Results 1 to 10 of about 291 (129)

Case report: Uterine leiomyoma with fumarate hydratase deficiency

Frontiers in Medicine
Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma ...
Diana Bužinskienė, Diana Bužinskienė, Dominyka Grinciūtė, Mindaugas Šilkūnas, Mindaugas Šilkūnas, Evelina Šidlovska   +5 more
exaly   +5 more sources

Fumarate Hydratase Loss Causes Combined Respiratory Chain Defects

Cell Reports, 2017
Summary: Fumarate hydratase (FH) is an enzyme of the tricarboxylic acid (TCA) cycle mutated in hereditary and sporadic cancers. Despite recent advances in understanding its role in tumorigenesis, the effects of FH loss on mitochondrial metabolism are ...
Bridges Hannah R, Edoardo Gaude, Judy Hirst   +2 more
exaly   +3 more sources

Inhibition of Mitochondrial Aconitase by Succination in Fumarate Hydratase Deficiency [PDF]

Cell Reports, 2013
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
Nicola Ternette, Ming Yang, Mahima Laroyia, Mitsuhiro Kitagawa, Linda O’Flaherty, Kathryn Wolhulter, Kaori Igarashi, Kaori Saito, Keiko Kato, Roman Fischer, Alexandre Berquand, Benedikt M. Kessler, Terry Lappin, Norma Frizzell, Tomoyoshi Soga, Julie Adam, Patrick J. Pollard   +16 more
doaj   +5 more sources

Fumarate Hydratase Deletion in Pancreatic β Cells Leads to Progressive Diabetes

Cell Reports, 2017
We explored the role of the Krebs cycle enzyme fumarate hydratase (FH) in glucose-stimulated insulin secretion (GSIS). Mice lacking Fh1 in pancreatic β cells (Fh1βKO mice) appear normal for 6–8 weeks but then develop progressive glucose intolerance and ...
Patrik Rorsman, Tomoyoshi Soga, Quan Zhang   +2 more
exaly   +3 more sources

The NADPH oxidase NOX4 regulates redox and metabolic homeostasis preventing HCC progression

Hepatology, EarlyView., 2022
Loss of NOX4 in HCC tumor cells induces metabolic reprogramming in a Nrf2/MYC‐dependent manner to promote HCC progression. Abstract Background and Aims The NADPH oxidase NOX4 plays a tumor‐suppressor function in HCC. Silencing NOX4 confers higher proliferative and migratory capacity to HCC cells and increases their in vivo tumorigenic potential in ...
Irene Peñuelas‐Haro, Rut Espinosa‐Sotelo, Eva Crosas‐Molist, Macarena Herranz‐Itúrbide, Daniel Caballero‐Díaz, Ania Alay, Xavier Solé, Emilio Ramos, Teresa Serrano, María L. Martínez‐Chantar, Ulla G. Knaus, José M. Cuezva, Antonio Zorzano, Esther Bertran, Isabel Fabregat   +14 more
wiley   +1 more source

Biochemical characterization and essentiality of fumarate hydratase [PDF]

Journal of Biological Chemistry, 2018
Hemalatha Balaram, Vijay Jayaraman
exaly   +2 more sources

Fumarate hydratase-deficient renal cell carcinoma: a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Fumarate hydratase-deficient renal cell carcinoma is a rare pathological subtype that was defined by the World Health Organization (WHO 5th edition) in 2022.
Yanting Lv, Lide Song, Mengjun Hu
doaj   +1 more source

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

Urology Case Reports, 2020
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer.
Tomoko Yonamine, Tadashi Kaname, Yasutsugu Chinen, Kouichi Tamashiro, Noritake Kosuge, Seiichi Saito   +5 more
doaj   +1 more source

A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas

F&S Reports, 2023
Objective: To describe a novel nonsense mutation in the fumarate hydratase (FH) gene in a Chinese patient with recurrent multiple leiomyomas. Design: Case report. Setting: Medical school-affiliated tertiary hospital.
Yiyin Ruan, B.Sc., Weiwei Feng, M.D., Ph.D., Chenmin Yang, M.D., Ph.D.   +2 more
doaj   +1 more source

FH (fumarate hydratase) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on FH (fumarate hydratase), with data on DNA, on the protein encoded, and where the gene is implicated.
AM Lynch, CC Morton
openaire   +1 more source