Biochemical consequences of mutations causing the GM2 gangliosidoses (Q28138411)

Biochimica et Biophysica Acta

Europe PubMed Central

title

Biochemical consequences of mutations causing the GM2 gangliosidoses (English)

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author name string

D J Mahuran

series ordinal

1

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language of work or name

English

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publication date

8 October 1999

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published in

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volume

1455

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issue

2-3

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page(s)

105-38

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cites work

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A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

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GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

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Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype

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Characterization of the affinity of the G(M2) activator protein for glycolipids by a fluorescence dequenching assay

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The chemical structure of normal human brain and Tay-Sachs gangliosides

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Identification of an altered splice site in Ashkenazi Tay-Sachs disease

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Isolation of a cDNA encoding the human GM2 activator protein

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Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene

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Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A

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Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients

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Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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Molecular genetics of Tay-Sachs disease in Japan

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Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

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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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A null allele frequent in non-Jewish Tay-Sachs patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Sandhoff disease: 36 cases from Cordoba, Argentina

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900074-5

7 January 2021

10.1016/S0925-4439(99)00074-5

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

143496

OpenCitations bibliographic resource ID

143496

1 reference