Results 91 to 100 of about 291 (129)

No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas

Cancer Letters, 2006
Germline mutations in Fumarate Hydratase (FH) cause the development of leiomyomas and leiomyosarcomas in the syndromes Multiple Cutaneous and Uterine Leiomyomata (MCUL1) and Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). There is little evidence, however, that FH mutation plays a role in the development of sporadic leiomyomas or ...
Janet Shipley, Julia Bridge
exaly   +3 more sources

Substrates for fumarate hydratase

Journal of the American Chemical Society, 1969
Fluorofumaric acid and difluorofumaric acid are found to be substrates for fumarate hydratase. The direction of addition of water to fluorofumarate and, more importantly, the relative reactivities of fluorofumarate and difluorofumarate support a mechanism for the hydration reaction that involves a carbonium ion type intermediate.
Nigh, Wesley G., Richards, John H.
openaire   +3 more sources

Fumarate Hydratase Deficiency in Monozygotic Twins

Pediatric Neurology, 2006
Monozygotic twins with fumarate hydratase deficiency presenting with profound hypotonia and developmental delay are reported. This rare organic aciduria has been previously described in random case reports, although, to our knowledge, these are the first reported monozygotic twins and gene testing revealed a novel mutation in both. During their course,
Tonya M, Phillips, James B, Gibson, Dale A, Ellison   +2 more
openaire   +2 more sources

Variability of clinical presentation in fumarate hydratase deficiency

The Journal of Pediatrics, 1992
A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value.
O N, Elpeleg, N, Amir, E, Christensen
openaire   +2 more sources

PHOSPHOFRUCTOKINASE AND FUMARATE HYDRATASE IN DEVELOPING RAT BRAIN

Journal of Neurochemistry, 1971
AbstractThe developmental patterns of phosphofructokinase, fumarate hydratase and lactate dehydrogenase were determined and compared using homogenates of rat brain. Phosphofructokinase activity, expressed in terms of tissue wet wt., was relatively constant from 5 days before birth to 8 days postnatal; a 110 per cent increase in activity occurred ...
B P, Adlard, J, Dobbing
openaire   +2 more sources

Fumarate hydratase as a metabolic regulator of immunity

Trends in Cell Biology
Tricarboxylic acid (TCA) cycle metabolites have been implicated in modulating signalling pathways in immune cells. Notable examples include succinate and itaconate, which have pro- and anti-inflammatory roles, respectively. Recently, fumarate has emerged as having specific roles in macrophage activation, regulating the production of such cytokines as ...
Peace, Christian G., O’Carroll, Shane M., O’Neill, Luke A.J.   +2 more
openaire   +2 more sources

Abstract 1134: Fumarate activates NRF2 in tissues with fumarate hydratase mutation

Cancer Research, 2012
Abstract Fumarate hydratase (FH) mutation is associated with hereditary type 2 papillary renal cell carcinoma. Recently, we as well as others found that nuclear factor (erythroid-derived 2)-like 2 (NRF2) activation is a dominant feature of FH mutation.
Aikseng Ooi, Douglas Whitten, Ximing J. Yang, Ming Zhou, Stéphane Richard, Bin Tean Teh, Kyle A. Furge   +6 more
openaire   +1 more source

Conventional renal cancer in a patient with fumarate hydratase mutation

Human Pathology, 2007
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leiomyomas, renal cell cancer, and uterine leiomyosarcoma.
Heli J, Lehtonen, Ignacio, Blanco, Jose M, Piulats, Riitta, Herva, Virpi, Launonen, Lauri A, Aaltonen   +5 more
openaire   +2 more sources

Purification and properties of fumarate hydratase from baker's yeast

Biochimica et Biophysica Acta (BBA) - Enzymology and Biological Oxidation, 1966
Summary Baker's yeast fumarate hydratase ( L -malate hydro-lyase, EC 4.2.1.2) has been purified about 600 times from cell-free extracts by treatment with calcium phosphate gel, (NH4)2SO4 fractionation, filtration through Sephadex G-200 and chromatography on hydroxylapatite.
M A, Cataldi, A O, Stoppani
openaire   +2 more sources

The genetic control of fumarate hydratase (fumarase) in Drosophila melanogaster

Molecular and General Genetics MGG, 1973
Using electrophoretic variants of fumarase, the genetic locus of this enzyme was determined to be at 1-19.9.
K, Madhavan, H, Ursprung
openaire   +2 more sources