Tay Sachs Disease
Mostrando 1-12 de 37 artigos, teses e dissertações.
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1. "Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil" / Molecular analysis of Gaucher and Tay-Sachs disease in Brazil
Este estudo descreve a análise molecular de pacientes da doença de Gaucher (DG) e Tay-Sachs (DTS) no Brasil. Foram estudados nove casos de formas clássicas da DTS que mostraram uma prevalência da mutação IVS7+1g>c, já descrita em pacientes Portugueses e dez casos das variantes de início juvenil e tardio da DTS, mostrando heterogeneidade genética. No
Publicado em: 2006
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2. Biochemical characterization of the GM2 gangliosidosis B1 variant
The deficiency of the A isoenzyme of ß-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 gangliosid
Brazilian Journal of Medical and Biological Research. Publicado em: 2004-06
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3. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
CONTEXTO: A doença de Tay-Sachs é uma doença autossômica recessiva caracterizada por uma degeneração neurológica progressiva, fatal na primeira infância. Na população judaica Ashkenazita a incidência da doença é de um para cada 3.500 nascimentos, e a freqüência de portadores é de um para cada 29 indivíduos. Programas de triagem de portadores
Sao Paulo Medical Journal. Publicado em: 2001-07
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4. The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue
The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain obtained at biopsy from Tay-Sachs patients. Utilizing Tay-Sachs ganglioside labeled with 14C in the N-acetylgalactosaminyl portion or 3H in the N-acetylneuraminosyl p
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5. Studies of red cell stromal proteins in Tay-Sachs disease
Hemoglobin-free red blood cell ghosts of nine patients with Tay-Sachs disease and 14 normal control subjects have been analyzed for content of total protein, hexosamines, individual amino acids, and sialic acid. Red cell ghosts from Tay-Sachs' children have been shown to contain significantly increased amounts of protein, hexosamine, threonine, and serine, a
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6. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Tay-Sachs disease is an inherited disorder in which the alpha chain of the lysosomal enzyme beta-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appe
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7. Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.
Tay-Sachs disease, the prototype of the GM2 gangliosidoses, is a catastrophic neurodegenerative disorder of infancy. The disease is caused by mutations in the HEXA gene resulting in an absence of the lysosomal enzyme, beta-hexosaminidase A. As a consequence of the enzyme deficiency, GM2 ganglioside accumulates progressively, beginning early in fetal life, to
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8. Fine structure of cutaneous nerves in ganglioside storage disease.
Skin punch biopsies of six children suffering from infantile or late onset Tay-Sachs disease, juvenile Sandhoff disease, or GM gangliosidosis type I, contained axons which, when viewed with the electron microscope, were distended by large amorphous black deposits. These are nonspecific residual bodies. Their large numbers indicate severe disturbance of the n
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9. TAY-SACHS'S DISEASE (AMAUROTIC FAMILY IDIOCY)*
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10. WAREN TAY-SACHS DISEASE IN A CHINESE INFANT*
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11. Tay-Sachs Disease: Screening and Prevention
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12. Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment
The GM2 activator deficiency (also known as the AB variant), Tay–Sachs disease, and Sandhoff disease are the major forms of the GM2 gangliosidoses, disorders caused by defective degradation of GM2 ganglioside. Tay–Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of β-hexosaminidase A. The GM2 activat
The National Academy of Sciences of the USA.