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A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

Autor: Z, Cao, M R, Natowicz, M M, Kaback, J S, Lim-Steele, E M, Prence, D, Brown, T, Chabot, B L, Triggs-Raine

Publikováno v: American journal of human genetics. 53(6)

Deficient activity of beta-hexosaminidase A (Hex A), resulting from mutations in the HEXA gene, typically causes Tay-Sachs disease. However, healthy individuals lacking Hex A activity against synthetic substrates (i.e., individuals who are pseudodefi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::61592a8a76dfe0c32543f8e581cd722d
https://pubmed.ncbi.nlm.nih.gov/7902672

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A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

Autor: B L, Triggs-Raine, E H, Mules, M M, Kaback, J S, Lim-Steele, C E, Dowling, B R, Akerman, M R, Natowicz, E E, Grebner, R, Navon, J P, Welch

Publikováno v: American journal of human genetics. 51(4)

Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c1bc50084cc137386e4807d583f92d02
https://pubmed.ncbi.nlm.nih.gov/8328470

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Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

Autor: B H, Paw, P T, Tieu, M M, Kaback, J, Lim, E F, Neufeld

Publikováno v: American journal of human genetics. 47(4)

Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses. We have examined the distribution of three mutations--a 4-nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6c1277e653633c7505b02ed0ce1ca77c
https://pubmed.ncbi.nlm.nih.gov/2220809

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Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase

Autor: B H, Paw, S M, Moskowitz, N, Uhrhammer, N, Wright, M M, Kaback, E F, Neufeld

Publikováno v: The Journal of biological chemistry. 265(16)

Juvenile GM2 gangliosidosis is a rare neurodegenerative disorder closely related to Tay-Sachs disease but of later onset and more protracted course. The biochemical defect lies in the alpha-subunit of the lysosomal enzyme beta-hexosaminidase. Culture

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7dc9216429a794f0d06f31bdd175c7b1
https://pubmed.ncbi.nlm.nih.gov/2140574

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