Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
about
Dual subcellular localization in the endoplasmic reticulum and peroxisomes and a vital role in protecting against oxidative stress of fatty aldehyde dehydrogenase are achieved by alternative splicingMutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndromeTwo new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.Widespread occurrence of glyceryl ether monooxygenase activity in rat tissues detected by a novel assayPeroxisomes in brain development and functionProteomic analysis of the yeast mitochondrial outer membrane reveals accumulation of a subclass of preproteinsSpectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndromeFatty aldehydes in cyanobacteria are a metabolically flexible precursor for a diversity of biofuel productsMolecular characterization of the fatty alcohol oxidation pathway for wax-ester mobilization in germinated jojoba seedsNeuroimaging of lipid storage disorders.Genetic epidemiology of environmental toxicity and cancer susceptibility: human allelic polymorphisms in drug-metabolizing enzyme genes, their functional importance, and nomenclature issues.Sjögren-Larsson syndrome: A study of clinical symptoms in six children.Pure hereditary spastic paraplegia.Development of selective inhibitors for human aldehyde dehydrogenase 3A1 (ALDH3A1) for the enhancement of cyclophosphamide cytotoxicity.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Harlequin ichthyosis unmasked: a defect of lipid transport.Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.Aldehyde dehydrogenases: from eye crystallins to metabolic disease and cancer stem cellsThe molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.The genetics of human skin disease.Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.Severe hypoxia exerts parallel and cell-specific regulation of gene expression and alternative splicing in human mesenchymal stem cells.Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanalSjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.Epithelial barrier function: assembly and structural features of the cornified cell envelope.The role of fatty aldehyde dehydrogenase in epidermal structure and function.Human aldehyde dehydrogenases: potential pathological, pharmacological, and toxicological impact.Large contiguous gene deletions in Sjögren-Larsson syndromeA novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formationIdentification of 4-Trimethylaminobutyraldehyde Dehydrogenase (TMABA-DH) as a Candidate Serum Autoantibody Target for Kawasaki Disease.Role of human aldehyde dehydrogenases in endobiotic and xenobiotic metabolism.Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.Exon/intron structure of aldehyde dehydrogenase genes supports the "introns-late" theory.Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family.Involvement of enzymes other than CYPs in the oxidative metabolism of xenobiotics.Aldehyde metabolism in the cardiovascular system.Aldehyde dehydrogenase 3 converts farnesal into farnesoic acid in the corpora allata of mosquitoes.
P2860
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P2860
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@ast
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en-gb
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@nl
type
label
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@ast
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en-gb
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@nl
prefLabel
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@ast
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en-gb
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@nl
P2093
P356
P1433
P1476
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
@en
P2093
D J Hamrock
G R Rogers
J G Compton
L N Marekov
P M Steinert
V De Laurenzi
P2888
P356
10.1038/NG0196-52
P407
P577
1996-01-01T00:00:00Z
P5875
P6179
1014624587