(Q28289160)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557963%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients (English)

1 reference

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20 October 2019

1 reference

2

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20 October 2019

author name string

M Gomez-Lira

1

1 reference

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20 October 2019

M Mottes

3

1 reference

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20 October 2019

C Perusi

4

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20 October 2019

P F Pignatti

5

1 reference

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20 October 2019

N Rizzuto

6

1 reference

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20 October 2019

A Salviati

7

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20 October 2019

language of work or name

English

0 references

publication date

1 October 1995

1 reference

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20 October 2019

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20 October 2019

volume

96

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20 October 2019

issue

4

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20 October 2019

page(s)

417-422

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Evidence for two dissimilar polypeptide chains in the beta 2 subunit of hexosaminidase

20 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

1 reference

12 December 2020

Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids

1 reference

12 December 2020

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1 reference

12 December 2020

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

1 reference

12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

12 December 2020

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

12 December 2020

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

1 reference

12 December 2020

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

1 reference

12 December 2020

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits

1 reference

12 December 2020

The lysosomal hexosaminidase isozymes.

1 reference

12 December 2020

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase

1 reference

12 December 2020

Topographical atlas of the gangliosides of the adult human brain.

1 reference

12 December 2020

Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult sandhoff disease) in French Canadians

1 reference

12 December 2020

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

1 reference

12 December 2020

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

1 reference

12 December 2020

Proteolytic processing of the pro beta chain of beta-hexosaminidase occurs at basic residues contained within an exposed disulfide loop structure

1 reference

12 December 2020

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain

1 reference

12 December 2020

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

1 reference

12 December 2020

Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00191799

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557963%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 October 2019

1053565894

0 references

1 reference

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