(Q55989778)

2

0 references

F Roels

3

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M Espeel

4

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M Ruiz

5

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A Moser

6

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H W Moser

7

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R J Wanders

8

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C Pavia

9

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J Conill

10

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A Aracil

11

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L Amat

12

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T Pampols

Journal of Child Neurology

13

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language of work or name

English

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publication date

July 1999

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published in

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volume

14

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issue

7

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page(s)

434-9

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cites work

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

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

PEX12 encodes an integral membrane protein of peroxisomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

Docosahexaenoic acid--a new therapeutic approach to peroxisomal-disorder patients: experience with two cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901400705