Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nataly Urshanski"'
Autor:
Esther Osher, Yossi Anis, Ruth Singer-Shapiro, Nataly Urshanski, Tamar Unger, Shira Albeck, Oren Bogin, Gary Weisinger, Fortune Kohen, Avi Valevski, Aviva Fattal-Valevski, Liora Sagi, Michal Weitman, Yulia Shenberger, Nadav Sagiv, Ruth Navon, Meir Wilchek, Naftali Stern
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 3, Pp 101300- (2024)
Tay-Sachs (TS) disease is a neurodegenerative disease resulting from mutations in the gene encoding the α-subunit (HEXA) of lysosomal β-hexosaminidase A (HexA). We report that (1) recombinant HEXA alone increased HexA activity and decreased GM2 con
Externí odkaz:
https://doaj.org/article/b46b268575554f2eb291b7d475a23c94
Autor:
Etty Osher, Avi Valevski, Liora Sagie, Naftali Stern, Ari Zimran, Deborah Elstein, Aviva Fattal-Valevski, Nataly Urshanski, Tally Lerman-Sagie, Nadav Sagiv, Leah Peleg, Ruth Navon
Publikováno v:
Orphanet Journal of Rare Diseases
Background Late Onset Tay- Sachs disease (LOTS) is a rare neurodegenerative lysosomal storage disease which results from mutations in the gene encoding the α subunit (HEXA) of β-hexosaminidase enzyme (HexA). At the present time, no effective treatm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153caf758484906d29c02d6b7ee487d5
https://pubmed.ncbi.nlm.nih.gov/25896637
https://pubmed.ncbi.nlm.nih.gov/25896637
Autor:
Nataly Urshanski, Sara Katzburg, Leah Peleg, Etty Osher, Avi Valevski, Ruth Navon, Ari Zimran, Aviva Fattal-Valevski, Liora Sagie, Tally Lerman-Sagie, Yifat Amir-Levi, Naftali Stern, Deborah Elstein
Publikováno v:
Molecular genetics and metabolism. 102(3)
Objective To assess whether or not pyrimethamine (PMT) can be used to enhance β-hexosaminidase A activity (HexA) in subjects with Late Onset Tay Sachs (LOTS), we studied the effect of incremental doses of PMT in vivo in 9 LOTS patients carrying the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a29c28763c692aaa7bfcda69cebeb34a
https://pubmed.ncbi.nlm.nih.gov/21185210
https://pubmed.ncbi.nlm.nih.gov/21185210