A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., Marcorelles, P., Theodorou, E., Lignelli‐Dipple, A., Voisset, C., Walker, M. A., Briere, L. C., Bourhis, A., Blondel, M., LeDuc, C., … Chung, W. K. (2022). A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Journal of Inherited Metabolic Disease, 45(5), 996–1012. Portico. https://doi.org/10.1002/jimd.12526
Authors:
Mythily Ganapathi
Gaelle Friocourt
Naig Gueguen
Marisa W Friederich
Gerald Le Gac
Volkan Okur
Nadège Loaëc
Thomas Ludwig
Chandran Ka
Kurenai Tanji
Pascale Marcorelles
Evangelos Theodorou
Angela Lignelli-Dipple
Cécile Voisset
Melissa A Walker
Lauren C Briere
Amélie Bourhis
Marc Blondel
Charles LeDuc
Jacob Hagen
Cathleen Cooper
Colleen Muraresku
Claude Ferec
Armelle Garenne
Servane Lelez-Soquet
Cassandra A Rogers
Yufeng Shen
Dana K Strode
Peyman Bizargity
Alejandro Iglesias
Amy Goldstein
Frances A High
Undiagnosed Diseases Network
David A Sweetser
Rebecca Ganetzky
Johan L K Van Hove
Vincent Procaccio
Cedric Le Marechal
Wendy K Chung
Affiliated Authors:
Mythily Ganapathi
Volkan Okur
Kurenai Tanji
Angela Lignelli-Dipple
Charles LeDuc
Jacob Hagen
Cathleen Cooper
Yufeng Shen
Alejandro Iglesias
Wendy K Chung
Columbia Affiliation:
Subjects:
Brain Diseases (MeSH)
Leigh Disease (MeSH)
Mitochondrial Proton-Translocating ATPases (MeSH)
Author Keywords:
atp synthase
atp5po
complex v
oscp oligomycin sensitivity conferring protein
mitochondria
splice variant
mitochondrial disease
leigh syndrome
hypertrophic cardiomyopathy
seizure
yeast atp5
elink
Publication Type:
Article
Unique ID:
10.1002/jimd.12526
PMID:
35621276
DOI:
10.1002/jimd.12526
Journal:
Journal of Inherited Metabolic Disease
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: