Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome (Q34671153)

3 August 2017

title

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

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3 August 2017

3

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Alessandro Terrinoni

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Carlo Dionisi-Vici

object named as

Carlo Dionisi-Vici

7

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author name string

Biagio Didona

1

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3 August 2017

Andrea Codispoti

2

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3 August 2017

William B Rizzo

4

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Gael Carney

5

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Giovanna Zambruno

6

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Mauro Paradisi

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Cristina Pedicelli

9

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Gerry Melino

10

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3 August 2017

publication date

1 January 2007

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Journal of Human Genetics

3 August 2017

published in

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3 August 2017

volume

52

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3 August 2017

issue

10

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3 August 2017

page(s)

865-870

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

3 August 2017

cites work

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7 July 2018

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7 July 2018

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

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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

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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

26 October 2018

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

26 October 2018

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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

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12 December 2020

Sjögren-Larsson syndrome

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12 December 2020

10.1007/S10038-007-0180-Z

Identifiers

DOI

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3 August 2017

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3 August 2017

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