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Article

Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

Biochimica et biophysica acta - 1 May 2008

Raimundo Nuno, Ahtinen Jouni, Fumić Ksenija, Barić Ivo, Remes Anne M, Renkonen Risto, Lapatto Risto, Suomalainen Anu

Abstract excerpt

Defects of the oxidative ATP production pathway lead to an amazing variety of disease phenotypes, ranging from childhood encephalomyopathies to hereditary tumor formation. A key enzyme of tricarboxylic cycle, fumarate hydratase (FH), is involved in encephalopathies, but also in leiomyoma formation, and occasionally also in various types of cancer. MELAS (mitochondrial encephalomyopathy, lactic acidosis and...

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PMID: 18313410
DOI: 10.1016/j.bbadis.2008.01.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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