Biochemical Analysis of a Patient with Fumarate Hydratase Deficiency
نویسندگان
چکیده
منابع مشابه
Biochemical characterization and essentiality of Plasmodium fumarate hydratase.
Plasmodium falciparum (Pf), the causative agent of malaria, has an iron-sulfur cluster-containing class I fumarate hydratase (FH) that catalyzes the interconversion of fumarate to malate, a well-known reaction in the tricarboxylic acid cycle. In humans, the same reaction is catalyzed by class II FH that has no sequence or structural homology with the class I enzyme from Plasmodium. Fumarate is ...
متن کاملInhibition of Mitochondrial Aconitase by Succination in Fumarate Hydratase Deficiency
The gene encoding the Krebs cycle enzyme fumarate hydratase (FH) is mutated in hereditary leiomyomatosis and renal cell cancer (HLRCC). Loss of FH activity causes accumulation of intracellular fumarate, which can directly modify cysteine residues to form 2-succinocysteine through succination. We undertook a proteomic-based screen in cells and renal cysts from Fh1 (murine FH)-deficient mice and ...
متن کاملCutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
We report on an exceedingly rare case of cutaneous and uterine leiomyomatosis in a 58-year-old Caucasian woman associated with ovarian cystadenoma and complete deletion of the fumarate hydratase gene. All patients and their family members with verified mutation have to be regularly screened for associated neoplasms, in particular papillary renal cell carcinoma (HLRCC, hereditary leiomyomatosis ...
متن کاملIdentification of Fumarate Hydratase Inhibitors with Nutrient-Dependent Cytotoxicity
Development of cell-permeable small molecules that target enzymes involved in energy metabolism remains important yet challenging. We describe here the discovery of a new class of compounds with a nutrient-dependent cytotoxicity profile that arises from pharmacological inhibition of fumarate hydratase (also known as fumarase). This finding was enabled by a high-throughput screen of a diverse ch...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2021
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.2021.35.s1.02197