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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Restoration of the GM2 ganglioside metabolism in bone marrow-derived stromal cells from Tay-Sachs disease animal model

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Metabolic correction in microglia derived from Sandhoff disease model mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

An inversion of 25 base pairs causes feline GM2 gangliosidosis variant.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

An inducible mouse model of late onset Tay-Sachs disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Glycosphingolipid degradation and animal models of GM2-gangliosidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Novel Tay-Sachs disease mutations from China

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

Physiological substrates for human lysosomal beta -hexosaminidase S.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.010

10.1016/J.YMGME.2008.06.010

7 January 2021

Identifiers

DOI

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22 December 2017

PubMed ID

18693054

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22 December 2017