Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

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 d...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078978/
https://www.ncbi.nlm.nih.gov/pubmed/31957011
http://dx.doi.org/10.1111/cge.13706

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