(Q31368357)

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Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

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Europe PubMed Central

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1 July 2017

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 July 2017

author name string

Zhang Z

1

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1 July 2017

Suzuki Y

2

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1 July 2017

Shimozawa N

3

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1 July 2017

Fukuda S

4

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1 July 2017

Imamura A

5

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1 July 2017

Tsukamoto T

6

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1 July 2017

Osumi T

7

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1 July 2017

Fujiki Y

8

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1 July 2017

Orii T

9

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1 July 2017

Wanders RJ

10

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1 July 2017

Barth PG

11

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1 July 2017

Moser HW

12

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1 July 2017

Paton BC

13

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1 July 2017

Besley GT

14

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1 July 2017

Kondo N

15

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1 July 2017

publication date

1 January 1999

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1 July 2017

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1 July 2017

13

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1 July 2017

6

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1 July 2017

487-496

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1 July 2017

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

Identification and characterization of the putative human peroxisomal C-terminal targeting signal import receptor

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

A conserved tripeptide sorts proteins to peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

Biogenesis of peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

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/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A6%3C487%3A%3AAID-HUMU9%3E3.0.CO%3B2-T

21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T

1 reference

Europe PubMed Central

PubMed publication ID

1 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 July 2017

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