Peroxisome biogenesis disorders: genetics and cell biology (Q33974570)

30 July 2017

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title

Peroxisome biogenesis disorders: genetics and cell biology (English)

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30 July 2017

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Gould SJ

1

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PubMed ID

10904262

30 July 2017

Valle D

series ordinal

2

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30 July 2017

1 August 2000

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30 July 2017

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30 July 2017

16

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30 July 2017

8

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30 July 2017

340-345

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Lipid metabolism in peroxisomes in relation to human disease

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Peroxisomes in human fibroblasts have a basic pH

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Biogenesis of peroxisomes

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Protein import into peroxisomes and biogenesis of the organelle

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Peroxisome biogenesis: from yeast to man.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Peroxisome synthesis in the absence of preexisting peroxisomes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

The endoplasmic reticulum plays an essential role in peroxisome biogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Fusion of small peroxisomal vesicles in vitro reconstructs an early step in the in vivo multistep peroxisome assembly pathway of Yarrowia lipolytica

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Peroxisomes: simple in function but complex in maintenance.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Disorders of peroxisome biogenesis

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https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

The Hansenula polymorpha PER3 gene is essential for the import of PTS1 proteins into the peroxisomal matrix.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

The SH3 domain of the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import PTS1-containing proteins.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

The import receptor for the peroxisomal targeting signal 2 (PTS2) in Saccharomyces cerevisiae is encoded by the PAS7 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Identification of Pex13p a peroxisomal membrane receptor for the PTS1 recognition factor

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Mutants of the yeast Yarrowia lipolytica defective in protein exit from the endoplasmic reticulum are also defective in peroxisome biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Hansenula polymorpha Pex1p and Pex6p are peroxisome-associated AAA proteins that functionally and physically interact.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Peroxisome biogenesis: involvement of ARF and coatomer

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Giant peroxisomes in oleic acid-induced Saccharomyces cerevisiae lacking the peroxisomal membrane protein Pmp27p

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Pmp27 promotes peroxisomal proliferation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Pay32p of the yeast Yarrowia lipolytica is an intraperoxisomal component of the matrix protein translocation machinery

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

Enlarged peroxisomes are present in oleic acid-grown Yarrowia lipolytica overexpressing the PEX16 gene encoding an intraperoxisomal peripheral membrane peroxin

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2902056-4

7 January 2021

10.1016/S0168-9525(00)02056-4

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

10904262