Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats

Abstract Background N-glycanase 1 (NGLY1) Deficiency is an ultra-rare autosomal recessive disorder of deglycosylation caused by loss-of-function mutations in the NGLY1 gene. Patients present with developmental delay, intellectual disability, hyperkinetic movement disorder, elevated liver enzymes, (h...

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Hlavní autoři:	Lei Zhu, Selina Dwight, William F. Mueller, Becky Schweighardt
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2026-02-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	NGLY1 NGLY1 Deficiency Rare diseases Motor function CNS Mortality
On-line přístup:	https://doi.org/10.1186/s13023-026-04261-1
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