Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D
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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 کاملIsolation 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...
متن کاملA Novel Mutation of the PEX16 Gene in a Patient with Slowly Progressive Zellweger Syndrome
Zellweger syndrome (ZS) disorders are autosomal recessive peroxisomal biogenesis diseases mainly characterized by neonatal onset severe neurodevelopmental delay, profound hypotonia, craniofacial dysmorphism, hepatic dysfunction, polyneuropathy and loss of hearing and vision. There is a wide genetic heterogeneity that while most ZS disorders are rapidly progressive and incurable, and patients ra...
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 کاملisolation 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: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/302161