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Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches
Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. NGLY1 is a conserved cytoplasmic component of the E...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886220/ https://ncbi.nlm.nih.gov/pubmed/29346549 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy026 |
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