(Q24291949)

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

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

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Infantile neuronal ceroid lipofuscinosis

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transmembrane protein

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CLN6 transmembrane ER protein

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GOA release 2020-03-11

object named as

Sara E Mole

6

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author name string

Ruth B Wheeler

1

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Julie D Sharp

2

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Roger A Schultz

3

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John M Joslin

4

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Ruth E Williams

5

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language of work or name

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publication date

February 2002

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American Journal of Human Genetics

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70

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2

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537-42

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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

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