Search Results - "Wu, Beverly P"
-
1
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations
Published in Human molecular genetics (03-06-2020)“…Abstract Dominant mutations in the mitochondrial paralogs coiled-helix-coiled-helix (CHCHD) domain 2 (C2) and CHCHD10 (C10) were recently identified as causing…”
Get full text
Journal Article -
2
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10
Published in Human molecular genetics (15-11-2018)“…Abstract Mutations in paralogous mitochondrial proteins CHCHD2 and CHCHD10 cause autosomal dominant Parkinson Disease (PD) and Amyotrophic Lateral…”
Get full text
Journal Article -
3
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy
Published in The Journal of clinical investigation (15-07-2022)“…Mitochondrial stress triggers a response in the cell's mitochondria and nucleus, but how these stress responses are coordinated in vivo is poorly understood…”
Get full text
Journal Article -
4
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease
Published in Brain (London, England : 1878) (30-06-2022)“…PRKN mutations are the most common recessive cause of Parkinson's disease and are a promising target for gene and cell replacement therapies. Identification of…”
Get full text
Journal Article -
5
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10
Published in Human molecular genetics (15-01-2019)Get full text
Journal Article