(Q44164141)

30 November 2017

Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency (English)

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lysosomal storage disease

30 November 2017

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Allison M Bradbury

1

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30 November 2017

Nancy E Morrison

2

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30 November 2017

Misako Hwang

3

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30 November 2017

Nancy R Cox

4

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30 November 2017

Henry J Baker

5

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30 November 2017

Douglas R Martin

6

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30 November 2017

23 February 2009

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Molecular Genetics and Metabolism

30 November 2017

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30 November 2017

97

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30 November 2017

1

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30 November 2017

53-59

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GM 2 Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

30 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

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.2009.01.003

GM2 gangliosidosis in a Japanese spaniel

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

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.2009.01.003

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.2009.01.003

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.2009.01.003

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.2009.01.003

Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Characterization of the murine beta-hexosaminidase (HEXB) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Neuronal GM 1 Gangliosidosis in a Siamese Cat with β-Galactosidase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Regulation of alternative splicing: more than just the ABCs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Bone marrow transplantation for lysosomal diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Adeno-associated virus vector-mediated transduction in the cat brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Lysosomal storage diseases of animals: an essay in comparative pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

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.2009.01.003

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.01.003

10.1016/J.YMGME.2009.01.003

7 January 2021

Identifiers

DOI

1 reference

release_wa5jujx2rrgcfoe2q54azoxnoi

30 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wa5jujx2rrgcfoe2q54azoxnoi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference