QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver...
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
About this item
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Author / Creator
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 and Schiff, Manuel
Publisher
England: eLife Science Publications, Ltd
Journal title
Language
English
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Publication information
Publisher
England: eLife Science Publications, Ltd
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More information
Scope and Contents
Contents
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 ea...
Alternative Titles
Full title
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c2eb5d8eb5b14293a741ed6e1db3525a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c2eb5d8eb5b14293a741ed6e1db3525a
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.17163
