Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by pontocerebellar hypoplasia and apnoea, we discovered a missense mutation...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Brain
Main Authors: Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockhart, Paul J., Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Koehler, Carla M., Jen, Joanna C.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2016
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5840878/
https://ncbi.nlm.nih.gov/pubmed/27543974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww212
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki