Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). (Q36148787)

12 August 2017

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title

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

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12 August 2017

William B Rizzo

1

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12 August 2017

Gael Carney

series ordinal

2

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12 August 2017

language of work or name

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1 July 2005

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12 August 2017

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12 August 2017

volume

26

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12 August 2017

issue

1

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12 August 2017

page(s)

1-10

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

12 August 2017

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Relationships within the aldehyde dehydrogenase extended family

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Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson syndrome

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Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome

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A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome

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Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

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

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

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Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients

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Fatty aldehyde dehydrogenase: potential role in oxidative stress protection and regulation of its gene expression by insulin

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

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

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Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients

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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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Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene

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The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold

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

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Oxidation of aldehydic products of lipid peroxidation by rat liver microsomal aldehyde dehydrogenase

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Purification and properties of a membrane-bound aldehyde dehydrogenase from rat liver microsomes

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Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis.

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

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

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Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome

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

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

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Biogenesis of microsomal aldehyde dehydrogenase in rat liver

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Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid

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Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid

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A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome

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

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7 January 2021

Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20181

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12 August 2017

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