English Journal

Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs.

Gultekin GI, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U.SourceSection of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Journal of veterinary internal medicine / American College of Veterinary Internal Medicine.J Vet Intern Med.2012 Jul-Aug;26(4):935-44.
BACKGROUND: Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs.OBJECTIVES: To report 3 new breed-specific PK-LR gene mutations and a retrospective survey of PK mutations in as mall and selected group of Beagles and West
PMID 22805166

Glucose-6-phosphate isomerase deficiency results in mTOR activation, failed translocation of lipin 1α to the nucleus and hypersensitivity to glucose: Implications for the inherited glycolytic disease.

Haller JF, Krawczyk SA, Gostilovitch L, Corkey BE, Zoeller RA.SourceDepartment of Physiology and Biophysics, Boston University School of Medicine, USA.
Biochimica et biophysica acta.Biochim Biophys Acta.2011 Nov;1812(11):1393-402. doi: 10.1016/j.bbadis.2011.07.007. Epub 2011 Jul 21.
Inherited glucose-6-phosphate isomerase (GPI) deficiency is the second most frequent glycolytic erythroenzymopathy in humans. Patients present with non-spherocytic anemia of variable severity and with neuromuscular dysfunction. We previously described Chinese hamster (CHO) cell lines with mutations
PMID 21787864

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil.

Oliveira RA, Oshiro M, Hirata MH, Hirata RD, Ribeiro GS, Medeiros TM, de O Barretto OC.SourceDepartamento de Farmácia, Universidade Federal do Maranhão, São Luis, MA Brazil.
Genetics and molecular biology.Genet Mol Biol.2009 Apr;32(2):251-4. doi: 10.1590/S1415-47572009005000033. Epub 2009 Jun 1.
In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD) activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate) in dengue prevention programs in 27 cities in São Paulo State, Brazi
PMID 21637675

Japanese Journal

Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan

英: erythroenzymopathy, red blood cell enzymopathy, red cell enzyme abnormalities