Associated Papers
Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.
Khalilian S et al.
Bmc Medical Genomics, 2025
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Zaki MS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.
Berendse K et al.
Journal of Inherited Metabolic Disease, 2019
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Wang XM et al.
Stem Cell Research & Therapy, 2015
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Berendse K et al.
Orphanet Journal of Rare Diseases, 2013
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
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.
Zeharia A et al.
Journal of Human Genetics, 2007
Peroxisome biogenesis disorders.
Steinberg SJ et al.
Biochimica Et Biophysica Acta, 2006
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
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.
Gootjes J et al.
Human Mutation, 2004
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.
Gootjes J et al.
Neurology, 2004
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS et al.
Human Mutation, 2000
PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.
Chang CC et al.
The Journal of Cell Biology, 1999