Výsledky vyhledávání - "E F, Neufeld"

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles

Autor: K P, Menon, E F, Neufeld

Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 40(7)

Mutations in the gene encoding alpha-L-iduronidase (IDUA) are the cause of Hurler syndrome. Fibroblasts from patients homozygous for nonsense IDUA alleles have much reduced mRNA detectable by Northern analysis, as has been observed in many other inst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b2ef5b40f4bcdb9425a5a77744feb854
https://pubmed.ncbi.nlm.nih.gov/7849567

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Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

Autor: G, Bach, S M, Moskowitz, P T, Tieu, A, Matynia, E F, Neufeld

Publikováno v: American journal of human genetics. 53(2)

The mutations underlying Hurler syndrome (mucopolysaccharidosis IH) in Druze and Muslim Israeli Arab patients have been characterized. Four alleles were identified, using a combination of (a) PCR amplification of reverse-transcribed RNA or genomic DN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fe6d910d1b18cd8c9eb51ea34e1b8620
https://pubmed.ncbi.nlm.nih.gov/8328452

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Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog

Autor: L J, Stoltzfus, B, Sosa-Pineda, S M, Moskowitz, K P, Menon, B, Dlott, L, Hooper, D B, Teplow, R M, Shull, E F, Neufeld

Publikováno v: The Journal of biological chemistry. 267(10)

alpha-L-Iduronidase is a lysosomal enzyme, the deficiency of which causes mucopolysaccharidosis I (MPS I); a canine MPS I colony has been bred to test therapeutic intervention. The enzyme was purified to apparent homogeneity from canine testis and fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d751fa44daa6b4104d11faa0956837a0
https://pubmed.ncbi.nlm.nih.gov/1551868

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Attempted enzyme replacement using human amnion membrane implantations in mucopolysaccharidoses

Autor: M. A. Zasloff, Jerry N. Thompson, J. Danoff, L. Rodén, Anita Pikus, Muriel I. Kaiser-Kupfer, G. Constantopoulos, H. D. McDonald, E. F. Neufeld, Rafael C. Caruso, J. Muenzer, R. R. Berry

Publikováno v: Journal of inherited metabolic disease. 15(1)

Amnion membrane implantation has been proposed as an approach to enzyme replacement in mucopolysaccharidoses. Human amnion membranes have been subcutaneously implanted in the abdominal wall in 19 patients with mucopolysaccharidoses (MPS I, II and III

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d158831d603346268fe62e5da17a59
https://pubmed.ncbi.nlm.nih.gov/1533888

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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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A cystic fibrosis phenotype in cells cultured from sweat gland secretory coil. Altered kinetics of 36Cl efflux

Autor: L C, Wood, E F, Neufeld

Publikováno v: The Journal of biological chemistry. 265(22)

As a step toward understanding the metabolic consequences of the cystic fibrosis (CF) mutation, we have examined the kinetics of 36Cl efflux in cells cultured from sweat glands, a tissue that is affected in the disease. Epithelial cells, derived from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5a6d9d23e6ab6a3f57bed084bffff4ef
https://pubmed.ncbi.nlm.nih.gov/2376576

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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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