(Q42752422)

English

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

scientific article published on 11 March 2014

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

1 reference

based on heuristic

inferred from title

Martin S. Taylor

6

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

object named as

Mark T Handley

1

0 references

object named as

Ian J Jackson

7

0 references

object named as

Alison M Meynert

3

0 references

André Mégarbané

object named as

André Mégarbané

2

0 references

author name string

Stephen Brown

4

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

Elisabeth Freyer

5

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

Irene A Aligianis

8

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

publication date

11 March 2014

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

Molecular genetics & genomic medicine

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

2

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

4

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

319-325

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Lipid droplets and cellular lipid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Metabolic cutis laxa syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Altered lipid droplet dynamics in hepatocytes lacking triacylglycerol hydrolase expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

The hereditary spastic paraplegia protein spartin localises to mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

27 May 2018

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

16 August 2018

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

16 August 2018

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

16 August 2018

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113272

3 November 2018

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FMGG3.70

21 January 2018

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/25077174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/25077174

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/MGG3.70

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

6 November 2017

ResearchGate publication ID

0 references

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