(Q77929992)

English

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

scientific article published on 01 May 1999

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

R J Wanders

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

P A Mooijer

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

C Dekker

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Y Suzuki

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

N Shimozawa

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 May 1999

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

314-318

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384395%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

https://scigraph.springernature.com/pub.10.1023/a:1005504104541

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential protein import deficiencies in human peroxisome assembly disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384395

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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