Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders (Q24313301)

GOA release 2020-03-11

8

S J Gould

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author name string

B E Reuber

1

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E Germain-Lee

2

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C S Collins

3

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J C Morrell

4

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R Ameritunga

5

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H W Moser

6

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D Valle

https://scigraph.springernature.com/pub.10.1038/ng1297-445

7

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language of work or name

English

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publication date

December 1997

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published in

Nature Genetics

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volume

17

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page(s)

445-8

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issue

4

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exact match

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cites work

A conserved tripeptide sorts proteins to peroxisomes

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https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Biogenesis of peroxisomes

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

7 January 2021

A unified nomenclature for peroxisome biogenesis factors

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Protein import into peroxisomes and biogenesis of the organelle

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

7 January 2021

Role of the PAS1 gene of Pichia pastoris in peroxisome biogenesis

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Cloning and characterization of PAS5: a gene required for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Identification of PAHX, a Refsum disease gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

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/10.1038%2FNG1297-445

7 January 2021

Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-445

7 January 2021

Identifiers

DOI

10.1038/NG1297-445

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Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

2584501

1005476781

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Fatcat ID

release_gsujjrhe75bdjijngnrhopk57u

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2584501

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference