Biochemical characterization of the GM2 gangliosidosis B1 variant
نویسندگان
چکیده
منابع مشابه
Biochemical characterization of the GM2 gangliosidosis B1 variant.
The deficiency of the A isoenzyme of beta-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inactive Hex A isoenzyme for the hydrolysis of the GM2 ganglioside and synthetic substrates with neg...
متن کاملPurification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Variant AB of infantile GM2 gangliosidosis is a fatal disease leading invariably to death within the first few years of life, due to the excessive storage of the glycolipids GM2 and GA2 which occurs in the nervous tissue of the patient. Unlike other variants of this hereditary disease, where a deficiency of hexosaminidase A, the ganglioside-GM2-degrading enzyme, could be demonstrated, the varia...
متن کاملClinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
Mutations in the hexosaminidase A gene (HEXA) causing the B1 variant of GM2-gangliosidosis result in the presence of a mutant enzyme protein with a catalytically defective alpha subunit. A rare and panethnically distributed mutation, transition G533A (Arg178His), is known to be a common allele among Portuguese patients with the subacute phenotype. We now report the presence of an Arg178His alle...
متن کاملPathology of GM2 gangliosidosis in Jacob sheep.
The G(M2) gangliosidoses are a group of lysosomal storage diseases caused by defects in the genes coding for the enzyme hexosaminidase or the G(M2) activator protein. Four Jacob sheep from the same farm were examined over a 3-year period for a progressive neurologic disease. Two lambs were 6-month-old intact males and 2 were 8-month-old females. Clinical findings included ataxia in all 4 limbs,...
متن کاملLate onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.
Brett, E. M., Ellis, R. B., Haas, L., Ikonne, J. U., Lake, B. D., Patrick, A. D., and Stephens, R. (1973). Archives of Disease in Childhood, 48, 775. Late onset GM2-gangliosidosis: clinical, pathological, and biochemical studies on 8 patients. Eight cases of late onset Gm,-gangliosidosis are described. 4 presented before the age of 2 years and 4 between 3j and 10 years. Gait disturbance, intell...
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ژورنال
عنوان ژورنال: Brazilian Journal of Medical and Biological Research
سال: 2004
ISSN: 0100-879X
DOI: 10.1590/s0100-879x2004000600001