The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegiaCharacterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndromeA gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenaseAldehyde dehydrogenase. Maintaining critical active site geometry at motif 8 in the class 3 enzyme.Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.Drug-metabolizing enzymes, polymorphisms and interindividual response to environmental toxicants.Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Sjögren-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.Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.Human aldehyde dehydrogenases: potential pathological, pharmacological, and toxicological impact.Large contiguous gene deletions in Sjögren-Larsson syndromeIdentification 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.Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum?Metabolism and transport of oxazaphosphorines and the clinical implications.Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Mechanistic implications of the cysteine-nicotinamide adduct in aldehyde dehydrogenase based on quantum mechanical/molecular mechanical simulationsGenetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of boneDisorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Clinical, Biochemical, and Genetic Aspects of Sjögren-Larsson Syndrome.Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.Atypical Presentation of Sjögren-Larsson Syndrome.Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome.Proton magnetic resonance spectroscopy findings and clinical effects of montelukast sodium in a case with Sjögren-Larsson syndrome.Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.Host-parasite co-metabolic activation of antitrypanosomal aminomethyl-benzoxaboroles.Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report
P2860
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P2860
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@ast
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@en
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@nl
type
label
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@ast
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@en
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@nl
prefLabel
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@ast
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@en
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@nl
P2093
P2860
P356
P1476
The molecular basis of Sjögren ...... y aldehyde dehydrogenase gene.
@en
P2093
P2860
P304
P356
10.1086/302681
P407
P577
1999-12-01T00:00:00Z