PEX1

Summary

Gene Symbol: PEX1
Description: peroxisomal biogenesis factor 1
Alias: PBD1A, PBD1B, ZWS, ZWS1, Zellweger syndrome, peroxin-1, peroxisome biogenesis disorder protein 1, peroxisome biogenesis factor 1
Species: human

Top Publications

  1. ncbi A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p
    S Tamura
    Department of Biology, Faculty of Science, Kyushu University, Fukuoka, Japan
    Biochem Biophys Res Commun 245:883-6. 1998
  2. ncbi A novel family of longer chain length dolichols present in oleate-induced yeast Saccharomyces cerevisiae
    A Szkopinska
    Institute of Biochemistry and Biophysics PAS, ul Pawinskiego 5a, 02 106, Warsaw, Poland
    Biochimie 83:427-32. 2001
  3. ncbi Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance
    Tam Nguyen
    Cell Biology Group, Eskitis Institute for Cell and Molecular Therapies, Griffith University, 170 Kessels Road, Brisbane, Queensland 4111, Australia
    J Cell Sci 119:636-45. 2006
  4. pmc Peroxisome function regulates growth on glucose in the basidiomycete fungus Cryptococcus neoformans
    Alexander Idnurm
    Room 322 CARL Building, Box 3546, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Eukaryot Cell 6:60-72. 2007
  5. pmc Peroxisome proliferation in Arabidopsis: The challenging identification of ligand perception and downstream signaling is closer
    Jose Leon
    Instituto de Biología Molecular y Celular de Plantas CSIC UPV Ciudad Politécnica de la Innovación Valencia, Spain
    Plant Signal Behav 3:671-3. 2008
  6. ncbi Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
    H Portsteffen
    Abteilung für Zellbiochemie, Ruhr Universitat Bochum, Germany
    Nat Genet 17:449-52. 1997
  7. pmc Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction
    S Tamura
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, 6 10 1 Hakozaki, Higashi ku, Fukuoka 812 8581, Japan
    Biochem J 357:417-26. 2001
  8. ncbi PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease
    Natalie Preuss
    Department of Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    Pediatr Res 51:706-14. 2002
  9. ncbi Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms
    Megan A Maxwell
    Cell Biology Program, Eskitis Institute for Cell and Molecular Therapies, Nathan, Queensland, Australia
    Hum Mutat 26:279. 2005
  10. ncbi Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients
    Megan A Maxwell
    School of Biomolecular and Biomedical Science, Griffith University, Nathan, Queensland, Australia
    Hum Mutat 20:342-51. 2002

Research Grants

Scientific Experts

  • J A Kiel
  • Hans R Waterham
  • Yukio Fujiki
  • Mohammad R Mohebbi
  • P G Barth
  • Sven Thoms
  • Denis I Crane
  • Babett Bartling
  • S Steinberg
  • B T Poll-The
  • Yasuyuki Suzuki
  • Ronald J A Wanders
  • N Shimozawa
  • Joseph Hacia
  • Nancy Braverman
  • Non Miyata
  • Shigehiko Tamura
  • Naomi Matsumoto
  • Kumiko Shiozawa
  • S Tamura
  • Megan A Maxwell
  • C S Collins
  • Gabriele Dodt
  • Marten Veenhuis
  • Ida J van der Klei
  • Denise Dietrich
  • Yan Sun
  • Anne Koek
  • Kevin Berendse
  • Barbara C Paton
  • Hiba Komati
  • Sung Yoon Cho
  • Shino Goto
  • Fred D Mast
  • Merel S Ebberink
  • Rui Zhang
  • Narendra Duhita
  • Mikio Nishimura
  • Wing Yan Yik
  • Gadi Zipor
  • Jose Leon
  • Tim van Zutphen
  • Hugo W Moser
  • Kazumasa Nito
  • S J Gould
  • Avraham Zeharia
  • Alexander Idnurm
  • Etonia Y T Pang
  • Tam Nguyen
  • Wei Fan
  • Satomi Furuki
  • Cécile B Brocard
  • Wayne L Charlton
  • H Rosewich
  • Astrid Kragt
  • Sabine Weller
  • Yutaka Akiyama
  • Nobuo Maita
  • Azusa Seto
  • Natsuko Goda
  • Hidekazu Hiroaki
  • E M Kurbatova
  • Toshiyuki Shimizu
  • Helen M Michelakakis
  • Kentaro Tomii
  • Masahiro Shirakawa
  • Sietske Hogenboom
  • Hyunju Cha
  • Klaas Nico Faber
  • Natalie Preuss
  • Jukka Kallijärvi
  • Xiaoming Wei
  • Lixia Wang
  • Lodewijk IJlst
  • Yun Yang
  • Zhangzhang Lan
  • Xin Yi
  • Ning Qu
  • Wei Wang
  • Qian Zhu
  • Yuxing Chu
  • Frank Essmann
  • Yuhui Wang
  • Yu Liang
  • Shuang Yang
  • Florian Seiler
  • A Szkopinska
  • Kanji Okumoto
  • Satoru Mukai
  • B E Reuber

Detail Information

Publications80

  1. ncbi A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p
    S Tamura
    Department of Biology, Faculty of Science, Kyushu University, Fukuoka, Japan
    Biochem Biophys Res Commun 245:883-6. 1998
    Human PEX1 (HsPEX1) is the causative gene for peroxisome-deficiency disorders such as Zellweger syndrome of complementation group I, encoding the peroxin, Pex1p, a member of AAA family...
  2. ncbi A novel family of longer chain length dolichols present in oleate-induced yeast Saccharomyces cerevisiae
    A Szkopinska
    Institute of Biochemistry and Biophysics PAS, ul Pawinskiego 5a, 02 106, Warsaw, Poland
    Biochimie 83:427-32. 2001
    ..This phenomenon is abolished in the peroxisome biogenesis deficient strain in which the PEX1 gene (encoding Pex1p peroxin) has been disrupted...
  3. ncbi Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance
    Tam Nguyen
    Cell Biology Group, Eskitis Institute for Cell and Molecular Therapies, Griffith University, 170 Kessels Road, Brisbane, Queensland 4111, Australia
    J Cell Sci 119:636-45. 2006
    ..from a subset of the clinically severe peroxisomal disorders that includes the biogenesis disorder Zellweger syndrome and the single-enzyme defect D-bifunctional protein (D-BP) deficiency, are enlarged and significantly less ..
  4. pmc Peroxisome function regulates growth on glucose in the basidiomycete fungus Cryptococcus neoformans
    Alexander Idnurm
    Room 322 CARL Building, Box 3546, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Eukaryot Cell 6:60-72. 2007
    ..in which the glyoxylate pathway enzymes are localized in many organisms, was examined by mutation of two genes (PEX1 and PEX6) encoding AAA (ATPases associated with various cellular activities)-type proteins required for peroxisome ..
  5. pmc Peroxisome proliferation in Arabidopsis: The challenging identification of ligand perception and downstream signaling is closer
    Jose Leon
    Instituto de Biología Molecular y Celular de Plantas CSIC UPV Ciudad Politécnica de la Innovación Valencia, Spain
    Plant Signal Behav 3:671-3. 2008
    ..Besides, wounding activated the expression of the peroxisome biogenesis-related PEX1 and PEX14 genes, but not of PEX11 or DRP3A, which analogously to mammals, code for the main regulators of ..
  6. ncbi Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
    H Portsteffen
    Abteilung für Zellbiochemie, Ruhr Universitat Bochum, Germany
    Nat Genet 17:449-52. 1997
    ..These lethal diseases include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum's disease (IRD), three phenotypes now ..
  7. pmc Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction
    S Tamura
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, 6 10 1 Hakozaki, Higashi ku, Fukuoka 812 8581, Japan
    Biochem J 357:417-26. 2001
    The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD) and infantile Refsum disease (IRD), are fatal autosomal recessive diseases caused by impaired peroxisome biogenesis, of ..
  8. ncbi PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease
    Natalie Preuss
    Department of Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    Pediatr Res 51:706-14. 2002
    ..Mutations in the PEX1 gene encoding a member of the AAA protein family of ATPases are responsible for the defects in this group, and a ..
  9. ncbi Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms
    Megan A Maxwell
    Cell Biology Program, Eskitis Institute for Cell and Molecular Therapies, Nathan, Queensland, Australia
    Hum Mutat 26:279. 2005
    b>Zellweger syndrome and its milder variants--neonatal adrenoleukodystrophy and infantile Refsum disease--comprise a clinical continuum of diseases referred to as the Zellweger spectrum...
  10. ncbi Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients
    Megan A Maxwell
    School of Biomolecular and Biomedical Science, Griffith University, Nathan, Queensland, Australia
    Hum Mutat 20:342-51. 2002
    ..A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD)...
  11. ncbi PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
    Denis I Crane
    Cell Biology Group, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Australia
    Hum Mutat 26:167-75. 2005
    ..The Zellweger spectrum represents a clinical continuum, with Zellweger syndrome (ZS) having the most severe phenotype, and neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease ..
  12. pmc Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I
    S Tamura
    Department of Biology, Faculty of Science, Kyushu University, Fukuoka 812 81, Japan
    Proc Natl Acad Sci U S A 95:4350-5. 1998
    The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD), are autosomal recessive diseases caused by defects in peroxisome assembly, for which at least 10 complementation ..
  13. pmc Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations
    H Rosewich
    Department of Paediatrics and Paediatric Neurology, Georg August University, Robert Koch Strasse 40, 37075 Gottingen, Germany
    J Med Genet 42:e58. 2005
    To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum.
  14. ncbi Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
    B E Reuber
    Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 17:445-8. 1997
    ..We identified the human orthologue of yeast PEX1, a gene required for peroxisomal matrix protein import...
  15. pmc Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders
    Wing Yan Yik
    Department of Biochemistry and Molecular Biology, University of Southern California, Los Angeles, California, USA
    Hum Mutat 30:E467-80. 2009
    ..Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS)...
  16. doi 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
    Yukio Fujiki
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
    Biochem Soc Trans 36:109-13. 2008
    ..peroxisomes in humans is highlighted by peroxisome-deficient PBDs (peroxisome biogenesis disorders), such as Zellweger syndrome. Two AAA (ATPase associated with various cellular activities) peroxins, Pex1p and Pex6p, are encoded by PEX1 ..
  17. ncbi Functional classification of Arabidopsis peroxisome biogenesis factors proposed from analyses of knockdown mutants
    Kazumasa Nito
    Department of Cell Biology, National Institute for Basic Biology, Okazaki, 444 8585 Japan
    Plant Cell Physiol 48:763-74. 2007
    ..The results indicated that the function of these PEX genes could be divided into two groups. One group involves PEX1, PEX2, PEX4, PEX6, PEX10, PEX12 and PEX13 together with previously characterized PEX5, PEX7 and PEX14...
  18. ncbi NVL: a new member of the AAA family of ATPases localized to the nucleus
    E L Germain-Lee
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Genomics 44:22-34. 1997
    ..1993, Biochimie 75:209-224). NVL was isolated by degenerate PCR using oligonucleotides corresponding to the yeast PEX1 gene, which is necessary for peroxisomal biogenesis. Two cDNAs, designated NVL.1 and NVL...
  19. ncbi Non-coordinate expression of peroxisome biogenesis, beta-oxidation and glyoxylate cycle genes in mature Arabidopsis plants
    Wayne L Charlton
    Centre for Plant Sciences, University of Leeds, Leeds, LS2 9JT, UK
    Plant Cell Rep 23:647-53. 2005
    ..b>PEX1 and 3-ketoacyl thiolase (PED1) were expressed in roots, mature leaves, stems and flowers...
  20. pmc Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
    Kevin Berendse
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 8:138. 2013
    ..We have studied if the function of mutant PEX1, PEX6 and PEX12 can be improved by promoting protein folding using the chemical chaperone arginine.
  21. ncbi [Isolation and primary identification of methylotrophic yeast Hansenula polymorpha mutants for peroxisome biogenesis]
    E M Kurbatova
    Genetika 40:592-8. 2004
    ..pex10 mutants (4 ts mutants among them); group 2 included 19 mutants that failed to complement other pex testers: 1 pex1; 2 pex4 (1 ts); 6 pex5 (5 ts); 3 pex8; 6 (3ts)- pex19; group 3 contained 22 "multiple" mutants...
  22. ncbi A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif
    Wei Fan
    Graduate School of Systems Life Sciences, Kyushu University, Fukuoka, Japan
    Biochem Biophys Res Commun 345:1434-9. 2006
    ..b>PEX1 expression complemented the mutant phenotype of ZPEG252...
  23. doi Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant
    Mohammad R Mohebbi
    Siouxland Medical Education Foundation University of Iowa, Sioux City, IA 51104, USA
    J Child Neurol 27:1589-92. 2012
    b>Zellweger syndrome (cerebrohepatorenal syndrome) is very rare and is the most severe form of peroxisomal biogenesis disorders...
  24. doi Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing
    Yan Sun
    BGI Shenzhen, Shenzhen, China
    Clin Chim Acta 417:57-61. 2013
    ..b>Zellweger syndrome (ZS) is the most common and severe phenotype in the heterogeneous ZSD...
  25. doi Identification of the kinesin KifC3 as a new player for positioning of peroxisomes and other organelles in mammalian cells
    Denise Dietrich
    Interfaculty Institute of Biochemistry, Cell Biochemistry, University of Tuebingen, D 72076 Tuebingen, Germany
    Biochim Biophys Acta 1833:3013-24. 2013
    ..KifC3, belonging to the group of C-terminal kinesins, has been identified to interact with the human peroxin PEX1 in a yeast two-hybrid screen. We investigated the potential involvement of KifC3 in peroxisomal transport...
  26. ncbi PEX1 deficiency presenting as Leber congenital amaurosis
    Helen M Michelakakis
    Institute of Child Health, Athens, Greece
    Pediatr Neurol 31:146-9. 2004
    ....
  27. pmc Mammalian single-stranded DNA binding protein UP I is derived from the hnRNP core protein A1
    S Riva
    EMBO J 5:2267-73. 1986
    ..antibodies, a cDNA clone (pRP10) was isolated from a human liver cDNA library in plasmid expression vector pEX1. By DNA sequencing this clone was shown to encode in its 949 bp insert the last 72 carboxy terminal amino acids of ..
  28. pmc Cloning of the human cDNA for the U1 RNA-associated 70K protein
    H Theissen
    EMBO J 5:3209-17. 1986
    ..wt 70 kd designated 70K, from a human liver cDNA library constructed in the expression vector pEX1. The cro-beta-galactosidase-70K fusion protein reacted with various anti-RNP patient sera, a rabbit anti-70K ..
  29. pmc Human ribophorins I and II: the primary structure and membrane topology of two highly conserved rough endoplasmic reticulum-specific glycoproteins
    C Crimaudo
    EMBO J 6:75-82. 1987
    ..cDNA clones encoding ribophorins I and II using probes derived from a human liver expression library cloned into pEX1. The authenticity of the clones was verified by overlaps in the protein sequence of N-terminal and several internal ..
  30. ncbi Repeating structure of chick tropoelastin revealed by complementary DNA cloning
    G M Bressan
    Biochemistry 26:1497-503. 1987
    A cDNA library was constructed from chick aorta poly(adenylic acid)-containing RNA in the expression vector pEX1. Several clones were identified by screening the library with a polyclonal antiserum raised against chick tropoelastin and ..
  31. pmc Mutants of the yeast Yarrowia lipolytica defective in protein exit from the endoplasmic reticulum are also defective in peroxisome biogenesis
    V I Titorenko
    Department of Cell Biology and Anatomy, University of Alberta, Edmonton, Canada
    Mol Cell Biol 18:2789-803. 1998
    ..Mutations in the PEX1 and PEX6 genes, which encode members of the AAA family of N-ethylmaleimide-sensitive fusion protein-like ATPases, ..
  32. ncbi Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p
    Shigehiko Tamura
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
    J Biol Chem 281:27693-704. 2006
    Two AAA peroxins, Pex1p and Pex6p, are encoded by PEX1 and PEX6, the causal genes for peroxisome biogenesis disorders of complementation group 1 (CG1) and CG4, respectively...
  33. pmc Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export
    Non Miyata
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Higashi ku, Fukuoka, Japan
    Mol Cell Biol 25:10822-32. 2005
    ..In contrast, (35)S-Pex5 was imported into the peroxisome remnants of PEX1-, PEX6-, and PEX26-defective cell mutants, including those from patients with peroxisome biogenesis disorders, from ..
  34. ncbi Pex14 is the sole component of the peroxisomal translocon that is required for pexophagy
    Tim van Zutphen
    Molecular Cell Biology, University of Groningen, Haren, The Netherlands
    Autophagy 4:63-6. 2008
    ..Previously we showed that Pex1, Pex4, Pex6 and Pex8 are not required for this process...
  35. ncbi A comparative study of peroxisomal structures in Hansenula polymorpha pex mutants
    Anne Koek
    Laboratory of Eukaryotic Microbiology, Groningen Biomolecular Sciences and Biotechnology Institute GBB, University of Groningen, Haren, The Netherlands
    FEMS Yeast Res 7:1126-33. 2007
    ..a systematic study of the morphology of peroxisome remnants ('ghosts') in Hansenula polymorpha pex mutants (pex1-pex20) and the level of peroxins and matrix proteins in these strains. To this end, all available H...
  36. ncbi Identification of PFTAIRE protein kinase 1, a novel cell division cycle-2 related gene, in the motile phenotype of hepatocellular carcinoma cells
    Etonia Y T Pang
    Li Ka Shing Institute of Health, The Chinese University of Hong Kong, Shatin, N T, Hong Kong, China
    Hepatology 46:436-45. 2007
    ..mapping analysis highlighted 7 candidates, namely PFTAIRE protein kinase 1 (PFTK1), ODAG, CDK6, CAS1, PEX1, SLC25A, and PEG10, within the region...
  37. ncbi The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
    Steven Steinberg
    Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Mol Genet Metab 83:252-63. 2004
    Peroxisome biogenesis disorders in the Zellweger syndrome spectrum (PBD-ZSS) are caused by defects in at least 12 PEX genes required for normal organelle assembly...
  38. ncbi 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
    Avraham Zeharia
    Day Hospitalization Unit, Schneider Children s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, Israel
    J Hum Genet 52:599-606. 2007
    ..PEX genes can cause a generalized peroxisomal biogenesis disorder with clinical phenotypes ranging from Zellweger syndrome to infantile Refsum disease...
  39. ncbi Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7
    K Naritomi
    Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan
    Hum Genet 84:79-80. 1989
    The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported...
  40. ncbi Alpha 1 chain of chick type VI collagen. The complete cDNA sequence reveals a hybrid molecule made of one short collagen and three von Willebrand factor type A-like domains
    P Bonaldo
    Divisione di Oncologia Sperimentale 2, Centro di Riferimento Oncologico, Avino, Italy
    J Biol Chem 264:5575-80. 1989
    A cDNA library constructed from chick aorta poly(A+) RNA in the expression vector pEX1 was screened with rabbit polyclonal antisera. Additional clones were obtained by DNA-DNA hybridization with subclones from the most 5'- and 3'-ends...
  41. pmc Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver
    J Houldsworth
    Division of Biology, California Institute of Technology, Pasadena 91125
    Proc Natl Acad Sci U S A 85:377-81. 1988
    ..with a bovine ADP/ATP translocase cDNA were isolated from an adult human liver cDNA library in the vector pEX1. DNA sequence analysis revealed that these clones encode two distinct forms of translocase...
  42. doi New insights into dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p in shuttling of PTS1-receptor Pex5p during peroxisome biogenesis
    Yukio Fujiki
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
    Biochim Biophys Acta 1823:145-9. 2012
    ..of peroxisomes in humans is highlighted by peroxisome-deficient peroxisome biogenesis disorders such as Zellweger syndrome. Two AAA peroxins, Pex1p and Pex6p, are encoded by PEX1 and PEX6, the causal genes for PBDs of ..
  43. doi AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase
    Non Miyata
    Department of Biology, Faculty of Sciences, Kyushu University, Fukuoka, Japan
    Traffic 13:168-83. 2012
    ..AWP1 interacted with Pex6 AAA ATPase, but not with Pex1-Pex6 complexes...
  44. ncbi Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence
    Sung Yoon Cho
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon dong, Gangnam Gu, Seoul, Korea
    Ann Clin Lab Sci 41:182-7. 2011
    ..b>Zellweger syndrome (ZS) is the most severe form of PBD and is characterized by craniofacial abnormalities, severe hypotonia, ..
  45. pmc A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders
    Fred D Mast
    Department of Cell Biology, University of Alberta, Edmonton, AB T6G 2H7, Canada
    Dis Model Mech 4:659-72. 2011
    ..cause of peroxisome biogenesis disorders and is one of the causes of the most severe form of the disease, Zellweger syndrome. Inherited mutations in Drosophila Pex1 correlate with reproducible defects during early development...
  46. pmc Arabidopsis ABERRANT PEROXISOME MORPHOLOGY9 is a peroxin that recruits the PEX1-PEX6 complex to peroxisomes
    Shino Goto
    Department of Cell Biology, National Institute for Basic Biology, Okazaki 444 8585, Japan
    Plant Cell 23:1573-87. 2011
    ..In addition, we showed that PEX1 and PEX6 comprise a heterooligomer and that this complex was recruited to peroxisomal membranes via protein-protein ..
  47. pmc ZFP260 is an inducer of cardiac hypertrophy and a nuclear mediator of endothelin-1 signaling
    Hiba Komati
    Laboratory of Cardiac Development and Differentiation, Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario K1N 6N5, Canada
    J Biol Chem 286:1508-16. 2011
    ..Here, we show that the phenylephrine-induced complex-1 (PEX1), also known as zinc finger transcription factor ZFP260, is essential for cardiomyocyte response to ET-1 as ..
  48. ncbi The MIC2 gene product: epitope mapping and structural prediction analysis define an integral membrane protein
    G S Banting
    European Molecular Biology Laboratory, Heidelberg, F R G
    Mol Immunol 26:181-8. 1989
    ..overlapping fragments of a cDNA, corresponding to the MIC2 locus, were cloned into the plasmid expression vector pEX1 (Stanley and Luzio, EMBO J. 3, 1429-1434, 1984) to produce "epitope libraries"...
  49. pmc Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds
    Rui Zhang
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 107:5569-74. 2010
    ..Nevertheless, one-half of the patients have a phenotype milder than classic Zellweger syndrome and exhibit a progressive disease course...
  50. pmc Localization of mRNAs coding for peroxisomal proteins in the yeast, Saccharomyces cerevisiae
    Gadi Zipor
    Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel
    Proc Natl Acad Sci U S A 106:19848-53. 2009
    ..Twelve mPPs (i.e., PEX1, PEX5, PEX8, PEX11-15, DCI1, NPY1, PCS60, and POX1) had a high percentage (52%-80%) of mRNA colocalization with ..
  51. doi The origin of peroxisomes: The possibility of an actinobacterial symbiosis
    Narendra Duhita
    Department of Integrative Bioscience and Biomedical Engineering, Graduate School of Science and Engineering, Waseda University, Waseda Research Park, Honjo, Saitama 367 0035, Japan
    Gene 450:18-24. 2010
    ..and its homologs, including the ER-localized CDC48, the CDC48 homologs in prokaryotes and the peroxisome-localized PEX1 and PEX6...
  52. ncbi 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
    Satomi Furuki
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
    J Biol Chem 281:1317-23. 2006
    ..CG8 is one of the most common groups and has three clinical phenotypes, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD)...
  53. pmc Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes
    K N Faber
    Department of Biology, University of California, San Diego, La Jolla 92093 0322, USA
    Mol Cell Biol 18:936-43. 1998
    ..Cells from the corresponding deletion strains (Pp delta pex1 and Pp delta pex6) contain only small vesicular remnants of peroxisomes, the bulk of peroxisomal matrix proteins is ..
  54. ncbi Study of mutant proteins with folding defects in cultured patient cells
    Gabriele Dodt
    Physiologisch Chemisches Institut, Eberhard Karls Universitat Tubingen, Germany
    Methods Mol Biol 232:165-73. 2003
  55. ncbi Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, Gifu 500 8705, Japan
    Am J Med Genet A 120:40-3. 2003
    ..They were 27 patients with Zellweger syndrome (ZS), including two sib cases, three with neonatal adrenoleukodystrophy (NALD) and one with rhizomelic type ..
  56. ncbi The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes
    Naomi Matsumoto
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
    Nat Cell Biol 5:454-60. 2003
    ..Peroxisome biogenesis disorders (PBDs), such as Zellweger syndrome and neonatal adrenoleukodystrophy, are fatal genetic diseases that are autosomal recessive...
  57. ncbi Identification of a common PEX1 mutation in Zellweger syndrome
    C S Collins
    Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Hum Mutat 14:45-53. 1999
    The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes...
  58. ncbi Hansenula polymorpha Pex1p and Pex6p are peroxisome-associated AAA proteins that functionally and physically interact
    J A Kiel
    Eukaryotic Microbiology, Groningen Biomolecular Sciences and Biotechnology Institute GBB, University of Groningen, Kerklaan 30, 9751 NN Haren, The Netherlands
    Yeast 15:1059-78. 1999
    We have cloned the Hansenula polymorpha PEX1 and PEX6 genes by functional complementation of the corresponding peroxisome-deficient (pex) mutants...
  59. ncbi Structural basis of the adaptive molecular recognition by MMP9
    Hyunju Cha
    Max Planck Institut fur Biochemie, Abteilung Strukturforschung, D 82152, Martinsried, Germany
    J Mol Biol 320:1065-79. 2002
    ..The asymmetry provides a novel mechanism of adaptive protein recognition, where different proteins (PEX9, PEX1, and TIMP1) can bind with high affinity to PEX9 at an overlapping site...
  60. ncbi Genetic and molecular analysis in the 70CD region of the third chromosome of Drosophila melanogaster
    T Burmester
    Department of Genetics, Attila Jozsef University, H 6726, Szeged, Hungary
    Gene 246:157-67. 2000
    ..The genomic sequence of the l(3)70Ca/b gene reveals a novel heat shock protein (hsc70Cb). l(3)70Da was identified as a member of the CDC48/PEX1 ATPase family and its coding sequence was determined.
  61. pmc The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder
    Jukka Kallijärvi
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, Biomedicum Helsinki, Finland
    Am J Hum Genet 70:1215-28. 2002
    ..Endogenous TRIM37 is not imported into peroxisomes in peroxin 1 (PEX1(-/-)) and peroxin 5 (PEX5(-/-)) mutant fibroblasts but is imported normally in peroxin 7 (PEX7(-/-)) ..
  62. ncbi Isolation of Penicillium chrysogenum PEX1 and PEX6 encoding AAA proteins involved in peroxisome biogenesis
    J A Kiel
    Eukaryotic Microbiology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Haren, The Netherlands
    Appl Microbiol Biotechnol 54:238-42. 2000
    ..Here we report the cloning and characterization of P. chrysogenum PEX1 and PEX6, which encode proteins of the AAA family of ATPases...
  63. ncbi Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Inherit Metab Dis 24:151-65. 2001
    ..b>Zellweger syndrome, the most severe phenotype, is characterized by hypotonia, psychomotor retardation and neuronal migration ..
  64. pmc The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import
    C S Collins
    Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Mol Cell Biol 20:7516-26. 2000
    ..mutants of the yeast Pichia pastoris but is severely reduced in pex4 and pex22 mutants and moderately reduced in pex1 and pex6 mutants...
  65. ncbi Peroxisome biogenesis and molecular defects in peroxisome assembly disorders
    Y Fujiki
    Department of Biology, Graduate School of Science, Kyushu University, Fukuoka 812 8581, Japan
    Cell Biochem Biophys 32:155-64. 2000
    ..and ZP92, respectively, and were shown to be responsible for peroxisome biogenesis disorders (PBD) such as Zellweger syndrome, of CG-F (the same as CG-X in U.S.A.) and CG-C (the same as CG-IV), respectively...
  66. ncbi Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 80:290-5. 2003
    ..we chose fibroblasts of patients with defined defects in one of four different PEX genes leading to Zellweger syndrome (PEX1, PEX5, PEX16 or PEX19)...
  67. ncbi Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
    P G Barth
    Department of Pediatric Neurology, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Neurology 62:439-44. 2004
    ..To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS)...
  68. ncbi Import of assembled PTS1 proteins into peroxisomes of the yeast Hansenula polymorpha: yes and no!
    Klaas Nico Faber
    Eukaryotic Microbiology, GBB, University of Groningen, P O Box 14, 9750 AA Haren, The Netherlands
    Biochim Biophys Acta 1591:157-162. 2002
    ..into peroxisomes after reassembly of the organelles in the temperature-sensitive peroxisome-deficient mutant pex1-6(ts) of Hansenula polymorpha shifted to permissive growth conditions...
  69. ncbi Comparative application of antibody and gene array for expression profiling in human squamous cell lung carcinoma
    Babett Bartling
    Department of Cardio Thoracic Surgery, Martin Luther University Halle Wittenberg, Halle Saale, Germany
    Lung Cancer 49:145-54. 2005
    ..regulated proteins correlate with altered mRNA expression in squamous cell lung carcinomas, including PEX1, MKK7 and HDAC3 for up-regulated proteins...
  70. pmc Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis
    Sabine Weller
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 76:987-1007. 2005
    ..membrane protein with a single C-terminal transmembrane domain and a cytosolic N-terminus that interacts with the PEX1/PEX6 heterodimer through direct binding to the latter...
  71. ncbi Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis
    Cécile B Brocard
    Department of Anatomy and Cell Biology, The University of Western Ontario, London, Ontario, Canada N6A 5C1
    Traffic 6:386-95. 2005
    ..Fusion experiments between human PEX16- and PEX1-mutant cells in the presence of nocodazol implied that microtubules were not required for import of proteins into ..
  72. ncbi The Saccharomyces cerevisiae peroxisomal import receptor Pex5p is monoubiquitinated in wild type cells
    Astrid Kragt
    Department of Medical Biochemistry, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    J Biol Chem 280:7867-74. 2005
    ..In pex1, pex4, pex6, pex15, and pex22 mutants, all of which are blocked in the terminal steps of peroxisomal matrix protein ..
  73. ncbi Crystallographic characterization of the N-terminal domain of PEX1
    Kumiko Shiozawa
    Graduate School of Integrated Science, Yokohama City University, 1 7 29 Suehiro, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Acta Crystallogr D Biol Crystallogr 60:2098-9. 2004
    ..b>PEX1 and PEX6 are hexameric AAA-type ATPases and both are necessary for the import of more than 50 peroxisomal resident ..
  74. ncbi Structure of the N-terminal domain of PEX1 AAA-ATPase. Characterization of a putative adaptor-binding domain
    Kumiko Shiozawa
    Graduate School of Integrated Science, Yokohama City University, 1 7 29 Suehiro, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    J Biol Chem 279:50060-8. 2004
    ..b>PEX1 and PEX6 are hexameric AAA-type ATPases, both of which are indispensable in targeting over 50 peroxisomal resident ..
  75. pmc Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease
    B V Geisbrecht
    Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 95:8630-5. 1998
    ..Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such ..
  76. ncbi Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease
    M R Baumgartner
    Department of Pediatrics, Hopital Necker Enfants Malades, Paris, France
    Neurology 51:1427-32. 1998
    ..Characterization of the defect in a patient presenting a peripheral neuropathy with atypical features of distal motor involvement mimicking Werdnig-Hoffmann disease...
  77. ncbi Metabolic and molecular basis of peroxisomal disorders: a review
    Ronald J A Wanders
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital, Laboratory of Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Am J Med Genet A 126:355-75. 2004
    The group of peroxisomal disorders now includes 17 different disorders with Zellweger syndrome as prototype...
  78. ncbi Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
    Bwee Tien Poll-The
    Department of Pediatrics, Emma Children s Hospital, Amsterdam, The Netherlands
    Am J Med Genet A 126:333-8. 2004
    The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD)...
  79. pmc Stress induces peroxisome biogenesis genes
    E Lopez-Huertas
    Centre for Plant Sciences, Leeds Institute for Biotechnology and Agriculture, University of Leeds, Leeds LS2 9JT, UK
    EMBO J 19:6770-7. 2000
    ..Using PEX1-LUC transgenic plants, rapid local and systemic induction of PEX1-luciferase could be demonstrated in vivo in ..

Research Grants4

  1. Mutational Analysis of Peroxisome Biogenesis Disorders
    Joseph Hacia; Fiscal Year: 2006
    ..To test our hypothesis, we will identify causative mutations in genomic DNA from patients within the Zellweger syndrome-neonatal adrenoleukodystrophy-infantile Refsum disease (ZS-NALDIRD) spectrum of PBDs and analyze their ..
  2. Screening Small Molecules for Rescue of Peroxisome Assembly Defects
    Steven Steinberg; Fiscal Year: 2007
    ..We will utilize a cell line we have engineered homozygous for the PEX1-G843D allele (rescued by all the mechanisms discussed above and the single most common cause of PBD) and ..