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- W48349541 abstract "Peroxisomes are single, membrane-bound organelles present in nearly all eukaryotic cells (Lazarow and Moser 1995). The polypeptide composition of the peroxisomal membrane is distinct from that of other organelles. The peroxisome matrix has more than 50 enzymes involved in numerous metabolic pathways. Biogenesis of peroxisomes appears to proceed by import of newly synthesized proteins from the cytoplasm into existing peroxisomes, which enlarge and divide. Most peroxisomal proteins carry a peroxisomal targeting signal, PTS1 or PTS2 for matrix enzymes and mPTS for membrane proteins (Dyer et al 1996; Gould et al 1989; Swinkels et al 1991). The peroxisome biogenesis disorders (PBD) are a group of lethal autosomal-recessive diseases with overlapping phenotypes including Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease (Lazarow and Moser 1995). Failure to assemble normal peroxisomes, with the concomitant loss of multiple peroxisomal enzyme activities, is the cellular hallmark. Somatic cell fusion studies indicate that there are at least 10 complementation groups for PBDs, with complementation group (CG) 1 accounting for more than half of all PBD patients. Recently, PEXI encoding a member of the AAA protein family of ATPases was found to be the gene responsible for CG 1 (Portsteffen et al 1997; Reuber et al 1997). We report a common PEXI gene mutation, G843D, in relation to the PBD phenotype in a series of unrelated German patients in CG 1." @default.
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- W48349541 date "1999-05-01" @default.
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- W48349541 title "Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype" @default.
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- W48349541 doi "https://doi.org/10.1023/a:1005599903632" @default.
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