Dataset Information

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

ABSTRACT: 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.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Skin, Fibroblast

DISEASE(S): Inherited Metabolic Disorder

SUBMITTER: Johan Palmfeldt

LAB HEAD: Johan Palmfeldt

PROVIDER: PXD009880 | Pride | 2018-11-07

REPOSITORIES: Pride

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Publications

Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria.

Sahebekhtiari Navid N Fernandez-Guerra Paula P Nochi Zahra Z Carlsen Jasper J Bross Peter P Palmfeldt Johan J

Biochimica et biophysica acta. Molecular basis of disease 20181102 1

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. Cellular redox regulation has been described to be influenced in ETHE1 deficient cells, and to clarify this further we applied image cytometry and detec ...[more]

PMID: 30391543

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