Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
نویسندگان
چکیده
منابع مشابه
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
Peroxisome biogenesis disorders (PBD), such as Zellweger syndrome, are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as a malfunction of the peroxisomes, where at least 10 genotypes have been reported. We have isolated a human PEX10 cDNA (HsPEX10) by an expressed sequence tag homology search on a human DNA database using yeast PEX10 from Hansenula polymorpha...
متن کاملAnimal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.
Generalized peroxisome-deficient disorders including cerebro-hepato-renal Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease are autosomal recessive diseases, where catalase-containing particles (peroxisomes) are morphologically absent. We previously isolated two Chinese hamster ovary (CHO) cell mutants (Z24 and Z65) that resemble the fibroblasts from patients with ...
متن کاملNonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal ...
متن کاملfaculty of psychology and social sciences group of anthropology master thesis in major of anthropology
چکیده پایان نامه (شامل خلاصه، اهداف، روش های اجرا و نتایج به دست آمده): کار جمع آوری گو یش های محلی در سال های اخیر شتاب امیدوار کننده ای به خود گرفته است. شاید از بارزترین اهداف جمع آوری گویش های مختلف، ثبت و ضبط آن، جلوگیری از نابودی و مهمتر از همه حل مشکلات دستوری زبان رسمی باشد. دقت در فرآیند های زبانی گویش های محلی نوع ارتباط مردم نواحی مختلف با پیرامون نشان را به ما نشان خواهد داد. از س...
Isolation and Characterization of a New Peroxisome Deficient CHO Mutant Cell Belonging to Complementation Group 12
We searched for novel Chinese hamster ovary (CHO) cell mutants defective in peroxisome biogenesis by an improved method using peroxisome targeting sequence (PTS) of Pex3p (amino acid residues 1–40)-fused enhanced green fluorescent protein (EGFP). From mutagenized TKaEG3(1–40) cells, the wild-type CHO-K1 stably expressing rat Pex2p and of rat Pex3p(1–40)-EGFP, numerous cell colonies resistant to...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1998
ISSN: 1460-2083
DOI: 10.1093/hmg/7.9.1399