同: rhizomelic chondrodysplasia punctata

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1. ペルオキシソーム病 peroxisomal disorders

English Journal

Genetics and molecular basis of human peroxisome biogenesis disorders.

Waterham HR, Ebberink MS.AbstractHuman peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1. PBDs are caused by defects in any of at least 14 different PEX genes, which encode proteins involved in peroxisome assembly and proliferation. Thirteen of these genes are associated with ZSS disorders. The genetic heterogeneity among PBDs and the inability to predict from the biochemical and clinical phenotype of a patient with ZSS which of the currently known 13 PEX genes is defective, has fostered the development of different strategies to identify the causative gene defects. These include PEX cDNA transfection complementation assays followed by sequencing of the thus identified PEX genes, and a PEX gene screen in which the most frequently mutated exons of the different PEX genes are analyzed. The benefits of DNA testing for PBDs include carrier testing of relatives, early prenatal testing or preimplantation genetic diagnosis in families with a recurrence risk for ZSS disorders, and insight in genotype-phenotype correlations, which may eventually assist to improve patient management. In this review we describe the current status of genetic analysis and the molecular basis of PBDs. This article is part of a Special Issue entitled: Metabolic Functions and Biogenesis of peroxisomes in Health and Disease.
Biochimica et biophysica acta.Biochim Biophys Acta.2012 Sep;1822(9):1430-41. Epub 2012 Apr 25.
Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1. PBDs are caused by defects in any of at least
PMID 22871920

The importance of ether-phospholipids: A view from the perspective of mouse models.

da Silva TF, Sousa VF, Malheiro AR, Brites P.SourceNerve Regeneration Group, Instituto de Biologia Molecular e Celular, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.
Biochimica et biophysica acta.Biochim Biophys Acta.2012 Sep;1822(9):1501-8. Epub 2012 May 31.
Ether-phospholipids represent an important group of phospholipids characterized by an alkyl or an alkenyl bond at the sn-1 position of the glycerol backbone. Plasmalogens are the most abundant form of alkenyl-glycerophospholipids, and their synthesis requires functional peroxisomes. Defects in the b
PMID 22659211

Japanese Journal

ペルオキシソーム病RCDP患者由来線維芽細胞と同じ相補性群に属する新規CHO変異細胞の単離と解析

ガエデイカムラン,向井悟,田村茂彦,下沢伸行,藤木幸夫
日本分子生物学会年会プログラム・講演要旨集 21, 305, 1998-12-01
NAID 10002855758

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