PEX1 by Pubmed references

2009 Yik Yik Hum. Mutat. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.[Pubmed]
2008 Yukio Fujiki Biochem. Soc. Trans. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p involved in shuttling of the PTS1 receptor Pex5p in peroxisome biogenesis.[Pubmed]
2007 Alexander Idnurm Eukaryotic Cell Peroxisome function regulates growth on glucose in the basidiomycete fungus Cryptococcus neoformans.[Pubmed]
2007 Daniel Lockshon Genetics The sensitivity of yeast mutants to oleic acid implicates the peroxisome and other processes in membrane function.[Pubmed]
2007 Kazumasa Nito Plant Cell Physiol. Functional classification of Arabidopsis peroxisome biogenesis factors proposed from analyses of knockdown mutants.[Pubmed]
2007 Avraham Zeharia J. Hum. Genet. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.[Pubmed]
2006 Wei Fan Biochem. Biophys. Res. Commun. A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif.[Pubmed]
2006 Satomi Furuki J. Biol. Chem. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.[Pubmed]
2006 Kumiko Shiozawa FEBS J. The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97.[Pubmed]
2006 Katja Rosenkranz FEBS J. Functional association of the AAA complex and the peroxisomal importomer.[Pubmed]
2006 Tam Nguyen J. Cell. Sci. Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance.[Pubmed]
2006 Shigehiko Tamura J. Biol. Chem. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p.[Pubmed]
2005 Astrid Kragt J. Biol. Chem. The Saccharomyces cerevisiae peroxisomal import receptor Pex5p is monoubiquitinated in wild type cells.[Pubmed]
2005 H Rosewich J. Med. Genet. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.[Pubmed]
2005 Non Miyata Mol. Cell. Biol. Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export.[Pubmed]
2005 Crane Crane Hum. Mutat. PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.[Pubmed]
2005 L Moser J. Inherit. Metab. Dis. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.[Pubmed]
2005 Sabine Weller Am. J. Hum. Genet. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.[Pubmed]
2005 Christopher Brocard Traffic Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis.[Pubmed]
2005 Barbara Charlton Plant Cell Rep. Non-coordinate expression of peroxisome biogenesis, beta-oxidation and glyoxylate cycle genes in mature Arabidopsis plants.[Pubmed]
2005 Silke Platta Nat. Cell Biol. Functional role of the AAA peroxins in dislocation of the cycling PTS1 receptor back to the cytosol.[Pubmed]
2005 Ingvild Birschmann FEBS J. Structural and functional analysis of the interaction of the AAA-peroxins Pex1p and Pex6p.[Pubmed]
2004 Kumiko Shiozawa Acta Crystallogr. D Biol. Crystallogr. Crystallographic characterization of the N-terminal domain of PEX1.[Pubmed]
2004 Kumiko Shiozawa J. Biol. Chem. Structure of the N-terminal domain of PEX1 AAA-ATPase. Characterization of a putative adaptor-binding domain.[Pubmed]
2004 Steven Steinberg Mol. Genet. Metab. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.[Pubmed]
2004 Jeannette Michelakakis Pediatr. Neurol. PEX1 deficiency presenting as Leber congenital amaurosis.[Pubmed]
2004 Wanders Wanders Am. J. Med. Genet. A Metabolic and molecular basis of peroxisomal disorders: a review.[Pubmed]
2004 Jeannette Poll-The Am. J. Med. Genet. A Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.[Pubmed]
2004 J Barth Neurology Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.[Pubmed]
2003 Nobuyuki Shimozawa Am. J. Med. Genet. A Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.[Pubmed]
2003 Naomi Matsumoto Nat. Cell Biol. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.[Pubmed]
2003 Jutta Gärtner Adv. Exp. Med. Biol. Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)?[Pubmed]
2003 Sietske Hogenboom Mol. Genet. Metab. Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts.[Pubmed]
2002 Jukka Kallijärvi Am. J. Hum. Genet. The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.[Pubmed]
2002 Tamara Maxwell Hum. Mutat. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.[Pubmed]
2002 Natalie Preuss Pediatr. Res. PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.[Pubmed]
2001 A Szkopinska Biochimie A novel family of longer chain length dolichols present in oleate-induced yeast Saccharomyces cerevisiae.[Pubmed]
2001 C Walter Am. J. Hum. Genet. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.[Pubmed]
2001 Y Suzuki J. Inherit. Metab. Dis. Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.[Pubmed]
2001 S Tamura Biochem. J. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.[Pubmed]
2000 M Skoneczny Biochem. J. Oxygen and haem regulate the synthesis of peroxisomal proteins: catalase A, acyl-CoA oxidase and Pex1p in the yeast Saccharomyces cerevisiae; the regulation of these proteins by oxygen is not mediated by haem.[Pubmed]
2000 A Imamura Pediatr. Res. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.[Pubmed]
2000 M Kiel Appl. Microbiol. Biotechnol. Isolation of Penicillium chrysogenum PEX1 and PEX6 encoding AAA proteins involved in peroxisome biogenesis.[Pubmed]
2000 T Matsumura J. Biol. Chem. Disruption of the interaction of the longer isoform of Pex5p, Pex5pL, with Pex7p abolishes peroxisome targeting signal type 2 protein import in mammals. Study with a novel Pex5-impaired Chinese hamster ovary cell mutant.[Pubmed]
2000 Titorenko Titorenko Cell Biochem. Biophys. Peroxisome biogenesis in the yeast Yarrowia lipolytica.[Pubmed]
2000 E Lopez-Huertas EMBO J. Stress induces peroxisome biogenesis genes.[Pubmed]
1999 Collins Collins Hum. Mutat. Identification of a common PEX1 mutation in Zellweger syndrome.[Pubmed]
1999 C Wanders J. Inherit. Metab. Dis. Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).[Pubmed]
1999 J Gärtner J. Inherit. Metab. Dis. Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.[Pubmed]
1999 S Chang J. Cell. Sci. Metabolic control of peroxisome abundance.[Pubmed]
1998 S Tamura Proc. Natl. Acad. Sci. U.S.A. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.[Pubmed]
1998 C Baumgartner Neurology Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.[Pubmed]
1998 A Imamura Hum. Mol. Genet. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.[Pubmed]
1998 S Tamura Biochem. Biophys. Res. Commun. A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p.[Pubmed]
1998 Titorenko Titorenko Mol. Cell. Biol. Mutants of the yeast Yarrowia lipolytica defective in protein exit from the endoplasmic reticulum are also defective in peroxisome biogenesis.[Pubmed]
1997 H Portsteffen Nat. Genet. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.[Pubmed]
1997 Titorenko Titorenko Mol. Cell. Biol. Four distinct secretory pathways serve protein secretion, cell surface growth, and peroxisome biogenesis in the yeast Yarrowia lipolytica.[Pubmed]
1995 P Simon Mol. Gen. Genet. A C-terminal region of the Saccharomyces cerevisiae transcription factor ADR1 plays an important role in the regulation of peroxisome proliferation by fatty acids.[Pubmed]
1994 E Heyman J. Cell Biol. Role of the PAS1 gene of Pichia pastoris in peroxisome biogenesis.[Pubmed]
1994 T Krause Yeast Effect of site-directed mutagenesis of conserved lysine residues upon Pas1 protein function in peroxisome biogenesis.[Pubmed]
0 Hum. Genet. A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.[Pubmed]