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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: 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.2017.07.009مصطلحات 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
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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 Reportsمصطلحات 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 -
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المؤلفون: Alleene V. Strickland, Michela D’Aloia, Michael A. Gonzalez, Jia Huang, Mark T. Rogers, James W. Connell, Ludger Schöls, Stephan Züchner, Hiroyuki Ishiura, Gladys Montenegro, Lisa Baumbach-Reardon, Shoji Tsuji, Jeffery M. Vance, Justin Price, Tine Deconinck, Margaret A. Pericak-Vance, Carla Babalini, Pasqua Montieri, Rachel Allison, Giorgio Bernardi, Rebecca Schüle, Adriana P. Rebelo, Antonio Orlacchio, Evan Reid, Peter De Jonghe
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/JCI60560مصطلحات 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
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المؤلفون: Anne Fernandez, Dirk Isbrandt, Matteo E. Mangoni, Heimo Ehmke, Jana Christina Müller, Stefan J. Dubel, Anika Seniuk, Pietro Mesirca, Laurine Marger, Jacqueline Alig, Isabelle Bidaud, Claire Marquilly, Thomas Eschenhagen, Angelo G. Torrente, Anne Vincent, Lucile Miquerol, Anne Rollin, Birgit Engeland, Jasmin Singh, Joël Nargeot, Kevin Wickman
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
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المؤلفون: Thomas W. Mühleisen, K. H. Jöckel, Peter P. Pramstaller, Thomas Meitinger, Aravinda Chakravarti, Silvia Naitza, Christine Happle, Christian Gieger, Mariano Dei, Ronald J. Prineas, Andrew A. Hicks, Maja Barbalić, Laura Crisponi, Georg B. Ehret, Man Li, Moritz F. Sinner, Benno Pütz, Siegfried Perz, Raimund Erbel, Cristian Pattaro, Eric Boerwinkle, Marco Orr, Manuela Uda, Martina Müller, Gianluca Usala, Gerhard Steinbeck, Samer S. Najjar, Dan E. Arking, Fabio Marroni, Serena Sanna, Stefan Möhlenkamp, Anna Köttgen, Christian Fuchsberger, Arne Pfeufer, Stefan Kääb, David Schlessinger, Josef Coresh, Edward G. Lakatta, H.-Erich Wichmann, W. H. Linda Kao, Angelo Scuteri, Bertram Müller-Myhsok, Gonçalo R. Abecasis, Vesela Gateva
المصدر: Nature Genetics, Vol. 41, No 4 (2009) pp. 407-414
مصطلحات موضوعية: Candidate gene, Potassium Channels, Sodium Channels/genetics, Muscle Proteins, Arrhythmias, Ion Channels, Sodium Channels, NAV1.5 Voltage-Gated Sodium Channel, Sudden cardiac death, Ether-A-Go-Go Potassium Channels/genetics, Electrocardiography, Arrhythmias, Cardiac/*genetics, ddc:616, Muscle Proteins/genetics, Genetics, education.field_of_study, Cardiac electrophysiology, Chromosome Mapping, Heart, Genetic Variation, Inwardly Rectifying, Electrophysiology, Electrophysiology/methods, Long QT Syndrome, KCNQ1 Potassium Channel, cardiovascular system, Cardiac, Long QT syndrome, Population, genetics, Chromosome Mapping, Electrocardiography, Electrophysiology, methods, Ether-A-Go-Go Potassium Channels, genetics, Genetic Variation, Heart, physiology/physiopathology, Humans, Ion Channels, genetics, KCNQ1 Potassium Channel, genetics, Long QT Syndrome, genetics, Muscle Proteins, genetics, NAV1.5 Voltage-Gated Sodium Channel, Potassium Channels, genetics, Reproducibility of Results, Sodium Channels, genetics, Locus (genetics), Biology, QT interval, methods, medicine, Humans, Repolarization, cardiovascular diseases, education, Reproducibility of Results, physiology/physiopathology, medicine.disease, Ether-A-Go-Go Potassium Channels, Long QT Syndrome/*genetics, Ion Channels/*genetics, Heart/physiology/physiopathology, Potassium Channels, Inwardly Rectifying/genetics, KCNQ1 Potassium Channel/genetics
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المؤلفون: Irene M. Mavridis, Matthias Wilmanns, Young-Hwa Song, Peijian Zou, Mathias Gautel, Olga Mayans, Stephan Lange, Alexander Popov, Nikos Pinotsis
المصدر: Nature
439, 233 (2006). doi:10.1038/nature04343 مصطلحات موضوعية: Models, Molecular, Sarcomeres, chemistry [Myocytes, Cardiac], Protein Conformation, metabolism [Muscle Proteins], Molecular Sequence Data, metabolism [Multiprotein Complexes], Muscle Proteins, Nanotechnology, Obscurin, chemistry [Protein Kinases], macromolecular substances, connectin, Telethonin, genetics [Muscle Proteins], chemistry [Sarcomeres], Crystallography, X-Ray, Ligands, Sarcomere, ddc:070, Protein filament, Protein structure, Fluorescence Resonance Energy Transfer, Animals, Connectin, Myocytes, Cardiac, chemistry [Multiprotein Complexes], Amino Acid Sequence, metabolism [Protein Kinases], Cytoskeleton, Multidisciplinary, biology, genetics [Protein Kinases], Genetic Complementation Test, Hydrogen Bonding, Rats, Förster resonance energy transfer, Animals, Newborn, Multiprotein Complexes, metabolism [Myocytes, Cardiac], biology.protein, Biophysics, telethonin protein, rat, Titin, Protein Kinases, metabolism [Sarcomeres], chemistry [Muscle Proteins], Protein Binding
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المؤلفون: Marina Scrobogna, Vincenzo Sorrentino, Sandra Mammarella, Giuseppe Giannini, Antonio Conti
المصدر: The Journal of Cell Biology
مصطلحات موضوعية: Male, chemistry/cytology, Transcription, Genetic, Messenger, isolation /&/ purification, Gene Expression, Muscle Proteins, Ryanodine receptor 2, Calcium in biology, Mice, Testis, genetics, Tissue Distribution, Cells, Cultured, In Situ Hybridization, Cultured, Voltage-dependent calcium channel, Ryanodine receptor, Ryanodine, Cell Differentiation, Articles, genetics/isolation /&/ purification, musculoskeletal system, Multigene Family, Animals, Base Sequence, Brain Chemistry, Calcium Channels, genetics/isolation /&/ purification, Cell Differentiation, Cells, Cultured, Gene Expression, Germ Cells, chemistry, Humans, In Situ Hybridization, Male, Mice, Molecular Sequence Data, Multigene Family, genetics, Muscle Proteins, genetics/isolation /&/ purification, Nerve Tissue Proteins, genetics/isolation /&/ purification, RNA, isolation /&/ purification, Ryanodine Receptor Calcium Release Channel, Ryanodine, metabolism, Testis, chemistry/cytology, Tissue Distribution, Transcription, Genetic, Transcription, tissues, Cells, Molecular Sequence Data, chemistry.chemical_element, Nerve Tissue Proteins, Calcium, Biology, chemistry, Animals, Humans, RNA, Messenger, RYR1, Brain Chemistry, Base Sequence, Calcium channel, T-type calcium channel, Ryanodine Receptor Calcium Release Channel, Cell Biology, Molecular biology, Germ Cells, RNA, Calcium Channels, metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::872dc3d7fc1fd5e79a481f04a69ae014
https://pubmed.ncbi.nlm.nih.gov/7876312 -
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المؤلفون: Mu Gao, Nikos Pinotsis, Klaus Schulten, Matthias Wilmanns, Eric H. Lee
المصدر: Structure 14, 509 (2006). doi:10.1016/j.str.2005.12.005
مصطلحات موضوعية: Models, Molecular, Sarcomeres, Protein Folding, metabolism [Muscle Proteins], HUMDISEASE, Muscle Proteins, Nanotechnology, chemistry [Protein Kinases], macromolecular substances, connectin, Telethonin, genetics [Muscle Proteins], chemistry [Sarcomeres], Protein Structure, Secondary, 03 medical and health sciences, Molecular dynamics, Structure-Activity Relationship, Structural Biology, ddc:570, Mechanical strength, Computer Simulation, Connectin, metabolism [Protein Kinases], Molecular Biology, 030304 developmental biology, 0303 health sciences, TCAP protein, human, Binding Sites, biology, Chemistry, 030302 biochemistry & molecular biology, Hydrogen Bonding, Mechanical force, Muscle stretch, Protein Structure, Tertiary, biology.protein, Biophysics, Titin, CELLBIO, Stress, Mechanical, Dimerization, Protein Kinases, chemistry [Muscle Proteins], Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2790ca53db8380e64c659981e361b7