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1 jirimycin, was evaluated in a mouse model of Tay-Sachs disease.
2 ain at a level reported to be therapeutic in Tay-Sachs disease.
3 ng in the severe neurodegenerative disorder, Tay-Sachs disease.
4 osomal storage disorders, namely Gaucher and Tay-Sachs disease.
5 in tissues of an asymptomatic mouse model of Tay-Sachs disease, a severe human gangliosidosis, indica
6                                              Tay-Sachs disease, an inborn lysosomal disease featuring
7 scue in human cell models of Batten disease, Tay-Sachs disease and cystic fibrosis.
8 erent lysosomal storage disorders, including Tay-Sachs disease and Gaucher disease, can be accounted
9 r deficiency (also known as the AB variant), Tay-Sachs disease, and Sandhoff disease are the major fo
10 an GM1 gangliosidosis, Sandhoff disease, and Tay-Sachs disease brains.
11                                        Thus, Tay-Sachs disease can be caused by the deficiency of eit
12 ed for hexosaminidase A, which is mutated in Tay Sachs disease, for protein palmitoylthioesterase-1,
13  and leukocytes from patients with infantile Tay-Sachs disease, including a patient with thermolabile
14                                              Tay-Sachs disease is an inborn lysosomal disease charact
15 ects in GM2-AP result in an atypical form of Tay-Sachs disease known as variant AB GM2 gangliosidosis
16 e geographic distribution of the two primary Tay-Sachs disease mutations, with the first being more c
17  HEXA message in lymphoblasts derived from a Tay-Sachs disease patient homozygous for the common fram
18            Furthermore, as loss of GM2-AP in Tay-Sachs disease prevents degradation of GM2 gangliosid
19              The mouse model of human type B Tay-Sachs disease recently engineered by the targeted di
20 isease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to ins
21 e, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and the GM2 activat
22 ociated with the development of another LSD, Tay-Sachs disease, thus suggesting general applicability
23 ases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD])
24 he cystic fibrosis CFDelta508 allele and the Tay-Sachs disease TSD 1278 allele from single heterozygo
25                                              Tay-Sachs disease (TSD) is a classical glycosphingolipid
26                                              Tay-Sachs disease (TSD) is an autosomal recessive, neuro
27                                              Tay-Sachs disease (TSD) is an inherited neurological dis
28 (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD).
29 d the observed results of the mouse model of Tay-Sachs disease, we have purified mouse liver Hex A an