The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417
- Collier, Jack J
- Guissart, Claire
- Oláhová, Monika
- Sasorith, Souphatta
- Piron-Prunier, Florence
- Suomi, Fumi
- Zhang, David
- Martinez-Lopez, Nuria
- Leboucq, Nicolas
- Bahr, Angela
- Azzarello-Burri, Silvia
- Reich, Selina
- Schöls, Ludger
- Polvikoski, Tuomo M
- Meyer, Pierre
- Larrieu, Lise
- Schaefer, Andrew M
- Alsaif, Hessa S
- Alyamani, Suad
- Zuchner, Stephan
- Barbosa, Inês A
- Deshpande, Charu
- Pyle, Angela
- Rauch, Anita
- Synofzik, Matthis
- Alkuraya, Fowzan S
- Rivier, François
- Ryten, Mina
- McFarland, Robert
- Delahodde, Agnès
- McWilliams, Thomas G
- Koenig, Michel
- Taylor, Robert W
2021
Volltextzugriff (PDF)
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- Autor(en) / Beteiligte
- Collier, Jack J
- Guissart, Claire
- Oláhová, Monika
- Sasorith, Souphatta
- Piron-Prunier, Florence
- Suomi, Fumi
- Zhang, David
- Martinez-Lopez, Nuria
- Leboucq, Nicolas
- Bahr, Angela
- Azzarello-Burri, Silvia
- Reich, Selina
- Schöls, Ludger
- Polvikoski, Tuomo M
- Meyer, Pierre
- Larrieu, Lise
- Schaefer, Andrew M
- Alsaif, Hessa S
- Alyamani, Suad
- Zuchner, Stephan
- Barbosa, Inês A
- Deshpande, Charu
- Pyle, Angela
- Rauch, Anita
- Synofzik, Matthis
- Alkuraya, Fowzan S
- Rivier, François
- Ryten, Mina
- McFarland, Robert
- Delahodde, Agnès
- McWilliams, Thomas G
- Koenig, Michel
- Taylor, Robert W
- Titel
- Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
- Ist Teil von
- The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417
- Ort / Verlag
- United States: Massachusetts Medical Society
- Erscheinungsjahr
- 2021
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- Autophagy is a cellular process through which toxic aggregates, pathogens, and damaged organelles are disposed of and essential metabolites recycled. This study challenges the belief that a core autophagy protein is indispensable.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-4793eISSN: 1533-4406DOI: 10.1056/NEJMoa1915722Titel-ID: cdi_proquest_journals_2552106830
- Format
- –
- Schlagworte
- Abnormalities, Multiple - genetics, Adolescent, Adult, Amino acids, Ataxia, Ataxia - genetics, Atrophy, Autophagy, Autophagy - genetics, Autophagy - physiology, Autophagy-Related Protein 7 - genetics, Autophagy-Related Protein 7 - physiology, Biopsy, Cells, Cultured, Cerebellum, Cerebellum - abnormalities, Complementation, Computer Simulation, Congenital diseases, Corpus callosum, Crystal structure, Developmental Disabilities - genetics, Embryo fibroblasts, Enzymes, Face - abnormalities, Families & family life, Female, Fibroblasts, Genes, Recessive, Genetic analysis, Genetics, Genetics General, Humans, Image processing, Infant, Kinases, Lethality, Magnetic resonance imaging, Male, Mammalian cells, Mammals, Medical imaging, Mitochondria, Muscle, Skeletal - metabolism, Muscle, Skeletal - pathology, Mutation, Missense, Nervous System Malformations - genetics, Neurodegeneration, Neurodevelopmental disorders, Neuroimaging, Neurology, Neurosurgery, Neurosurgery General, Patients, Pedigree, Phagocytosis, Phenotype, Proteins, Siblings, Skeletal muscle, Strabismus