Article
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
Neurochemistry international - 1 Oct 2017
Kim Chul, Potluri Prasanth, Khalil Ahmed, Gaut Daria, McManus Meagan, Compton Shannon, Wallace Douglas C, Yadava Nagendra
Abstract excerpt
The respiratory chain Complex I deficiencies are the most common cause of mitochondrial diseases. Complex I biogenesis is controlled by 58 genes and at least 47 of these cause mitochondrial disease in humans. Two of these are X-chromosome linked nuclear (nDNA) genes (NDUFA1 and NDUFB11), and 7 are mitochondrial (mtDNA, MT-ND1-6, -4L) genes, which may be responsible for sex-dependent variation in the presentation...
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