{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:23:39Z","timestamp":1790875419205,"version":"4.1.0"},"reference-count":48,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2016,9,13]],"date-time":"2016-09-13T00:00:00Z","timestamp":1473724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2016,9,13]],"date-time":"2016-09-13T00:00:00Z","timestamp":1473724800000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2016,9,13]],"date-time":"2016-09-13T00:00:00Z","timestamp":1473724800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ouvrir les Yeux"},{"name":"E-rare GENOMIT"},{"name":"Association contre les Maladies Mitochondriales"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM095567"],"award-info":[{"award-number":["GM095567"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS083524"],"award-info":[{"award-number":["NS083524"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    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 (\n                    <jats:xref ref-type=\"bibr\">Guarani et al., 2015<\/jats:xref>\n                    ). Here, we identify\n                    <jats:italic>QIL1<\/jats:italic>\n                    null alleles in two siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease, including defects in respiratory chain function in patient muscle. QIL1 absence in patients\u2019 fibroblasts was associated with MICOS disassembly, abnormal cristae, mild cytochrome\n                    <jats:italic>c<\/jats:italic>\n                    oxidase defect, and sensitivity to glucose withdrawal. QIL1 expression rescued cristae defects, and promoted re-accumulation of MICOS subunits to facilitate MICOS assembly. MICOS assembly and cristae morphology were not efficiently rescued by over-expression of other MICOS subunits in patient fibroblasts. Taken together, these data provide the first evidence of altered MICOS assembly linked with a human mitochondrial disease and confirm a central role for QIL1 in stable MICOS complex formation.\n                  <\/jats:p>","DOI":"10.7554\/elife.17163","type":"journal-article","created":{"date-parts":[[2016,9,13]],"date-time":"2016-09-13T11:00:20Z","timestamp":1473764420000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.17163","source":"Crossref","is-referenced-by-count":70,"title":["QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease"],"prefix":"10.7554","volume":"5","author":[{"given":"Virginia","family":"Guarani","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, Boston, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Jardel","sequence":"additional","affiliation":[{"name":"Inserm U1016, Institut Cochin, CNRS UMR 8104, Paris, 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