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Ngly1 (−/−) rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems
N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological phenotypes. Because of few animal models that recapitu...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7322575/ https://ncbi.nlm.nih.gov/pubmed/32259258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa059 |
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