Dysregulation of Autophagy and the Ubiquitin-Proteasome System

المؤلفون: Murdoch, John D., Rostosky, Christine M., Gowrisankaran, Sindhuja, Arora, Amandeep S., Soukup, Sandra-Fausia, Vidal, Ramon, Capece, Vincenzo, Freytag, Siona, Fischer, Andre, Verstreken, Patrik, Bonn, Stefan, Raimundo, Nuno, Milosevic, Ira

المصدر: Cell Reports, Vol 17, Iss 4, Pp 1071-1086 (2016)
Cell reports 17(4), 1071-1086 (2016). doi:10.1016/j.celrep.2016.09.058
Cell Reports

مصطلحات موضوعية: Male, Aging, genetics [SKP Cullin F-Box Protein Ligases], Transcription, Genetic, Muscle Proteins, Apoptosis, metabolism [Hippocampus], genetics [Muscle Proteins], Hippocampus, pathology [Ataxia], metabolism [Forkhead Box Protein O3], genetics [Homeostasis], Mice, pathology [Aging], genetics [Parkinson Disease], metabolism [Ubiquitin], complications [Movement Disorders], Fbxo32 protein, mouse, Homeostasis, lcsh:QH301-705.5, Mice, Knockout, protein homeostasis, Movement Disorders, Forkhead Box Protein O3, neurodegeneration, Brain, pathology [Nerve Degeneration], Parkinson Disease, genetics [Ataxia], metabolism [Autophagosomes], Up-Regulation, metabolism [Acyltransferases], Protein Binding, Proteasome Endopeptidase Complex, autophagy, metabolism [Muscle Proteins], FBXO32 protein, human, genetics [Mutation], Article, FBXO32, endophilin, Autophagy, deficiency [Acyltransferases], Animals, Humans, endocytosis, FoxO3 protein, mouse, ddc:610, metabolism [Proteasome Endopeptidase Complex], SKP Cullin F-Box Protein Ligases, Endophilin-A, Ubiquitin-Proteasome System, Ubiquitin, ataxia, Autophagosomes, metabolism [SKP Cullin F-Box Protein Ligases], pathology [Movement Disorders], pathology [Parkinson Disease], complications [Nerve Degeneration], pathology [Hippocampus], lcsh:Biology (General), metabolism [Brain], Mutation, Nerve Degeneration, Parkinson’s disease, genetics [Forkhead Box Protein O3], 2-acylglycerophosphate acyltransferase, next-generation sequencing, ubiquitin-proteasome system, Acyltransferases, HeLa Cells

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4f5b2fbe8ae6600dff8e31462cab31a7
http://resolver.sub.uni-goettingen.de/purl?gs-1/13844

4

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

المصدر: The journal of clinical investigation
The Journal of clinical investigation 122 (2012): 538–544. doi:10.1172/JCI60560
info:cnr-pdr/source/autori:Montenegro G.; Rebelo A.P., Connell J.; Allison R.; Babalini C.; D'Aloia M.; Montieri P.; Schüle R.; Ishiura H.; Price J.; Strickland A.; Gonzalez M.A.; Baumbach-Reardon L.; Deconinck T.; Huang J.; Bernardi G.; Vance J.M.; Rogers M.T.; Tsuji S.; De Jonghe P.; Pericak-Vance M.A.; Schöls L.; Orlacchio A.; Reid E.; Züchner S./titolo:Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12/doi:10.1172%2FJCI60560/rivista:The Journal of clinical investigation/anno:2012/pagina_da:538/pagina_a:544/intervallo_pagine:538–544/volume:122
The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560

مصطلحات موضوعية: pathology [Spastic Paraplegia, Hereditary], Spastin, Settore MED/09 - Medicina Interna, DNA Mutational Analysis, Muscle Proteins, genetics [Muscle Proteins], Endoplasmic Reticulum, medicine.disease_cause, metabolism [Endoplasmic Reticulum], Spastic Paraplegia, genetics [Nerve Tissue Proteins], Exome sequencing, Adenosine Triphosphatases, Genetics, Mutation, Medicine (all), General Medicine, genetics [Adenosine Triphosphatases], genetics [Membrane Proteins], Hereditary, Research Article, Hereditary spastic paraplegia, ultrastructure [Endoplasmic Reticulum], metabolism [Muscle Proteins], Nerve Tissue Proteins, Biology, HeLa Cells, Humans, HEK293 Cells, Spastic Paraplegia, Hereditary, Membrane Proteins, Frameshift mutation, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], RTN2 protein, human, SPAST protein, human, medicine, ddc:610, Gene, metabolism [Nerve Tissue Proteins], medicine.disease, Membrane protein, Reticulon, Human medicine, metabolism [Adenosine Triphosphatases], metabolism [Membrane Proteins]

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79adc26c3da7a07c507da53f4135f3af
https://doi.org/10.1172/jci60560

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5

Cardiac arrhythmia induced by genetic silencing of 'funny' (f) channels is rescued by GIRK4 inactivation

المساهمون: Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Experimental Neuropediatrics, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Department of Cellular and Integrative Physiology, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Center for Experimental Medicine, Department of Experimental Pharmacology and Toxicology, Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Cardiovascular Research Center Hamburg (CVRC), University Hamburg, Department of Pharmacology, University of Minnesota [Twin Cities] (UMN), University of Minnesota System-University of Minnesota System, Université Montpellier 1 (UM1)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Nature Communications 5(1), 4664 (2014). doi:10.1038/ncomms5664
Nature Communications
Nature Communications, Nature Publishing Group, 2014, 5, pp.4664. ⟨10.1038/ncomms5664⟩
Nature communications
Nature Communications, 2014, 5, pp.4664. ⟨10.1038/ncomms5664⟩

مصطلحات موضوعية: Male, Patch-Clamp Techniques, Potassium Channels, sinoatrial node, Xenopus, General Physics and Astronomy, Muscle Proteins, 030204 cardiovascular system & hematology, genetics [Muscle Proteins], physiology [Oocytes], Mice, 0302 clinical medicine, Kcnj5 protein, mouse, Heart Rate, Pregnancy, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Myocytes, Cardiac, Ivabradine, ComputingMilieux_MISCELLANEOUS, Calcium signaling, pathology [Myocytes, Cardiac], 0303 health sciences, Multidisciplinary, genetics [Potassium Channels], ion channels, pharmacology [Benzazepines], drug therapy [Arrhythmias, Cardiac], genetics [G Protein-Coupled Inwardly-Rectifying Potassium Channels], metabolism [Potassium Channels], Potassium channel, 3. Good health, HCN4 protein, human, medicine.anatomical_structure, Female, ddc:500, drug effects [Heart Rate], medicine.drug, medicine.medical_specialty, pacemaker activity, metabolism [Muscle Proteins], Mice, Transgenic, Biology, arrhythmia, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, genetics [Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels], Internal medicine, Heart rate, medicine, metabolism [G Protein-Coupled Inwardly-Rectifying Potassium Channels], Gene silencing, Animals, Humans, Calcium Signaling, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, physiopathology [Arrhythmias, Cardiac], Sinoatrial node, Cardiac arrhythmia, Arrhythmias, Cardiac, General Chemistry, Benzazepines, electrophysiology, Mice, Inbred C57BL, Autonomic nervous system, Disease Models, Animal, Endocrinology, genetics [Arrhythmias, Cardiac], metabolism [Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels], G Protein-Coupled Inwardly-Rectifying Potassium Channels, Oocytes, metabolism [Myocytes, Cardiac], genetics [Calcium Signaling], Neuroscience