TAY‐SACHS DISEASE WITH VARIATIONS 来自 Semantic Scholar 喜欢 0 阅读量: 5 作者: J Cumings 摘要: PERHAPS the most striking feature of congenital anomalies of the anus and rectum is their very frequent (50-70 per cent) association with other major anomalies-chiefly those affecting the renal ...
It is now well established that the birth incidence of Tay-Sachs disease (TSD) is a hundred times higher, and the gene frequency ten times higher among Ashkenazi Jews than among other Jewish groups and non-Jewish populations (Goldschmidt et al., 1956, Kozinn et al., 1957, Myrianthopoulos,...
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety as the primary endpoint and no secondary...
Tay-Sachs disease (TSD) is a progressive heritable neurodegenerative disorder characterized by the deficiency of the lysosomal β-hexosaminidase enzyme (Hex−/−) and the storage of GM2 ganglioside, as well as other related glycoconjugates. Along with motor difficulties, TSD patients also manifest...
HexA consists of an α- and β-subunit; a deficiency in either subunit results in Tay–Sachs Disease (TSD) or Sandhoff Disease (SD), respectively. Viral vector gene transfer is viewed as a potential method of treating these diseases. A recently constructed isoenzyme to HexA, called HexM, ...
International Journal of Molecular Sciences Article Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay–Sachs Disease and Sandhoff Disease Mouse Models Shalini Kot 1,† , Subha Karumuthil-Melethil 2,†, Evan Woodley 1, Violeta Zaric 2,3, Patrick Thompson 4, ...