(Q34671153)

3 August 2017

title

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome (English)

1 reference

3 August 2017

3

1 reference

3 August 2017

Alessandro Terrinoni

11

0 references

Carlo Dionisi-Vici

object named as

Carlo Dionisi-Vici

7

0 references

author name string

Biagio Didona

1

1 reference

3 August 2017

Andrea Codispoti

2

1 reference

3 August 2017

William B Rizzo

4

1 reference

3 August 2017

Gael Carney

5

1 reference

3 August 2017

Giovanna Zambruno

6

1 reference

3 August 2017

Mauro Paradisi

8

1 reference

3 August 2017

Cristina Pedicelli

9

1 reference

3 August 2017

Gerry Melino

10

1 reference

3 August 2017

publication date

1 January 2007

1 reference

Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

52

1 reference

3 August 2017

issue

10

1 reference

3 August 2017

page(s)

865-870

1 reference

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Aldehyde dehydrogenase. Maintaining critical active site geometry at motif 8 in the class 3 enzyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff's base modification of phospholipids: implications for Sj-ogren-Larsson syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Ultrastructural study of the skin in Sjögren-Larsson syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Diagnosing Sjögren-Larsson syndrome in a 7-year-old Moroccan boy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3057174

Beyond the catalytic core of ALDH: a web of important residues begins to emerge

26 October 2018

1 reference

12 December 2020

Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome

1 reference

12 December 2020

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome

1 reference

12 December 2020

Some properties of the fatty alcohol oxidation system and reconstitution of microsomal oxidation activity in intestinal mucosa

1 reference

12 December 2020

Sjögren-Larsson syndrome

1 reference

12 December 2020

10.1007/S10038-007-0180-Z

Identifiers

DOI

1 reference

3 August 2017

1 reference

3 August 2017

1 reference