Results 111 to 120 of about 2,622 (152)

Nutrient-driven histone acetylation underlies energy storage and mobilization. [PDF]

open access: yesMol Metab
Chen L   +11 more
europepmc   +1 more source

Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in thepyruvate kinase (PKLR) gene

American Journal of Medical Genetics, 1998
Gaucher disease (GD), caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GBA), is the most common human glycolipid storage disease. The incidence of the disease is particularly high in the Ashkenazi Jewish population, with a carrier frequency of 0.068. The 1226A-->G and 84GG mutations are the two predominant disease-causing alleles.
Abraham Weizman   +2 more
exaly   +3 more sources

Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression

Blood, 2005
AbstractHuman erythrocyte R-type pyruvate kinase (RPK) deficiency is an autosomal recessive disorder produced by mutations in the PKLR gene, causing chronic nonspherocytic hemolytic anemia. Survival of patients with severe RPK deficiency has been associated with compensatory expression in red blood cells (RBCs) of M2PK, an isoenzyme showing wide tissue
JOSÉ M Bautista   +2 more
exaly   +3 more sources

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