Recombinant Human Fumarate hydratase, mitochondrial (FH)

1. Our findings suggest that over half of histologically diagnosed leiomyomata with bizarre nuclei may be related to FH alterations or FH mutations PMID: 28863073
2. In this study, all cases of atypical intradermal smooth muscle neoplasms and cutaneous leiomyosarcoma examined showed retained expression of FH PMID: 28703412
3. we aimed in this study to examine these common functional pathways in uterine leiomyomas (ULM)with different driver mutations. We collected ULM with MED12, HMGA2, and FH mutations and examined the selected markers by immunohistochemistry. PMID: 29790226
4. Induction of ferroptosis in fumarate hydratase-inactivated tumors represents an opportunity for synthetic lethality in cancer. PMID: 29917289
5. A case series of 2 sisters in their 20s who presented with isolated uterine leiomyomas and were found to carry a novel mutation for the fumarate hydratase gene. PMID: 28700432
6. The clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers has been reassessed. PMID: 28300276
7. As with many emerging cancer syndromes, the phenotypic spectrum ofhereditary leiomyomatosis and renal cell cancer( HLRCC) is likely to expand as the FH gene becomes incorporated on more multiplex germline panels, which will also help to clarify the potential involvement of other tumor types in HLRCC PMID: 28620008
8. A novel mutation in FH gene (c.1349_1352delATGA) in hereditary leiomyomatosis and renal cell cancer syndrome PMID: 27566483
9. We show that the mechanism of fumarate hydratase distribution is alternative transcription initiation from a broad promoter. PMID: 27037871
10. fumarate increases ferritin gene transcription by activating the NRF2 (nuclear factor [erythroid-derived 2]-like 2) transcription factor. PMID: 28289076
11. FH-Ser75 phosphorylation level inversely correlates with the OGT level and poor prognosis in pancreatic cancer patients. Report mechanism underlying transcription regulation by FH and the linkage between dysregulated OGT activity and growth advantage of cancer cells under glucose deficiency. PMID: 28628081
12. Loss of FH immunohistochemical (IHC) expression in cutaneous leiomyomas is a sensitive and specific marker for detection of hereditary leiomyomatosis and renal cell carcinoma (HLRCC). FH expression by IHC was absent in 9 specimens and retained in 85 specimens and 2 cases were equivocal with minimal FH expression while succinate dehydrogenase B expression was retained in 95 specimens and equivocal in 1 specimen. PMID: 28288038
13. LSH promoted cancer progression in part by regulating expression of fumarate hydratase (FH). PMID: 27302170
14. Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. PMID: 28747166
15. Results indicate that FH-deficient uterine leiomyomas occur with a high frequency among atypical leiomyomas and infrequently in nonatypical leiomyomas and are often histologically distinctive. They seem to have a low biological potential and lack any significant association with leiomyosarcoma. PMID: 27454940
16. Mutations in some enzymes of the TCA cycle: Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH) and fumarate hydratase (FH) are associated with the accumulation of metabolites that are able to influence many aspects of cancer development and progression and for this reason are termed onco-metabolites. PMID: 27528759
17. Two partial FH gene deletions were identified, with one resulting in loss of exon 1 and the upstream region of the FH gene only. Kidney cancer was diagnosed in 9 (32%) of 28 patients and 7 (54%) of 13 families possessing either complete or partial FH deletions. Cutaneous and uterine leiomyomas were observed at similar rates to those in FH point mutation families PMID: 28196407
18. Of the 12 available members of this second generation, 6 (1 man and 5 women, aged 44-57 years) had a novel FH mutation. All had the same mild phenotype with cutaneous asymptomatic leiomyomas, uterine fibroids (if women) and no kidney tumor. PMID: 27161211
19. After indirect co-culture, OP was increased in the BxPc-3 and Panc-1 cells; correspondingly, succinate dehydrogenase, FH and MCT expression were increased. After the MCT1-specific inhibitor removed 'tumor-stromal' metabolic coupling, the migration and invasion abilities of the pancreatic cancer cells were decreased. PMID: 28260082
20. Negative FH staining could indicate a high risk of hereditary leiomyomatosis and renal cell cancer but it could also suggest the presence of a syndrome in up to 25% of sporadic cases. PMID: 27097334
21. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male and his father, which predisposes to an aggressive form of renal cell cancer. PMID: 26275867
22. While the great majority of patients with hereditary leiomyomatosis and renal cell carcinoma will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation. PMID: 26574848
23. significant association with overall survival were confirmed for SDHC gene, SDHD gene and FH gene ... SDHC gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma PMID: 26377099
24. Describe a novel mutation in the fumarate hydratase gene in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. PMID: 26493120
25. Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval PMID: 26113603
26. Morphology and immunohistochemistry for fumarate hydratase aid in detection of fumarate hydratase mutations in uterine leiomyomas from young patients. PMID: 26457356
27. Case report of a family with a fumarate hydratase mutation causing uterine leiomyomas and renal cell cancer. PMID: 25923021
28. These findings 1) confirm that germline FH mutations may present, albeit rarely with pheochromocytoma or paraganglioma; and 2) extend the clinical phenotype associated with FH mutations to pediatric pheochromocytoma. PMID: 25004247
29. A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs). PMID: 24729973
30. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. PMID: 24334767
31. Novel missense mutation has been found in the fumarate hydratase gene in familial renal cell cancer patients lacking cutaneous leiomyomas. PMID: 24684806
32. These results extend the range of clinical and biochemical variation associated with fumarase deficiency. PMID: 21560188
33. Mutation in the fumarate hydratase gene is associated with hepatic diseases in twins. PMID: 24182348
34. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. PMID: 22764886
35. fumarate hydratase mRNA expression decreases significantly in correlation with the transition from normal renal parenchyma to renal cell cancer PMID: 23295344
36. somatic mutations in FH do not show pronounced effect in nonsyndromic uterine leiomyomas compared to that of their syndromic counterparts. PMID: 22528940
37. Gastric leiomyoma was diagnosed in 38 y/o female MCUL patient on endoscopy performed because of dyspepsia. Routine colonoscopy disclosed hyperplastic polyposis. Testing revealed a previously not reported mutation of the FH gene (c.422G>A, p.Trp141X). PMID: 22713448
38. Tumor-derived FH and SDH mutations accumulate fumarate and succinate, leading to enzymatic inhibition of multiple alpha-KG-dependent dioxygenases and consequent alterations of genome-wide histone and DNA methylation. PMID: 22677546
39. Inactivation of the TCA cycle enzyme, fumarate hydratase (FH), drives a metabolic shift to aerobic glycolysis in FH-de fi cient kidney tumors PMID: 21907923
40. The crystal structure of human fumarate hydratase shows that mutations can be grouped into two distinct classes either affecting structural integrity of the core enzyme architecture, or are localized around the enzyme active site. PMID: 21445611
41. reduced FH leads to the accumulation of hypoxia inducible factor- 2alpha (HIF-2alpha) PMID: 21695080
42. Novel mutations within the FH gene are associated with hereditary leiomyomatosis and renal cell cancer. PMID: 21398687
43. 4 novel mutations and 1 whole-gene deletion of fumarate hydratase in families with an autosomal dominant syndrome characterized by multiple cutaneous piloleiomyomas, uterine leiomyomas and papillary type 2 renal cance PMID: 20618355
44. These experiments demonstrated that upregulation of HIF-1alpha occurs as a direct consequence of FH inactivation. PMID: 20660115
45. first case of fumaric aciduria described in Brazil, which presented with some interesting clinical and biochemical findings such as colpocephaly, hepatic alterations, and marked metabolic acidosis since birth PMID: 20549362
46. Data suggest that fumarase and fumaric acid are critical elements of the DNA damage response, which underlies the tumor suppressor role of fumarase in human cells and which is most probably HIF independent. PMID: 20231875
47. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer PMID: 11865300
48. changes in the turnover number and the cocrystal structure with bound citrate due to the human missense mutation G-955-C engineered in fumarase C from Escherichia coli PMID: 12021453
49. Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas PMID: 12177782
50. Review. Fumarate hydratase catalyses a step in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the gene encoding this enzymes causes predisposition to inherited neoplasia syndromes. PMID: 12612654

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HGNC: 3700

OMIM: 136850

KEGG: hsa:2271

STRING: 9606.ENSP00000355518

UniGene: Hs.592490