Structural basis of the GM2 gangliosidosis B 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 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 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 کاملCrystal Structure of Human β-Galactosidase: The Structural Basis of GM1 Gangliosidosis and Morquio B Diseases
Background Deficiencies in β-D-galactosidase cause lysosomal storage diseases. Results This is the first to describe the crystal structure of human β-GAL. Human β-GAL is comprised of a TIM barrel domain and two -domains. Conclusion The mutations were classified as mutations directly affecting the ligand recognition, mutations inside the protein core, or mutations located in the protein surface...
متن کاملGM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
BACKGROUND GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. CASE PRESENTATION Present case is a one year old male born to 3rd degree consanguineous Indian parents from Ma...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2003
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-003-0082-7