Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival (Q42957838)

11 November 2017

Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival (English)

1 reference

11 November 2017

0 references

D Joshua Cameron

1

1 reference

11 November 2017

Zongzhong Tong

2

1 reference

11 November 2017

Zhenglin Yang

3

1 reference

11 November 2017

Jack Kaminoh

4

1 reference

11 November 2017

Shin Kamiyah

5

1 reference

11 November 2017

Haoyu Chen

6

1 reference

11 November 2017

Jiexi Zeng

7

1 reference

11 November 2017

Yali Chen

8

1 reference

11 November 2017

Ling Luo

9

1 reference

11 November 2017

Kang Zhang

10

1 reference

11 November 2017

language of work or name

English

0 references

publication date

6 February 2007

1 reference

International Journal of Biological Sciences

11 November 2017

1 reference

11 November 2017

3

1 reference

11 November 2017

2

1 reference

11 November 2017

111-119

1 reference

Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

The fatty acid chain elongation system of mammalian endoplasmic reticulum

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Elovl4 mRNA distribution in the developing mouse retina and phylogenetic conservation of Elovl4 genes

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Deficiency of epidermal protein-bound omega-hydroxyceramides in atopic dermatitis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Patterned acquisition of skin barrier function during development.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1796949

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17304340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.7150/IJBS.3.111

1 reference

11 November 2017

1 reference

11 November 2017

PubMed publication ID

17304340

1 reference