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MetabolomicsDistinct succinate modifying products are clinically diagnostic and prognostic biomarkers for fumarate hydratase deficient renal cell carcinoma

Germline or somatic loss-of-function of fumarate hydratase (FH) predisposes patients to an aggressive form of renal cell carcinoma (RCC). Since other than tumor resection, there is no effective therapy for FH-deficient RCC, a competent method for early diagnosis and for early detection of recurre...

2022-08-12 | MTBLS3628 | MetaboLights
TranscriptomicsTranscription profiling of human fibriods vs. normal myometrium with mutated or wild type fumarate hydratase (FH) gene reveals distinct expression profiles in fumarate-hydratase-deficient uterine fibroids.
A series of gene expression measurements of normal myometrium and uterine fibroids with mutated or wild-type fumarate hydratase (FH) gene.
ORGANISM(S): Homo sapiens 
2007-10-02 | E-GEOD-2725 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human uterine fibroids with mutated or wild type fumarate hydratase gene
A series of gene expression measurements of uterine fibroids with mutated or wild-type fumarate hydratase (FH) gene.
ORGANISM(S): Homo sapiens 
2007-08-25 | E-GEOD-2152 | biostudies-arrayexpress
TranscriptomicsAn antioxidant response phenotype is shared between hereditary and sporadic type 2 papillary renal cell carcinoma
Fumarate hydratase (FH) mutation causes hereditary type 2 papillary renal cell carcinoma (HLRCC, Hereditary Leiomyomatosis and Renal Cell Cancer (MM ID # 605839)). The main effect of FH mutation is fumarate accumulation. The current paradigm posits that the main consequence of fumarate accumulation ...
ORGANISM(S): Homo sapiens 
2011-10-17 | E-GEOD-26574 | biostudies-arrayexpress
ProteomicsA NOVEL REGULATION OF FUMARATE HYDRATASE ACTIVITY THROUGH HISTONE DEACETYLASE 6 BINDING
Introduction: Altered metabolism is a key hallmark of tumour cells (Pavlova & Thompson, 2016) and has long been associated with relapse and resistance to treatment (Gonçalves et al., 2021; Lv et al., 2022). Recently, we identified a new role for histone deacetylase 6 (HDAC6) in the regulation of gl...
ORGANISM(S): Homo sapiens (Human) 
2025-08-04 | PXD057865 | Pride
Fumarate hydratase Regulation Histone deacetylase 6. 
UnknownEffects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity.
Not available
S-EPMC5471156 | biostudies-literature
TranscriptomicsTranscription profiling of human uterine fibroids and normal myometrium
Defects in mitochondrial enzymes predispose to severe developmental defects as well as tumorigenesis. Heterozygous germline mutations in the nuclear gene encoding fumarate hydratase (FH), an enzyme catalyzing the hydration of fumarate in the Krebs tricarboxylic acid cycle, cause hereditary leiomyoma...
ORGANISM(S): Homo sapiens 
2007-10-02 | E-GEOD-2724 | biostudies-arrayexpress
ProteomicsLoss of Mitochondrial Fatty Acid β-Oxidation Protein Short Chain Enoyl-CoA Hydratase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Short chain enoyl-CoA hydratase 1 (ECHS1) is involved in the second step of mitochondrial fatty acid β-oxidation (FAO), catalysing the hydration of short chain enoyl-CoA esters to short chain 3-hyroxyl-CoA esters. Genetic deficiency in ECHS1 (ECHS1D) is associated with a specific subset of Leigh Syn...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2023-05-10 | PXD032761 | Pride
Mitochondria Oxphos Mitochondrial disease Echs1 deficiency Short chain enoyl-coa hydratase Fatty acid oxidation 
ProteomicsProteome-wide analysis of cysteine oxidation reveals metabolic sensitivity to redox stress, PART 2
Reactive oxygen species (ROS) are increasingly recognised as important regulators of cellular biology through the oxidative modification of protein cysteine residues. Comprehensive identification of redox-regulated proteins and cellular pathways are crucial to understand ROS-mediated events. Here, w...
ORGANISM(S): Mus musculus (Mouse) 
2018-03-06 | PXD006372 | Pride
Oxidative stress High ph fractionation Proteome Orbitrap hf Ros Mouse kidney tissue fumarate hydratase (fh) deficient Dimethyl labeling Primary immortalised kidney epithelial cells fumarate hydratase (fh) deficient Cysteine oxidation quantitation 
TranscriptomicsExpression data of cystic renal epithelial tissue from mice deficient for fumarate hydratase.
Fumarate hydratase (FH) mutations cause hereditary leiomyomatosis and renal cell cancer (HLRCC). We have conditionally inactivated the murine ortholog (Fh1) in renal tubular epithelial cells in order to generate an in vivo model of HLRCC. Fh1 knockout mice recapitulates important aspects of HLRCC in...
ORGANISM(S): Mus musculus 
2010-12-22 | E-GEOD-10989 | biostudies-arrayexpress
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