(Q44638277)

4 December 2017

title

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles (English)

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4 December 2017

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3

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6

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4 December 2017

Stefania Zampieri

1

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4 December 2017

Mirella Filocamo

2

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4 December 2017

Marina Stroppiano

4

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4 December 2017

Kristian Vlahovicek

5

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4 December 2017

Eleonora Bignulin

7

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4 December 2017

Stefano Regis

8

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4 December 2017

Franco Carnevale

9

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4 December 2017

Bruno Bembi

10

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4 December 2017

Andrea Dardis

11

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4 December 2017

publication date

29 August 2008

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4 December 2017

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4 December 2017

volume

10

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4 December 2017

issue

1

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4 December 2017

page(s)

49-58

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https://scigraph.springernature.com/pub.10.1007/s10048-008-0145-1

4 December 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0145-1

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region

21 January 2018

1 reference

12 December 2020

Splicing mutation causes infantile Sandhoff disease

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).

1 reference

12 December 2020

A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

1 reference

12 December 2020

beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease

1 reference

12 December 2020

10.1007/S10048-008-0145-1

Identifiers

DOI

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4 December 2017

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