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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322575/ https://www.ncbi.nlm.nih.gov/pubmed/32259258 http://dx.doi.org/10.1093/hmg/ddaa059 |