Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders (Q24539414)

6 July 2017

title

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

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6 July 2017

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2

S J Gould

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6 July 2017

C C Chang

1

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6 July 2017

language of work or name

English

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publication date

1 November 1998

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

63

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6 July 2017

issue

5

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6 July 2017

page(s)

1294-1306

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

6 July 2017

cites work

1 reference

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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

24 March 2017

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

24 March 2017

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PEX12 encodes an integral membrane protein of peroxisomes

24 March 2017

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D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

24 March 2017

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Identification of PAHX, a Refsum disease gene

24 March 2017

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

24 March 2017

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

24 March 2017

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

24 March 2017

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

24 March 2017

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Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans

24 March 2017

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The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

24 March 2017

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

24 March 2017

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24 March 2017

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Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

24 March 2017

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A human gene responsible for Zellweger syndrome that affects peroxisome assembly

24 March 2017

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RNA-protein interactions in regulation of picornavirus RNA translation

24 March 2017

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24 March 2017

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

24 March 2017

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Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

24 March 2017

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A conserved tripeptide sorts proteins to peroxisomes

24 March 2017

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Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2.

7 April 2017

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

27 September 2017

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Protein import into peroxisomes and biogenesis of the organelle

27 September 2017

1 reference

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Internal initiation of translation

27 September 2017

1 reference

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When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

27 September 2017

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Effect of upstream reading frames on translation efficiency in simian virus 40 recombinants

27 September 2017

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Termination-reinitiation occurs in the translation of mammalian cell mRNAs

27 September 2017

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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

27 September 2017

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27 September 2017

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27 September 2017

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Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins

27 September 2017

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27 September 2017

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27 September 2017

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Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.

30 May 2018

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Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

30 May 2018

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Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377540

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

29 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/9792857

12 December 2020

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9792857

12 December 2020

inferred from PubMed ID database lookup

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9792857

12 December 2020

inferred from PubMed ID database lookup

Regulation of translation in eukaryotic systems

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302103

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302103

1 reference

6 July 2017

1 reference

6 July 2017

1 reference