QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 2015). Here, we identify QIL1 null alleles in two si...

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Bibliographic Details
Main Authors: Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2016-09-01
Series:eLife
Subjects:
QIL1
MICOS
mitochondrial disease
early-onset fatal mitochondrial encephalopathy
3-methylglutaconic aciduria
liver disease
Online Access:https://elifesciences.org/articles/17163

Internet

https://elifesciences.org/articles/17163

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