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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	eLife Sciences Publications Ltd 2016-09-01
Edice:	eLife
Témata:	QIL1 MICOS mitochondrial disease early-onset fatal mitochondrial encephalopathy 3-methylglutaconic aciduria liver disease
On-line přístup:	https://elifesciences.org/articles/17163
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!