YEAR |
FIRST AUTHOR |
JOURNAL |
TITLE |
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 |
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] |
2007 |
Alexander Idnurm |
Eukaryotic Cell |
Peroxisome function regulates growth on glucose in the basidiomycete fungus Cryptococcus neoformans.[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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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 |
E Lopez-Huertas |
EMBO J. |
Stress induces peroxisome biogenesis genes.[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] |
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 |
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] |
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] |
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] |
1997 |
H Portsteffen |
Nat. Genet. |
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.[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] |