Article
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
eLife - 13 Sept 2016
Guarani Virginia, Jardel Claude, Chrétien Dominique, Lombès Anne, Bénit Paule, Labasse Clémence, Lacène Emmanuelle, Bourillon Agnès, Imbard Apolline, Benoist Jean-François, Dorboz Imen, Gilleron Mylène, Goetzman Eric S, Gaignard Pauline, Slama Abdelhamid, Elmaleh-Bergès Monique, Romero Norma B, Rustin Pierre, Ogier de Baulny Hélène, Paulo Joao A, Harper J Wade, Schiff Manuel
Abstract excerpt
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 siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease,...
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