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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Vydáno v:Hum Mol Genet
Hlavní autoři: Owings, Katie G, Lowry, Joshua B, Bi, Yiling, Might, Matthew, Chow, Clement Y
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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On-line přístup: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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