المؤلفون: Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin

المصدر: PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4373692?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10

المؤلفون: Adrian Flierl, Luís M A Oliveira, Lisandro J Falomir-Lockhart, Sally K Mak, Jayne Hesley, Frank Soldner, Donna J Arndt-Jovin, Rudolf Jaenisch, J William Langston, Thomas M Jovin, Birgitt Schüle

المصدر: PLoS ONE, Vol 9, Iss 11, p e112413 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4229205?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/7cda156829f54c49963973520846983a

المؤلفون: Adrian Flierl, Samuel E. Schriner, Saege Hancock, Pinar E. Coskun, Douglas C. Wallace

المصدر: Free Radical Biology and Medicine. 188:312-327

مصطلحات موضوعية: Mice, Adenine Nucleotides, Mitochondrial Permeability Transition Pore, Physiology (medical), Animals, Adenine Nucleotide Translocator 2, Muscle Development, Mitochondrial Membrane Transport Proteins, Biochemistry, Mitochondria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3edff1e0cb614e9641fdf7b1f213e6ae
https://doi.org/10.1016/j.freeradbiomed.2022.05.022

المؤلفون: Khanh-Dung H. Nguyen, Chao Sun, Adrian Flierl, James W. Tetrud, Faria Zafar, Birgitt Schüle, Mei Liu, J. William Langston, Kelsey Lee, Jimmy Saetern, Dennis W. Dickson

المصدر: Journal of Parkinson's Disease. 8:93-100

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Parkinson's disease, Mutation, Missense, tau Proteins, Neuropathology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Progressive supranuclear palsy, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Atrophy, medicine, Humans, Point Mutation, Missense mutation, Brain Chemistry, Neurons, Alpha-synuclein, Lewy body, business.industry, Brain, Sequence Analysis, DNA, Middle Aged, Multiple System Atrophy, medicine.disease, LRRK2, Pedigree, nervous system diseases, 030104 developmental biology, chemistry, alpha-Synuclein, Female, Neurology (clinical), business, Neuroglia, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9905cd3ca0c5c352f063ee5fcacfd0e
https://doi.org/10.3233/jpd-171237

المؤلفون: Doo Soon Im, Xianjun Dong, Patrizia Rizzu, Ming Jin, Yang Kevin Xiang, Peter Heutink, Trond Riise, Birgitt Schüle, Elizabeth Long, Marcie A. Glicksman, Dennis J. Selkoe, Clemens R. Scherzer, Bing Xu, Tim Bartels, Kristine M. Abo, Jean-Christophe Rochet, Barbara J. Caldarone, Joseph J. Locascio, Shuchi Mittal, David S. Park, Adrian Flierl, Anders Engeland, Vikram Khurana, Kjetil Bjornevik

المصدر: Science / Science now 357(6354), 891-898 (2017). doi:10.1126/science.aaf3934

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, metabolism [Histones], Transcription, Genetic, genetics [Receptors, Adrenergic, beta-2], Regulator, pharmacology [Propranolol], drug effects [Gene Expression Regulation], Bioinformatics, Ligands, Histones, chemistry.chemical_compound, Mice, 0302 clinical medicine, pharmacology [Adrenergic beta-1 Receptor Agonists], genetics [Parkinson Disease], metabolism [Receptors, Adrenergic, beta-2], Promoter Regions, Genetic, therapeutic use [Propranolol], Regulation of gene expression, Multidisciplinary, biology, Norway, Parkinson Disease, Acetylation, Propranolol, Substantia Nigra, Histone, Enhancer Elements, Genetic, Neuroprotective Agents, Adrenergic beta-1 Receptor Agonists, pharmacology [Albuterol], genetics [alpha-Synuclein], alpha-Synuclein, drug effects [Transcription, Genetic], Agonist, Risk, medicine.drug_class, Adrenergic beta-Antagonists, pharmacology [Adrenergic beta-Antagonists], therapeutic use [Adrenergic beta-Antagonists], Article, 03 medical and health sciences, Cell Line, Tumor, medicine, metabolism [Substantia Nigra], Animals, Humans, Albuterol, ethnology [Norway], SNCA protein, human, Enhancer, Gene, Alpha-synuclein, pharmacology [Neuroprotective Agents], medicine.disease, drug therapy [Parkinson Disease], 030104 developmental biology, Gene Expression Regulation, chemistry, ddc:320, biology.protein, Cancer research, Receptors, Adrenergic, beta-2, 030217 neurology & neurosurgery, therapeutic use [Albuterol], ethnology [Parkinson Disease]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f215baa1933ff9c438ae9be5a0d56a2

المؤلفون: Jason E. Kokoszka, Alessia Angelin, Grant R. MacGregor, Katrina G. Waymire, Katelyn Sweeney, Adrian Flierl, Douglas C. Wallace

المصدر: Biochimica et biophysica acta, vol 1857, iss 8

مصطلحات موضوعية: 0301 basic medicine, Male, Organogenesis, Mitochondrion, Lethal, Biochemistry, Transgenic, Exon, Mice, Congenital, Myocytes, Cardiac, Developmental, Heart Defects, biology, Adenine nucleotide translocator, Gene Expression Regulation, Developmental, Heart, Biological Sciences, Null allele, Mitochondria, Phenotype, Embryo, Physical Sciences, Female, Cardiac, Heart Defects, Congenital, Gene isoform, Cardiomyopathy, Heart Ventricles, Biophysics, Cre recombinase, Mice, Transgenic, Hypertrabeculation, Article, 03 medical and health sciences, Animals, Noncompaction, Gene, Cell Proliferation, Heart Failure, Myocytes, Integrases, Adenine, Mammalian, Adenine Nucleotide Translocator 2, Biological Transport, Cell Biology, Embryo, Mammalian, Molecular biology, 030104 developmental biology, Mitochondrial permeability transition pore, Gene Expression Regulation, Genes, biology.protein, Genes, Lethal, Mitochondrial Swelling

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89acee06634d92622edb691fe8c4a490
https://escholarship.org/uc/item/20p2c6x0

المؤلفون: Saima Riazuddin, Zubair M. Ahmed, Anke Busch, Doris K. Wu, Richard Chang, Eddie Park, Vincent Huang, Xinjian Wang, Nada Al-Sheqaih, Arnold Starr, Sarah E. Mahl, Catherine Florentz, William G. Newman, Mariella Simon, Min-Xin Guan, Hagen Schwenzer, Thomas Dorn, Taosheng Huang, Antonio Davila, Prasanth Potluri, Sabiha Nazli, Ronghua Li, Elodie Richard, Tanveer A. Qaiser, Jose E. Abdenur, Vincent Procaccio, Jie Wu, Thomas B. Friedman, Sheikh Riazuddin, Rashmi S. Hegde, Douglas C. Wallace, Margret Yu, Adrian Flierl, Mohsin Shahzad, Saege Hancock, Marie Sissler, Jay Gargus, Shaheen N. Khan

المساهمون: Centre National de la Recherche Scientifique (CNRS)

المصدر: PLoS Genetics
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005097. ⟨10.1371/journal.pgen.1005097⟩
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Simon, M; Richard, EM; Wang, X; Shahzad, M; Huang, VH; Qaiser, TA; et al.(2015). Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome. PLoS Genetics, 11(3). doi: 10.1371/journal.pgen.1005097. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2dt5r3jw

مصطلحات موضوعية: Male, Cancer Research, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, Gene Expression, Deafness, RNA, Transfer, Amino Acyl, Compound heterozygosity, medicine.disease_cause, Mice, 0302 clinical medicine, Mutant protein, Missense mutation, Nonsyndromic deafness, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Mutation, Asparaginyl-tRNA synthetase, Middle Aged, Mitochondria, Pedigree, Mitochondrial respiratory chain, Molecular Medicine, Female, Leigh Disease, medicine.symptom, Research Article, Adult, lcsh:QH426-470, Hearing loss, Mutation, Missense, Biology, 03 medical and health sciences, Oxygen Consumption, medicine, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Leigh disease, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Cell Biology, Fibroblasts, medicine.disease, Molecular biology, lcsh:Genetics, Ear, Inner, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae37166b1c7fa36b3f138be299e354dd
https://hal.archives-ouvertes.fr/hal-03365841

المؤلفون: B Cottrell, Charles E. Jackson, D Murdock, Douglas C. Wallace, Peter Seibel, Adrian Flierl

المصدر: Molecular Therapy. 7(4):550-557

مصطلحات موضوعية: Peptide Nucleic Acids, Target peptide, Protein Sorting Signals, Mitochondrion, Biology, medicine.disease_cause, Myoblasts, Mice, chemistry.chemical_compound, Bacterial Proteins, Protein targeting, Drug Discovery, medicine, Genetics, Animals, Polyethyleneimine, Inner membrane, Molecular Biology, Pharmacology, Peptide nucleic acid, Oligonucleotide, Biological Transport, Mitochondria, Cell biology, Cytosol, Microscopy, Fluorescence, Oligodeoxyribonucleotides, Biochemistry, chemistry, Streptolysins, Nucleic acid, Molecular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34656eb1ee53ab7c6e185656648a331d

المؤلفون: Peter Seibel, Adrian Flierl, Heinz Reichmann

المصدر: Journal of Biological Chemistry. 272:27189-27196

مصطلحات موضوعية: Herpesvirus 4, Human, Mitochondrial DNA, RNA, Transfer, Leu, Macromolecular Substances, Mitochondrial translation, Protein subunit, Citrate (si)-Synthase, Mitochondrion, Biology, medicine.disease_cause, DNA, Mitochondrial, Polymerase Chain Reaction, Biochemistry, Oxidative Phosphorylation, Electron Transport Complex IV, Reference Values, MELAS Syndrome, medicine, Humans, Molecular Biology, Gene, Cell Line, Transformed, DNA Primers, chemistry.chemical_classification, B-Lymphocytes, Mutation, Base Sequence, NADH Dehydrogenase, Cell Biology, Molecular biology, Mitochondria, Amino acid, Succinate Dehydrogenase, Kinetics, chemistry, Protein Biosynthesis, Succinate Cytochrome c Oxidoreductase, Leucine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3edd22fa5c68b286895e9f43219755c
https://doi.org/10.1074/jbc.272.43.27189

المؤلفون: Adrian Flierl, Thomas M. Jovin, Luís M. A. Oliveira, Lisandro J. Falomir-Lockhart, Frank Soldner, Jayne Hesley, J. William Langston, Rudolf Jaenisch, Sally K. Mak, Donna J. Arndt-Jovin, Birgitt Schüle

المساهمون: Massachusetts Institute of Technology. Department of Biology, Whitehead Institute for Biomedical Research, Jaenisch, Rudolf, Soldner, Frank

المصدر: Public Library of Science
PLoS ONE
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
PLoS One
PLoS ONE, Vol 9, Iss 11, p e112413 (2014)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: Male, Parkinson's disease, Cellular differentiation, Biología, lcsh:Medicine, Apoptosis, Biochemistry, purl.org/becyt/ford/1 [https], Neural Stem Cells, Animal Cells, Gene Duplication, Molecular Cell Biology, Medicine and Health Sciences, oxidative stress, OXIDATIVE STRESS, RNA, Small Interfering, lcsh:Science, Induced pluripotent stem cell, Cells, Cultured, Cellular Senescence, Genetics, Regulation of gene expression, Membrane Potential, Mitochondrial, Gene knockdown, Multidisciplinary, Movement Disorders, Stem Cells, Neurodegeneration, Neurochemistry, Neurodegenerative Diseases, Parkinson Disease, Cell Differentiation, α-synuclein triplocation, Cell biology, Mitochondria, Substantia Nigra, Neurology, alpha-Synuclein, Female, Stem cell, Cellular Types, METABOLIC IMPAREMENT, CIENCIAS NATURALES Y EXACTAS, ALPHA-SYNUCLEIN TRIPLOCATION, Research Article, Cell Survival, Medicina, Otras Ciencias Biológicas, Neurogenesis, Induced Pluripotent Stem Cells, Biology, Neuroprotection, metabolic imparement, Ciencias Biológicas, Developmental Neuroscience, medicine, Humans, purl.org/becyt/ford/1.6 [https], lcsh:R, PARKINSON´S DISEASE, Biology and Life Sciences, Cell Biology, Hydrogen Peroxide, medicine.disease, Staurosporine, Culture Media, Glucose, Gene Expression Regulation, Cellular Neuroscience, Genetics of Disease, lcsh:Q, Energy Metabolism, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8487849078cdfa80b47dd0c42a700c1
http://hdl.handle.net/1721.1/92476