Zobrazeno 1 - 10
of 54
pro vyhledávání: '"S. Tzall"'
Publikováno v:
DNA and Cell Biology. 11:701-706
Genetic deficiency of acid α-glucosidase (GAA) results in glycogen storage disease type II. To investigate whether we could generate a functional recombinant human GAA protein for future enzyme replacement therapy, we subcloned the GAA cDNA into the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1381c00d88e0e12c2282c05b3302bf2
https://doi.org/10.1089/dna.1992.11.701
https://doi.org/10.1089/dna.1992.11.701
Publikováno v:
American Journal of Medical Genetics. 42:201-207
Severe combined immunodeficiency (SCID) is a heterogeneous syndrome, due to X-linked and autosomal recessive defects. A significant proportion of the autosomal recessive forms of SCID are due to mutations at the adenosine deaminase (ADA) locus. Nine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4508eadec81b99a3e76cb397605821f9
https://doi.org/10.1002/ajmg.1320420213
https://doi.org/10.1002/ajmg.1320420213
Autor:
Mark F. Mehler, M Bodkin, Nan Zhong, Kurt Hirschhorn, S. Tzall, Frank Martiniuk, R. Hirschhorn
Publikováno v:
DNA and Cell Biology. 10:681-687
The lysosomal enzyme acid alpha glucosidase (GAA) or acid maltase is deficient in glycogen storage disease type II. We sought to determine the molecular basis for the disease in an adult-onset patient, unusual for very low enzyme activity similar to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a09551aaea9bf21a2a96835ed7abd27
https://doi.org/10.1089/dna.1991.10.681
https://doi.org/10.1089/dna.1991.10.681
Autor:
Frank Martiniuk, S. Tzall
Publikováno v:
Biochemical and Biophysical Research Communications. 176:1509-1515
Genetic deficiency of acid alpha glucosidase (GAA) results in glycogen storage disease type II. A cDNA containing the complete coding region was constructed and cloned into the expression vector pSV2 and was transiently transfected into an SV40 immor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b73f7e42affc589f7c6b51e5a62fbf
https://doi.org/10.1016/0006-291x(91)90458-j
https://doi.org/10.1016/0006-291x(91)90458-j
Publikováno v:
Proceedings of the National Academy of Sciences. 87:6171-6175
We have previously characterized mutant adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) enzymes in seven children with partial ADA deficiency. Six children shared common origins, suggesting a common progenitor. However, we found evide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a8eb1c34643a8ba3a4590094a9889d
https://doi.org/10.1073/pnas.87.16.6171
https://doi.org/10.1073/pnas.87.16.6171
Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle
Publikováno v:
Australian veterinary journal. 72(8)
Northern analyses revealed normal levels of acidic alpha-glucosidase mRNA in cultured fibroblasts from a Shorthorn calf affected with glycogenosis but a gross deficiency in an affected Brahman calf. Analyses of acidic alpha-glucosidase activity, rela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249cdc855c4c240ed95d763769e04bed
https://pubmed.ncbi.nlm.nih.gov/8579563
https://pubmed.ncbi.nlm.nih.gov/8579563
Publikováno v:
American journal of human genetics. 49(3)
Infantile-onset glycogen storage disease type II, or Pompe disease, results from a genetic deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease dem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::969579c80e0273222abb46702f1e903c
https://pubmed.ncbi.nlm.nih.gov/1652892
https://pubmed.ncbi.nlm.nih.gov/1652892
Publikováno v:
DNA and cell biology. 10(4)
Genetic deficiency of acid alpha glucosidase (GAA) results in glycogen storage disease type II. To study the disease at the molecular level, we have previously isolated and sequenced the cDNA (3.6 kb) for human GAA. We have now isolated the structura
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51434f044cd0643e1e56aa7f7fc950a9
https://pubmed.ncbi.nlm.nih.gov/1674202
https://pubmed.ncbi.nlm.nih.gov/1674202
Publikováno v:
Nucleic acids research. 19(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8104b9769059c10f8039b44ad29fc895
https://pubmed.ncbi.nlm.nih.gov/1674146
https://pubmed.ncbi.nlm.nih.gov/1674146
Autor:
Heather McFarlane, Laurie J. Ozelius, Rochelle Hirschhorn, Anil Menon, James F. Gusella, Frank Martiniuk, S. Tzall, Jonathan L. Haines
Publikováno v:
Genomics. 8(1)
We have developed a genetic linkage map of 19 markers (including nine genes) on human chromosome 17, providing 13 reference points along virtually the entire length of this chromosome. The map covers an estimated 149 cM in length (sex-averaged), with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb271fe554d92a21816121508df11574
https://pubmed.ncbi.nlm.nih.gov/2081586
https://pubmed.ncbi.nlm.nih.gov/2081586