Browsing Harvard Medical School by Keyword "3-methylglutaconic aciduria"
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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
(eLife Sciences Publications, Ltd, 2016)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 ...