Cargando…

Generation and characterization of NGLY1 patient-derived midbrain organoids

NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global developmental delay, motor disorder and live...

Descripción completa

Detalles Bibliográficos
Autores principales: Abbott, Joshua, Tambe, Mitali, Pavlinov, Ivan, Farkhondeh, Atena, Nguyen, Ha Nam, Xu, Miao, Pradhan, Manisha, York, Tate, Might, Matthew, Baumgärtel, Karsten, Rodems, Steven, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978932/
https://www.ncbi.nlm.nih.gov/pubmed/36875753
http://dx.doi.org/10.3389/fcell.2023.1039182