Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Clinical genetics - 1 Apr 2020
Panneman Daan M, Wortmann Saskia B, Haaxma Charlotte A, van Hasselt Peter M, Wolf Nicole I, Hendriks Yvonne, Küsters Benno, van Emst-de Vries Sjenet, van de Westerlo Els, Koopman Werner J H, Wintjes Liesbeth, van den Brandt Frans, de Vries Maaike, Lefeber Dirk J, Smeitink Jan A M, Rodenburg Richard J
Abstract excerpt
NGLY1 encodes the enzyme N-glycanase that is involved in the degradation of glycoproteins as part of the endoplasmatic reticulum-associated degradation pathway. Variants in this gene have been described to cause a multisystem disease characterized by neuromotor impairment, neuropathy, intellectual disability, and dysmorphic features. Here, we describe four patients with pathogenic variants in NGLY1. As the...
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