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Literature summary for 1.13.11.18 extracted from

  • Viscomi, C.; Burlina, A.B.; Dweikat, I.; Savoiardo, M.; Lamperti, C.; Hildebrandt, T.; Tiranti, V.; Zeviani, M.
    Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy (2010), Nat. Med., 16, 869-871.
    View publication on PubMed

Application

Application Comment Organism
medicine the combined oral treatment with metronidazole and N-acetylcysteine is an effective therapy for ethylmalonic encephalopathy which is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 Mus musculus
medicine the combined oral treatment with metronidazole and N-acetylcysteine is an effective therapy for ethylmalonic encephalopathy which is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 Homo sapiens

Protein Variants

Protein Variants Comment Organism
L55P the mutation is associated with ethylmalonic encephalopathy Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrial matrix
-
Mus musculus 5759
-
mitochondrial matrix
-
Homo sapiens 5759
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Synonyms

Synonyms Comment Organism
ETHE1
-
Mus musculus
ETHE1
-
Homo sapiens

General Information

General Information Comment Organism
malfunction ethylmalonic encephalopathy is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues Mus musculus
malfunction ethylmalonic encephalopathy is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues Homo sapiens