A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly

Shimozawa, Nobuyuki; Tsukamoto, Tomoko; Suzuki, Yasuyuki; Orii, Tadao; Shirayoshi, Yasuaki; Mori, Takeshi; Fujiki, Yukio

doi:10.1126/science.1546315

Cited by 351 publications

(195 citation statements)

References 12 publications

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“…HEK293 cells (41) and fibroblasts from a normal control and PBD patients defective in PEX12 (42), PEX10 (43), PEX2 (44), PEX1 (45), PEX6 (46), and PEX16 (47) were cultured as described.…”

Section: Methodsmentioning

confidence: 99%

Distinct Modes of Ubiquitination of Peroxisome-targeting Signal Type 1 (PTS1) Receptor Pex5p Regulate PTS1 Protein Import

Okumoto

Noda

Fujiki

2014

Journal of Biological Chemistry

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Background: Pex5p translocates the cargo proteins into peroxisomes. Results: Mammalian RING peroxins, the Pex10p⅐Pex12p complex, catalyze Lys-linked, multiple monoubiquitination of Pex5p, assuring efficient export of Pex5p from peroxisomes. Conclusion: Distinct Lys-and Cys-linked modes of Pex5p ubiquitination control Pex5p-mediated matrix protein import. Significance: This work provides the first evidence of a functional role of mammalian RING peroxins in Pex5p ubiquitination.

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“…HEK293 cells (41) and fibroblasts from a normal control and PBD patients defective in PEX12 (42), PEX10 (43), PEX2 (44), PEX1 (45), PEX6 (46), and PEX16 (47) were cultured as described.…”

Section: Methodsmentioning

confidence: 99%

Distinct Modes of Ubiquitination of Peroxisome-targeting Signal Type 1 (PTS1) Receptor Pex5p Regulate PTS1 Protein Import

Okumoto

Noda

Fujiki

2014

Journal of Biological Chemistry

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“…Immunofluorescent microscopy of human fibroblasts was previously described (18). Human fibroblasts used in this study were from a normal, peroxisomal D-bifunctional protein deficiency patient (19) and a Zellweger syndrome patient (20).…”

Section: Methodsmentioning

confidence: 99%

Proteomic Analysis of Rat Liver Peroxisome

Kikuchi

Hatano

Yokota

et al. 2004

Journal of Biological Chemistry

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244

105

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Subcellular proteomics, which includes isolation of subcellular components prior to a proteomic analysis, is advantageous not only in characterizing large macromolecular complexes such as organelles but also in elucidating mechanisms of protein transport and organelle biosynthesis. Because of the high sensitivity achieved by the present proteomics technology, the purity of samples to be analyzed is important for the interpretation of the results obtained. In the present study, peroxisomes isolated from rat liver by usual cell fractionation were further purified by immunoisolation using a specific antibody raised against a peroxisomal membrane protein, PMP70. The isolated peroxisomes were analyzed by SDS-PAGE combined with liquid chromatography/mass spectrometry. Altogether 34 known peroxisomal proteins were identified in addition to several mitochondrial and microsomal proteins. Some of the latter may reside in the peroxisomes as well. Analysis of membrane fractions identified all known peroxins except for Pex7. Two new peroxisomal proteins of unknown function were of high abundance. One is a bi-functional protein consisting of an aminoglycoside phosphotransferase-domain and an acyl-CoA dehydrogenase domain. The other is a newly identified peroxisome-specific isoform of Lon protease, an ATP-dependent protease with chaperonelike activity. The peroxisomal localization of the protein was confirmed by immunological techniques. The peroxisome-type Lon protease, which is distinct from the mitochondrial isoform, may play an important role in the peroxisomal biogenesis.

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“…Complementation studies have shown the involvement of at least 9 different genes, each associated with impaired biogenesis of peroxisomes when mutated (Shimozawa et al 1993;Moser et al 1995). Only a few of these genes have been truly identified (Shimozawa et al 1992;Dodt et al 1995).…”

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confidence: 99%

A new peroxisomal β‐oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

Christensen

Pedersen

Leth

et al. 1997

J of Inher Metab Disea

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A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly

Cited by 351 publications

References 12 publications

Distinct Modes of Ubiquitination of Peroxisome-targeting Signal Type 1 (PTS1) Receptor Pex5p Regulate PTS1 Protein Import

Distinct Modes of Ubiquitination of Peroxisome-targeting Signal Type 1 (PTS1) Receptor Pex5p Regulate PTS1 Protein Import

Proteomic Analysis of Rat Liver Peroxisome

A new peroxisomal β‐oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

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