(Q73668909)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

Zellweger spectrum disorder

5 November 2019

main subject

1 reference

A Imamura

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

N Shimozawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Y Suzuki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Z Zhang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Tsukamoto

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Y Fujiki

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Orii

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Osumi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

N Kondo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 January 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

published in

Brain and Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

8-12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

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/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

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/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Microperoxisome distribution in the central nervous system of the rat

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900072-8

7 January 2021

10.1016/S0387-7604(99)00072-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10761827%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference