(Q35833917)

10 August 2017

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

1 reference

10 August 2017

L L Muldoon

1

1 reference

10 August 2017

E A Neuwelt

series ordinal

2

1 reference

10 August 2017

M A Pagel

series ordinal

3

1 reference

10 August 2017

D L Weiss

series ordinal

4

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 May 1994

1 reference

The American Journal of Pathology

10 August 2017

1 reference

10 August 2017

144

1 reference

10 August 2017

5

1 reference

10 August 2017

1109-1118

1 reference

A simple and very efficient method for generating cDNA libraries

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Transfer and expression of the lacZ gene in rat brain neurons mediated by herpes simplex virus mutants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Delivery of ultraviolet-inactivated 35S-herpesvirus across an osmotically modified blood-brain barrier.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Lysosomal storage diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Detection of K-ras mutations in pancreatic and hepatic neoplasms by non-isotopic mismatched polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

GM 2 Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

A model system for in vivo gene transfer into the central nervous system using an adenoviral vector.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1887364

Animal models of human ganglioside storage diseases

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8178934

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8178934

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

10 August 2017

PubMed publication ID

8178934

1 reference