(Q42036408)

15 October 2017

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels (English)

1 reference

15 October 2017

8

1 reference

15 October 2017

Walter C

1

1 reference

15 October 2017

Gootjes J

2

1 reference

15 October 2017

Mooijer PA

3

1 reference

15 October 2017

Portsteffen H

4

1 reference

15 October 2017

Klein C

5

1 reference

15 October 2017

Waterham HR

6

1 reference

15 October 2017

Barth PG

7

1 reference

15 October 2017

Kunau WH

9

1 reference

15 October 2017

Wanders RJ

10

1 reference

15 October 2017

Dodt G

11

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 June 2001

1 reference

American Journal of Human Genetics

15 October 2017

1 reference

15 October 2017

69

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15 October 2017

1

1 reference

15 October 2017

35-48

1 reference

The genetics of peroxisome biogenesis

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Genotype-phenotype correlations in disorders of peroxisome biogenesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Protein misfolding and degradation in genetic diseases.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Identification of a common PEX1 mutation in Zellweger syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Peroxisomal disorders: clinical, biochemical, and molecular aspects

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Biochemistry of peroxisomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226046

Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry

17 August 2018

1 reference

12 December 2020

Lipid metabolism in peroxisomes in relation to human disease

1 reference

12 December 2020

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

1 reference

12 December 2020

Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)

1 reference

12 December 2020

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders

1 reference

12 December 2020

Biogenesis of peroxisomal proteins in vivo and in vitro

1 reference

12 December 2020

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis

1 reference

12 December 2020

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

12 December 2020

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

1 reference

12 December 2020

Identifiers

DOI

10.1086/321265

1 reference

15 October 2017

1 reference

15 October 2017

1 reference