(Q46436089)

22 December 2017

title

Spontaneous appearance of Tay-Sachs disease in an animal model (English)

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22 December 2017

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8

E H Kolodny

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22 December 2017

author name string

B J Zeng

1

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22 December 2017

P A Torres

2

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22 December 2017

T C Viner

3

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22 December 2017

Z H Wang

4

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22 December 2017

S S Raghavan

5

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22 December 2017

J Alroy

6

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22 December 2017

G M Pastores

7

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22 December 2017

publication date

9 August 2008

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22 December 2017

Molecular Genetics and Metabolism

published in

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22 December 2017

volume

95

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22 December 2017

issue

1-2

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22 December 2017

page(s)

59-65

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22 December 2017

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

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Substrate reduction therapy in the infantile form of Tay-Sachs disease

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Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease

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Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

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Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment

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Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system

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Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

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Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B GM2 gangliosidosis).

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Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

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Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

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Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis

7 January 2021

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Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

7 January 2021

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Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

7 January 2021

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Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease

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W474C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with subacute GM2 gangliosidosis

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Novel Tay-Sachs disease mutations from China

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A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family

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Physiological substrates for human lysosomal beta -hexosaminidase S.

7 January 2021

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The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

7 January 2021

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10.1016/J.YMGME.2008.06.010

7 January 2021

Identifiers

DOI

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22 December 2017

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22 December 2017