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Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case reportIdentification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functionsImmunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated proteinPurification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acidsThe human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)-dependent isocitrate dehydrogenaseMutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyIdentification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidasesFunctional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxinsA repressor complex, AP4 transcription factor and geminin, negatively regulates expression of target genes in nonneuronal cellsAlternative splicing suggests extended function of PEX26 in peroxisome biogenesis.Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disordersIdentification of PEX7 as the second gene involved in Refsum diseasePhenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disordersPEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Peroxisomes in brain development and functionAb Initio Structural Modeling of and Experimental Validation for Chlamydia trachomatis Protein CT296 Reveal Structural Similarity to Fe(II) 2-Oxoglutarate-Dependent EnzymesPex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway.Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum diseaseLocal regulation of fat metabolism in peripheral nerves.Prenatal and postnatal development of peroxisomal lipid-metabolizing pathways in the mouseDietary Variation and Evolution of Gene Copy Number among Dog BreedsAlkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomesA phosphonate-induced gene which promotes Penicillium-mediated bioconversion of cis-propenylphosphonic acid to fosfomycinAdrenoleukodystrophy and related disorders.Autosomal recessive cerebellar ataxias.mtDNA depletion confers specific gene expression profiles in human cells grown in culture and in xenograft.Structural and functional restraints on the occurrence of single amino acid variations in human proteinsComparative analysis of gene-expression patterns in human and African great ape cultured fibroblasts.PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome functionRefsum disease, peroxisomes and phytanic acid oxidation: a review.PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.Metabolic and molecular aspects of ethanolamine phospholipid biosynthesis: the role of CTP:phosphoethanolamine cytidylyltransferase (Pcyt2).Systematic review of autosomal recessive ataxias and proposal for a classification.Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII.Phytanoyl-CoA hydroxylase activity is induced by phytanic acid.Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells.Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease.Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.
P2860
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P248
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of PAHX, a Refsum disease gene
@ast
Identification of PAHX, a Refsum disease gene
@en
Identification of PAHX, a Refsum disease gene
@en-gb
Identification of PAHX, a Refsum disease gene
@nl
type
label
Identification of PAHX, a Refsum disease gene
@ast
Identification of PAHX, a Refsum disease gene
@en
Identification of PAHX, a Refsum disease gene
@en-gb
Identification of PAHX, a Refsum disease gene
@nl
prefLabel
Identification of PAHX, a Refsum disease gene
@ast
Identification of PAHX, a Refsum disease gene
@en
Identification of PAHX, a Refsum disease gene
@en-gb
Identification of PAHX, a Refsum disease gene
@nl
P2093
P2860
P921
P356
P1433
P1476
Identification of PAHX, a Refsum disease gene
@en
P2093
J C Morrell
K A Sacksteder
P A Watkins
S J Mihalik
P2860
P2888
P356
10.1038/NG1097-185
P407
P577
1997-10-01T00:00:00Z
P6179
1016759065