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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: eLife Sciences Publications Ltd 2016-09-01
Rangatū:eLife
Ngā marau:
QIL1
MICOS
mitochondrial disease
early-onset fatal mitochondrial encephalopathy
3-methylglutaconic aciduria
liver disease
Urunga tuihono:https://elifesciences.org/articles/17163
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