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...

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Detalhes bibliográficos
Publicado no:Mol Brain
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Micro Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7203861/
https://ncbi.nlm.nih.gov/pubmed/32375900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-020-00611-7
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