Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations

Significant clinical symptoms of Cohen syndrome (CS), a rare autosomal recessive disorder, include intellectual disability, facial dysmorphism, postnatal microcephaly, retinal dystrophy, and intermittent neutropenia. CS has been associated with mutations in the VPS13B (vacuolar protein sorting 13 ho...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, You-Kyung, Lee, Soo-Kyeong, Choi, Suin, Huh, Yang Hoon, Kwak, Ji-Hye, Lee, Yong-Seok, Jang, Deok-Jin, Lee, Jae-Hyung, Lee, Kyungmin, Kaang, Bong-Kiun, Lim, Chae-Seok, Lee, Jin-A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Micro Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203861/
https://www.ncbi.nlm.nih.gov/pubmed/32375900
http://dx.doi.org/10.1186/s13041-020-00611-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203861/
https://www.ncbi.nlm.nih.gov/pubmed/32375900
http://dx.doi.org/10.1186/s13041-020-00611-7

Ejemplares similares