期刊
MOLECULAR GENETICS AND METABOLISM
卷 120, 期 3, 页码 243-246出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2016.12.005
关键词
NDUFAF3; OXPHOS; Leigh syndrome; Complex I; Assembly factor
资金
- European Commission [FP7-PEOPLE-ITN. GA. 317433]
- German Research Foundation/Deutsche Forschungsgemeinschaft [BA 5758/1-1]
NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. Variants in NDUFAF3 have been identified as a cause of severe multisystem mitochondrial disease. In a patient presenting with Leigh syndrome, which has hitherto not been described as a clinical feature of NDUFAF3 deficiency, we identified a novel homozygous variant and confirmed its pathogenicity in patient fibroblasts studies. Furthermore, we present an analysis of complex 1 assembly routes representative of each functional module and, thereby, link NDUFAF3 to a specific step in complex I assembly. Therefore, our report expands the phenotype of NDUFAF3 deficiency and further characterizes the role of NDUFAF3 in complex] biogenesis. (C) 2016 Elsevier Inc. All rights reserved.
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