Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
about
Identification of PEX7 as the second gene involved in Refsum diseasePeroxisomes in brain development and functionCrystal structure of peroxisomal targeting signal-2 bound to its receptor complex Pex7p-Pex21pAlkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient miceHomeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.The neurology of rhizomelic chondrodysplasia punctata.Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutationsStructural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.Metabolic and molecular aspects of ethanolamine phospholipid biosynthesis: the role of CTP:phosphoethanolamine cytidylyltransferase (Pcyt2).Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.Peroxisomal ACBD4 interacts with VAPB and promotes ER-peroxisome associations.A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.Peroxisome biogenesis disorders.PEX7 binds cargo proteins containing PTS2Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeDisorders of Keratinization
P2860
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P2860
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Mutational spectrum in the PEX ...... ndrodysplasia punctata type 1.
@en
type
label
Mutational spectrum in the PEX ...... ndrodysplasia punctata type 1.
@en
prefLabel
Mutational spectrum in the PEX ...... ndrodysplasia punctata type 1.
@en
P2093
P2860
P356
P1476
Mutational spectrum in the PEX ...... ndrodysplasia punctata type 1.
@en
P2093
Alison M Motley
Eveline Hogenhout
Hans R Waterham
Henk F Tabak
Janet Haasjes
Lisya Gerez
P2860
P304
P356
10.1086/338998
P407
P577
2002-01-07T00:00:00Z