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LC-MS/MS proteomics of ETHE1 deficient patient fibroblasts_Study-1

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https://www.omicsdi.org/dataset/pride/PXD009880
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The mitochondrial enzyme ETHE1 is a persulfide dioxygenase essential for cellular sulfide detoxification, and its deficiency causes the severe and complex inherited metabolic disorder ethylmalonic encephalopathy (EE). In spite of well-described clinical symptoms of the disease, detailed cellular and molecular characterization is still ambiguous. TMT-based large-scale proteomics was performed to broadly elucidate cellular consequences of the ETHE1 deficiency in the patient fibroblasts.
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2018-11-07
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