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FH wt Allele

Known as: MCUL1, Fumarate Hydratase wt Allele, LRCC 
Human FH wild-type allele is located in the vicinity of 1q42.1 and is approximately 22 kb in length. This allele, which encodes fumarate hydratase… 
National Institutes of Health

Related topics

Related topics

6 relations
1q42.1Cell RespirationCitrate Cycle (TCA Cycle) PathwayCitric Acid Cycle

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization
Background: Fumarase, a significant enzyme of energy metabolism, catalyzes the reversible hydration of fumarate to L-malate… 
2018
2018
Histopathological analysis of aggressive renal cell carcinoma harboring a unique germline mutation in fumarate hydratase
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder characterized by cutaneous and uterine… 
Review
2015
Review
2015
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1).
The nuclear erythroid 2-like 2 transcription factor (NRF2), is a major regulator of cellular redox balance. Although NRF2… 
2011
2011
Expression and characterization of fumarase (FUMR) from Rhizopus oryzae.
2010
2010
Identification and characterization of a novel fumarase gene by metagenome expression cloning from marine microorganisms
BackgroundFumarase catalyzes the reversible hydration of fumarate to L-malate and is a key enzyme in the tricarboxylic acid (TCA… 
2009
2009
Unique Opportunity for Disease-based Therapy*
Kidney cancer is not a single disease; it is comprised of several different types of cancer, each with a different histology… 
2008
2008
A cancer‐predisposing “hot spot” mutation of the fumarase gene creates a dominant negative protein
The Fumarase (Fumarate Hydratase, FH) is a tumor suppressor gene whose germline heterozygous mutations predispose to hereditary… 
2008
2008
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer
A 41‐year‐old man was diagnosed with a cutaneous leiomyosarcoma on the left shoulder. Family history revealed that his brother… 
2006
2006
Molecular and biochemical investigations in fumarase deficiency.
1992
1992
Evidence that rat liver mitochondrial and cytosolic fumarases are synthesized from one species of mRNA by alternative translational initiation at two in-phase AUG codons.
Rat liver contains two isozymes of fumarase, mitochondrial and cytosolic enzymes. Recently, we suggested that the precursors of… 
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