(Q24602891)

2

0 references

Maia M Cherney

3

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Stephen G Withers

4

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Don J Mahuran

5

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Michael N G James

Journal of Molecular Biology

6

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language of work or name

English

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publication date

16 June 2006

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published in

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volume

359

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issue

4

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page(s)

913-29

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cites work

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GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal

7 April 2017

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Aspartate 313 in the Streptomyces plicatus hexosaminidase plays a critical role in substrate-assisted catalysis by orienting the 2-acetamido group and stabilizing the transition state

7 April 2017

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

7 April 2017

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7 April 2017

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Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A

7 April 2017

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

7 April 2017

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The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes

7 April 2017

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Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

7 April 2017

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Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase

7 April 2017

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Structural and sequence-based classification of glycoside hydrolases

7 April 2017

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Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids

7 April 2017

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An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.

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The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease

27 September 2017

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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

27 September 2017

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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

27 September 2017

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Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients

27 September 2017

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Identification of an active acidic residue in the catalytic site of beta-hexosaminidase

27 September 2017

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Processing of X-ray diffraction data collected in oscillation mode

27 September 2017

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A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside

30 May 2018

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Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts

30 May 2018

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Analysis of the glycosylation and phosphorylation of the lysosomal enzyme, beta-hexosaminidase B, by site-directed mutagenesis.

30 May 2018

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Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase

30 May 2018

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

30 May 2018

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Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses

30 May 2018

1 reference

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Retention of misfolded mutant transthyretin by the chaperone BiP/GRP78 mitigates amyloidogenesis

30 May 2018

1 reference

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Fisher's information in maximum-likelihood macromolecular crystallographic refinement.

28 November 2018

1 reference

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The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910082

Structural and functional characterization of Streptomyces plicatus beta-N-acetylhexosaminidase by comparative molecular modeling and site-directed mutagenesis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910082

Molecular genetics of Tay-Sachs disease in Japan

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910082

The fine structure of cytoplasmic inclusions in brain and other visceral organs in sandhoff disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910082

Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910082

Partial enzyme deficiencies: residual activities and the development of neurological disorders

28 November 2018

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12 December 2020

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

1 reference

12 December 2020

BenignHEXAMutations, C739T(R247W) and C745T(R249W), Cause β-Hexosaminidase A Pseudodeficiency by Reducing the α-Subunit Protein Levels

1 reference

12 December 2020

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

12 December 2020

The subunit and polypeptide structure of hexosaminidases from human placenta

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12 December 2020

Mutation in GM2-gangliosidosis B1 variant

1 reference

12 December 2020

NAG-thiazoline, An N -Acetyl-β-hexosaminidase Inhibitor That Implicates Acetamido Participation

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.JMB.2006.04.004

7 January 2021

inferred from DOI database lookup

PROCHECK: a program to check the stereochemical quality of protein structures

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.JMB.2006.04.004

7 January 2021

inferred from DOI database lookup

MOLREP: an Automated Program for Molecular Replacement

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.JMB.2006.04.004

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.JMB.2006.04.004

1 reference

1837499

1837499

1 reference

1 reference

1 reference