Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome.
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DOI: 10.1016/j.mito.2021.02.011
Abstract: Ethylmalonic encephalopathy(EE) is a rare autosomal recessive inborn error of metabolism. To study the molecular effects of ETHE1 p. D165H mutation, we employed mass spectrometry-based mitochondrial proteome and phosphoproteome profiling in the human skeletal muscle.… read more here.
Keywords: ethe1 d165h; skeletal muscle; d165h mutation; ethylmalonic encephalopathy ... See more keywords