(Q24307402)

English

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

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scholarly article

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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 (English)

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Peroxisomal biogenesis factor 12

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GOA release 2020-03-11

peroxisome organization

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GOA release 2020-03-11

immunofluorescence microscopy

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based on heuristic

inferred from title

peroxisomal biogenesis disorder

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based on heuristic

inferred from title

Ronald J A Wanders

3

object named as

Ronald J A Wanders

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author name string

Avraham Zeharia

1

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Merel S Ebberink

2

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Hans R Waterham

4

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Alisa Gutman

5

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Andreea Nissenkorn

6

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Stanley H Korman

7

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language of work or name

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publication date

2007

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Journal of Human Genetics

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52

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7

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599-606

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Biochemical markers predicting survival in peroxisome biogenesis disorders

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https://api.crossref.org/works/10.1007%2FS10038-007-0157-Y

21 January 2018

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

1 reference

https://api.crossref.org/works/10.1007%2FS10038-007-0157-Y

21 January 2018

Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy

1 reference

https://api.crossref.org/works/10.1007%2FS10038-007-0157-Y

21 January 2018

Characteristic urine organic acid profile in peroxisomal biogenesis disorders

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal and perinatal diagnosis of peroxisomal disorders

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new type of peroxisomal disorder with variable expression in liver and fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

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Metabolic and molecular basis of peroxisomal disorders: a review

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

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Peroxisome mosaics.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

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Phenotypic variability (heterogeneity) of peroxisomal disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved method for quantification of very long chain fatty acids in plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17534573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10038-007-0157-Y

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