(Q24291949)

English

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

scientific article

In more languages

Statements

scholarly article

0 references

0 references

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein (English)

0 references

Infantile neuronal ceroid lipofuscinosis

0 references

transmembrane protein

0 references

CLN6 transmembrane ER protein

1 reference

GOA release 2020-03-11

object named as

Sara E Mole

6

0 references

author name string

Ruth B Wheeler

1

0 references

Julie D Sharp

2

0 references

Roger A Schultz

3

0 references

John M Joslin

4

0 references

Ruth E Williams

5

0 references

language of work or name

0 references

publication date

February 2002

0 references

American Journal of Human Genetics

0 references

70

0 references

2

0 references

537-42

0 references

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

Basic local alignment search tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

Tandem repeats finder: a program to analyze DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

A simple method for displaying the hydropathic character of a protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

6 April 2017

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

19 March 2017

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

27 September 2017

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

27 September 2017

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

27 September 2017

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

27 September 2017

Nomenclature for the description of human sequence variations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384927

29 November 2018

Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6

1 reference

https://pubmed.ncbi.nlm.nih.gov/11727201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1086%2F338708

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

0 references

PMC publication ID

0 references

PubMed publication ID

0 references

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24291949&oldid=1475329035"