(Q38347768)

2 September 2017

title

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder (English)

1 reference

2 September 2017

9

Ronald J A Wanders

1 reference

2 September 2017

Jeannette Gootjes

1

1 reference

2 September 2017

Orly Elpeleg

2

1 reference

2 September 2017

François Eyskens

3

1 reference

2 September 2017

Hanna Mandel

4

1 reference

2 September 2017

Delphine Mitanchez

5

1 reference

2 September 2017

Noboyuki Shimozawa

6

1 reference

2 September 2017

Yasuyuki Suzuki

7

1 reference

2 September 2017

Hans R Waterham

8

1 reference

2 September 2017

language of work or name

English

0 references

publication date

19 November 2003

1 reference

2 September 2017

1 reference

2 September 2017

volume

55

1 reference

2 September 2017

issue

3

1 reference

2 September 2017

page(s)

431-436

1 reference

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000106862.83469.8d

2 September 2017

exact match

0 references

cites work

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Peroxisome biogenesis disorders: genetics and cell biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Protein translocation into peroxisomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Quantitative analysis of peroxisomal protein import in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Transmembrane topology of the peroxin, Pex2p, an essential component for the peroxisome assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Characterization of the mammalian peroxisomal import machinery: Pex2p, Pex5p, Pex12p, and Pex14p are subunits of the same protein assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Biochemical markers predicting survival in peroxisome biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Peroxisome assembly factor 1: nonsense mutation in a peroxisome-deficient Chinese hamster ovary cell mutant and deletion analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000106862.83469.8D

10.1203/01.PDR.0000106862.83469.8D

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

2 September 2017

1047923169

0 references

1 reference