المؤلفون: Zhang, Danyun, Dailey, Owen, Simon, Daniel, Roca-Datzer, Kamilah, Jami-Alahmadi, Yasaman, Hennen, Mikayla, Wohlschlegel, James, Koehler, Carla, Dabir, Deepa

المصدر: Journal of Biological Chemistry. 297(4)

مصطلحات موضوعية: disulfide, mitochondria, mitochondrial transport, protein import, redox regulation, thiol, thioredoxin, Electron Transport Complex IV, Ferredoxins, Membrane Transport Proteins, Mitochondrial Membrane Transport Proteins, Mitochondrial Precursor Protein Import Complex Proteins, Mitochondrial Proteins, Mutation, Nuclear Proteins, Oxidation-Reduction, Oxidoreductases Acting on Sulfur Group Donors, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39c3933xTest

المؤلفون: Wan, Yao, Hopper, Anita K

المصدر: Genes & Development. 32(19-20)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Cell Respiration, Endoribonucleases, Membrane Proteins, Mitochondria, Mitochondrial Membrane Transport Proteins, Mitochondrial Precursor Protein Import Complex Proteins, Mutation, Protein Subunits, RNA Splicing, RNA Transport, RNA, Transfer, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Schizosaccharomyces, Schizosaccharomyces pombe Proteins, RNA processing on the mitochondrial surface, Sam37, Tom70, tRNA splicing endonuclease, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences, Psychology

الوصول الحر: https://escholarship.org/uc/item/8jk6f3psTest

المؤلفون: Idica, Adam, Sevrioukov, Evgueni A, Zisoulis, Dimitrios G, Hamdorf, Matthias, Daugaard, Iben, Kadandale, Pavan, Pedersen, Irene M

المصدر: Journal of Biological Chemistry. 292(50)

مصطلحات موضوعية: Biological Sciences, Medicinal and Biomolecular Chemistry, Chemical Sciences, Genetics, Stem Cell Research - Nonembryonic - Human, Biotechnology, Stem Cell Research, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, 3' Untranslated Regions, Amino Acid Substitution, Argonaute Proteins, Biological Transport, Computational Biology, Down-Regulation, Gene Expression Regulation, Genes, Reporter, HeLa Cells, Humans, Immunoprecipitation, Long Interspersed Nucleotide Elements, MicroRNAs, Mutagenesis, Site-Directed, Mutation, RNA Interference, RNA, Messenger, RNA, Small Interfering, Recombinant Proteins, beta Karyopherins, genomic instability, inhibitor, microRNA, microRNA mechanism, nuclear transport, LINE-1, miR-128, nuclear import, mobile elements, miR, restriction, TNPO1, retrotransposition, Hela Cells, restriction, TNPO1, retrotransposition, Medical and Health Sciences, Biochemistry & Molecular Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8082987fTest

المؤلفون: Neal, Sonya E, Dabir, Deepa V, Tienson, Heather L, Horn, Darryl M, Glaeser, Kathrin, Ogozalek Loo, Rachel R, Barrientos, Antoni, Koehler, Carla M

المصدر: Journal of Biological Chemistry. 290(34)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Ascorbic Acid, Disulfides, Electrons, Gene Expression Regulation, Fungal, Glutathione, Metallochaperones, Mitochondria, Mitochondrial Membrane Transport Proteins, Mitochondrial Precursor Protein Import Complex Proteins, Mitochondrial Proteins, Mutation, Oxidation-Reduction, Oxidoreductases Acting on Sulfur Group Donors, Plasmids, Protein Transport, Recombinant Proteins, Reducing Agents, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Signal Transduction, disulfide, mitochondria, oxidation-reduction, protein import, redox, redox regulation, thiol, Chemical Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3vv9k4pnTest

المؤلفون: Ma, Kai Yu, Fokkens, Michiel R, Reggiori, Fulvio, Mari, Muriel, Verbeek, Dineke S

المصدر: Ma , K Y , Fokkens , M R , Reggiori , F , Mari , M & Verbeek , D S 2021 , ' Parkinson's disease-associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy ' , Translational neurodegeneration , vol. 10 , no. 1 , 19 . https://doi.org/10.1186/s40035-021-00243-4Test

مصطلحات موضوعية: VPS35, PINK1, Parkin, Mitophagy, Mitochondrial membrane potential, Parkinson's disease, RETROMER COMPLEX, MUTATION, DYSFUNCTION, MECHANISMS, AUTOPHAGY, NEURONS, IMPORT, KINASE, ARCHITECTURE

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/b5b28822-1c35-4298-83c0-ffb579be70f0Test

الإتاحة: https://doi.org/10.1186/s40035-021-00243-4Test
https://hdl.handle.net/11370/b5b28822-1c35-4298-83c0-ffb579be70f0Test
https://research.rug.nl/en/publications/b5b28822-1c35-4298-83c0-ffb579be70f0Test
https://pure.rug.nl/ws/files/173786794/Parkinson_s_disease_associated_VPS35_mutant_reduces_mitochondrial_membrane_potential_and_impairs_PINK1_Parkin_mediated_mitophagy.pdfTest

المؤلفون: Gusic, M., Schottmann, G., Feichtinger, R.G., Du, C., Scholz, C., Wagner, M., Mayr, J.A., Lee, C.Y., Yépez, V.A., Lorenz, N., Morales-Gonzalez, S., Panneman, D.M., Rötig, A., Rodenburg, R.J.T., Wortmann, S.B., Prokisch, H., Schuelke, M.

المصدر: Am. J. Hum. Genet. 106, 102-111 (2020)

مصطلحات موضوعية: Alopecia, Cardiomyopathy, Microscale Respiratory, Mitochondrial Complex Iii Deficiency, Mitochondrial Import Sequence, Mitochondriopathy, Mutation, Q-cycle, Rieske Iron-sulfur Protein

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000505170800008; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57737Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.12.005Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57737Test

المؤلفون: Hwang, David K, Claypool, Steven M, Leuenberger, Danielle, Tienson, Heather L, Koehler, Carla M

المصدر: Journal of Cell Biology. 178(7)

مصطلحات موضوعية: 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, ATP-Dependent Proteases, Adenosine Triphosphatases, DNA, Mitochondrial, Gene Expression, Glucose, Membrane Transport Proteins, Microbial Viability, Mitochondria, Mitochondrial Membrane Transport Proteins, Mitochondrial Membranes, Mitochondrial Precursor Protein Import Complex Proteins, Models, Biological, Mutation, Protein Binding, Protein Processing, Post-Translational, Protein Transport, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1nc395w5Test

المؤلفون: Reyes, Aurelio, Melchionda, Laura, Burlina, Alberto, Robinson, Alan J, Ghezzi, Daniele, Zeviani, Massimo

مصطلحات موضوعية: OxPhos, TIMM50, bioenergetic dysfunction, mitochondrial import, Brain Diseases, Cell Survival, Cells, Cultured, Female, Fibroblasts, Genetic Complementation Test, Humans, Infant, Italy, Membrane Transport Proteins, Mitochondrial Diseases, Mitochondrial Precursor Protein Import Complex Proteins, Mutation, Oxidative Phosphorylation

وصف الملف: Print; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/285390Test

الإتاحة: https://doi.org/10.17863/CAM.32756Test
https://www.repository.cam.ac.uk/handle/1810/285390Test

المؤلفون: David A. Koolen, Yue Si, Benjamin Cogné, Pamela Trapane, Eric W. Klee, Manju A. Kurian, Miel Theunis, Eva Morava, Shekeeb S. Mohammad, Oguz Kanca, Matthew J. Moulton, Paulien A Terhal, Peggy Kulch, Queenie K.-G. Tan, An-Chi Tien, Shenzhao Lu, Erica L. Macke, Hugo J. Bellen, Katy Barwick, Bryan E. Hainline, Russell C. Dale, Lindsey D. Goodman, Katherine Sapp, Hermine E. Veenstra-Knol, Eric Legius, Amber Begtrup, Dora Steel, D. Dutta, Victoria H. Klee, Christopher J. Spencer, Bethany Robinette, Ellen van Binsbergen, Michael F. Wangler, Laurence E. Walsh, Shinya Yamamoto, Thomas A. Ravenscroft, Brian Kirmse, Bertrand Isidor, Marijke R. Wevers, Zelha Nil, Heidi Cope, Theresa A. Grebe, Melissa Jones, Wu Lin Charng, Rolph Pfundt, Jolien S. Klein Wassink-Ruiter, Charlotte A. Haaxma

المصدر: Am J Hum Genet
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691

مصطلحات موضوعية: Male, Developmental Disabilities, Gene Dosage, DE-NOVO, medicine.disease_cause, NUCLEAR-IMPORT, Drosophila Proteins, Global developmental delay, RNA, Small Interfering, Genetics (clinical), Neurons, Genetics, Mutation, Gene Expression Regulation, Developmental, Eye Diseases, Hereditary, GAL4 SYSTEM, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], beta Karyopherins, Phenotype, Drosophila melanogaster, Essential gene, Female, Beta Karyopherins, Drosophila Protein, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, C-FOS, PROTEINS, Karyopherins, Biology, Article, All institutes and research themes of the Radboud University Medical Center, Intellectual Disability, medicine, Animals, Humans, Amino Acid Sequence, Alleles, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, Sequence Homology, Amino Acid, Whole Genome Sequencing, Genome, Human, MUTATIONS, Infant, Newborn, Infant, biology.organism_classification, MUSHROOM BODY, TRANSPORTIN, Musculoskeletal Abnormalities, ran GTP-Binding Protein, Ectopic expression, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0eefbb5baf3b41c35fc11bfd9840b3Test
https://doi.org/10.1016/j.ajhg.2021.06.019Test

المؤلفون: David R. Thorburn, Yilin Kang, Kenji M Fujihara, Catherine S Palmer, Yau C Low, Ann E. Frazier, Nicholas J. Clemons, Daniella H Hock, David A. Stroud, Thomas Daniel Jackson, Diana Stojanovski, Ching-Seng Ang

المصدر: Molecular Biology of the Cell

مصطلحات موضوعية: Proteomics, Protein subunit, Primary Cell Culture, Cell Culture Techniques, Mitochondrion, Mitochondrial Membrane Transport Proteins, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial membrane transport protein, 0302 clinical medicine, Mitochondrial Precursor Protein Import Complex Proteins, Humans, Inner mitochondrial membrane, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, Membrane transport protein, Membrane Proteins, Membrane Transport Proteins, Articles, Cell Biology, Carbon, Mitochondria, Cell biology, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Membrane protein, Mitochondrial Membranes, Mutation, MCF-7 Cells, biology.protein, Carrier Proteins, Acylglycerol kinase, 030217 neurology & neurosurgery, Biogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccccafba6ad7a0d2d6f285b01db97d16Test
https://doi.org/10.1091/mbc.e20-06-0390Test