(Q39638543)

13 September 2017

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder (English)

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13 September 2017

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5

Ronald J A Wanders

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13 September 2017

Merel S Ebberink

1

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13 September 2017

Petra A W Mooijer

2

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13 September 2017

Jeannette Gootjes

3

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13 September 2017

Janet Koster

4

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13 September 2017

Hans R Waterham

6

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13 September 2017

language of work or name

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1 January 2011

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13 September 2017

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13 September 2017

32

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13 September 2017

1

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13 September 2017

59-69

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Pex14p, more than just a docking protein

13 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

Peroxisome biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import

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https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p

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https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

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/10.1002%2FHUMU.21388

7 January 2021

Identification of a novel PEX14 mutation in Zellweger syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

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/10.1002%2FHUMU.21388

7 January 2021

Rational diagnostic strategy for Zellweger syndrome spectrum patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

PEX12 encodes an integral membrane protein of peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

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/10.1002%2FHUMU.21388

7 January 2021

Pex2 and pex12 function as protein-ubiquitin ligases in peroxisomal protein import

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

The peroxisomal protein import machinery.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Peroxisome synthesis in the absence of preexisting peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

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/10.1002%2FHUMU.21388

7 January 2021

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Biochemistry of mammalian peroxisomes revisited

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

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/10.1002%2FHUMU.21388

7 January 2021

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

A lethal defect of mitochondrial and peroxisomal fission

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21388

7 January 2021

Identifiers

DOI

10.1002/HUMU.21388

1 reference

13 September 2017

1 reference