The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis (Q28267776)

Europe PubMed Central

title

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis (English)

0 references

1 reference

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

3 December 2022

author name string

D. J. Mahuran

1

1 reference

Europe PubMed Central

PubMed ID

1825792

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1825792

full work available at URL

3 December 2022

language of work or name

English

0 references

publication date

22 February 1991

0 references

https://api.elsevier.com/content/article/PII:092544399190044A?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

https://api.elsevier.com/content/article/PII:092544399190044A?httpAccept=text/plain

3 December 2022

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Biochimica et Biophysica Acta

3 December 2022

published in

0 references

volume

1096

0 references

issue

2

0 references

page(s)

87-94

0 references

cites work

N-Acetyl-β-glucosaminidases in human spleen

2

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease

3 December 2022

3

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Assignment of the human gene for hexosaminidase B to chromosome 5

3 December 2022

5

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Complexing of Glycolipids and Their Transfer between Membranes by the Activator Protein for Degradation of Lysosomal Ganglioside GM2

3 December 2022

6

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Mapping of the gene coding for the human GM2 activator protein to chromosome 5

3 December 2022

7

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Isolation of a cDNA encoding the human GM2 activator protein

3 December 2022

8

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Sandhoff disease: 36 cases from Cordoba, Argentina

3 December 2022

17

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Medicina : organo de la Sociedad Argentina de Investigación Clínica

3 December 2022

18

40

55

Dodelson de Kremer

1980

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Characterization of an activating factor required for hydrolysis of Gm2 ganglioside catalyzed by hexosaminidase A

3 December 2022

20

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

3 December 2022

23

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

24

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

26

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

32

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

The subunit and polypeptide structure of hexosaminidases from human placenta

3 December 2022

34

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

3 December 2022

36

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Assembly of asparagine-linked oligosaccharides

3 December 2022

37

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

I-cell disease: Deficiency of extracellular hydrolase phosphorylation

3 December 2022

39

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Trafficking of lysosomal enzymes in normal and disease states

3 December 2022

40

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

The mannose 6-phosphate receptor and the biogenesis of lysosomes

3 December 2022

41

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Control of protein exit from the endoplasmic reticulum

3 December 2022

42

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Microtubules, membrane traffic, and cell organization

3 December 2022

43

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

46

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

49

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Protein oligomerization in the endoplasmic reticulum

3 December 2022

51

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

3 December 2022

55

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Journal of Clinical Investigation

3 December 2022

56

author name string

Neote

publication date

1990

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

58

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

60

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

66

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

3 December 2022

68

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Mutation in GM2-gangliosidosis B1 variant

3 December 2022

69

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

70

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

The classification of amino acid conservation.

3 December 2022

73

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

The importance of arginine 171 in substrate binding by Bacillus stearothermophilus lactate dehydrogenase

3 December 2022

74

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

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

3 December 2022

76

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Cloning and sequence analysis of a cDNA encoding the beta-subunit of mouse beta-hexosaminidase

3 December 2022

79

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

3 December 2022

81

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90044-A

3 December 2022

Identifiers