(Q33909489)

29 July 2017

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). (English)

1 reference

29 July 2017

1 reference

Gemma Marfany

2

0 references

author name string

Miquel Tuson

series ordinal

1

1 reference

PubMed ID

14681825

29 July 2017

Roser Gonzàlez-Duarte

series ordinal

3

1 reference

PubMed ID

14681825

29 July 2017

language of work or name

English

0 references

publication date

16 December 2003

1 reference

American Journal of Human Genetics

29 July 2017

1 reference

29 July 2017

74

1 reference

29 July 2017

128-138

1 reference

29 July 2017

1

1 reference

Retinitis pigmentosa: genes, proteins and prospects

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Ceramide kinase mediates cytokine- and calcium ionophore-induced arachidonic acid release

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Sphingosine-1-phosphate: an enigmatic signalling lipid

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

The roles of ceramide and complex sphingolipids in neuronal cell function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Ceramide regulation of apoptosis versus differentiation: a walk on a fine line. Lessons from neurobiology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

The Ceramide-centric universe of lipid-mediated cell regulation: stress encounters of the lipid kind

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Sphingosine 1-phosphate, a key cell signaling molecule

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Ceramide kinase, a novel lipid kinase. Molecular cloning and functional characterization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Update on the molecular genetics of retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Modulating sphingolipid biosynthetic pathway rescues photoreceptor degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Detecting polymorphisms and mutations in candidate genes

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181900

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease

29 October 2018

1 reference

12 December 2020

Nerve growth factor and ceramides modulate cell death in the early developing inner ear

1 reference

12 December 2020

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Programmed cell death in the developing inner ear is balanced by nerve growth factor and insulin-like growth factor I

1 reference

12 December 2020

Identifiers

DOI

10.1086/381055

1 reference

release_xowpf2iwwfa5pm23q3jor7dey4

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xowpf2iwwfa5pm23q3jor7dey4

24 November 2022

mapped directly with Wikidata item

PMCID

1181900

1 reference

29 July 2017

1 reference

PubMed ID

14681825