(Q28256545)

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8 November 2019

title

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

1 reference

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8 November 2019

5

1 reference

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8 November 2019

author name string

Portsteffen H

1

1 reference

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8 November 2019

Beyer A

2

1 reference

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8 November 2019

Becker E

3

1 reference

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8 November 2019

Epplen C

4

1 reference

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8 November 2019

Kunau WH

6

1 reference

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8 November 2019

Dodt G

7

1 reference

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8 November 2019

language of work or name

English

0 references

publication date

1 December 1997

1 reference

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8 November 2019

1 reference

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8 November 2019

volume

17

1 reference

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8 November 2019

issue

4

1 reference

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8 November 2019

page(s)

449-452

1 reference

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

8 November 2019

cites work

1 reference

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Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

21 January 2018

1 reference

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7 January 2021

Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

1 reference

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7 January 2021

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

7 January 2021

Two complementary approaches to study peroxisome biogenesis in Saccharomyces cerevisiae: forward and reversed genetics

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

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%2FNG1297-449

7 January 2021

Role of the PAS1 gene of Pichia pastoris in peroxisome biogenesis

1 reference

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7 January 2021

A 200‐amino acid ATPase module in search of a basic function

1 reference

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7 January 2021

Sequence analysis of the AAA protein family

1 reference

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7 January 2021

Basic local alignment search tool

1 reference

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7 January 2021

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

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%2FNG1297-449

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%2FNG1297-449

7 January 2021

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

7 January 2021

Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

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%2FNG1297-449

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%2FNG1297-449

7 January 2021

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

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%2FNG1297-449

7 January 2021

Identification of a peroxisomal targeting signal at the carboxy terminus of firefly luciferase

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-449

7 January 2021

Identifiers

DOI

10.1038/NG1297-449

2 references

Consolidated OpenCitations Corpus – April 2017

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8 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017