(Q52576493)

3 May 2018

title

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

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3 May 2018

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1

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Mario Sabatelli

3

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Fiorella Piemonte

5

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3 May 2018

Giulia Tozzi

object named as

Giulia Tozzi

6

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Enzo Ricci

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Enzo Ricci

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Gabriella Silvestri

object named as

Gabriella Silvestri

9

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author name string

Anna Modoni

2

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Francesca Madia

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3 May 2018

Pietro A Tonali

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publication date

23 January 2007

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3 May 2018

Molecular Genetics and Metabolism

published in

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3 May 2018

volume

91

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3 May 2018

issue

1

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3 May 2018

page(s)

111-114

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3 May 2018

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

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Biochemical consequences of mutations causing the GM2 gangliosidoses

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A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

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

7 January 2021

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Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

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Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

7 January 2021

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A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.004

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

7 January 2021

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Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes

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

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

7 January 2021

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Sorting out the complexity of SR protein functions

7 January 2021

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Predictive identification of exonic splicing enhancers in human genes

7 January 2021

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

7 January 2021

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Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

7 January 2021

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The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

7 January 2021

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Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease

7 January 2021

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

7 January 2021

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The X-ray Crystal Structure of Human β-Hexosaminidase B Provides New Insights into Sandhoff Disease

7 January 2021

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7 January 2021

Identifiers

DOI

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3 May 2018

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3 May 2018