(Q74826605)

English

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata

scientific article published on 01 June 1998

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686383%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686383%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

rhizomelic chondrodysplasia punctata

1 reference

based on heuristic

inferred from title

Zellweger syndrome

1 reference

based on heuristic

inferred from title

author name string

R J Wanders

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686383%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

G J Romeijn

2

1 reference

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13 November 2019

publication date

1 June 1998

1 reference

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13 November 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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13 November 2019

21

1 reference

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13 November 2019

309-312

1 reference

Europe PubMed Central

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13 November 2019

3

1 reference

Europe PubMed Central

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13 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005353129761

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/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl-coenzyme A reductase is present in peroxisomes in normal rat liver cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell compartmentalization of cholesterol biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

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/9686383

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/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomes: Organelles at the crossroads

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mevalonate kinase is localized in rat liver peroxisomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl coenzyme A reductase localization in rat liver peroxisomes and microsomes of control and cholestyramine-treated animals: quantitative biochemical and immunoelectron microscopical analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005353129761

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686383%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686383%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

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