Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy |
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| Authors: | Hsin-Yu Liu Pin-Chao Liao Kai-Tun Chuang Mou-Chieh Kao |
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| Institution: | (1) Institute of Molecular Medicine & Department of Life Science, National Tsing Hua University, 101, Sec. 2, Kuang-Fu Rd., Hsinchu, 30013, Taiwan, R.O.C |
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| Abstract: | Background NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2), containing one iron sulfur cluster (2Fe-2S] binuclear cluster N1a),
is one of the core nuclear-encoded subunits existing in human mitochondrial complex I. Defects in this subunit have been associated
with Parkinson's disease, Alzheimer's disease, Bipolar disorder, and Schizophrenia. The aim of this study is to examine the
mitochondrial targeting of NDUFV2 and dissect the pathogenetic mechanism of one human deletion mutation present in patients
with early-onset hypertrophic cardiomyopathy and encephalopathy. |
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