Associated Papers
Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.
Gomez VA et al.
Disease Models & Mechanisms, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila.
Gomez VA et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.
Takashima S et al.
Molecular Genetics and Metabolism, 2017
Eye movement abnormalities in a patient with Zellweger spectrum disorder.
Rosini F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.
Fedick A et al.
Clinical Genetics, 2014
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
Mignarri A et al.
Jimd Reports, 2012
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK et al.
Journal of Cellular Biochemistry, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Gootjes J et al.
Pediatric Research, 2004
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Shimozawa N et al.
Journal of Medical Genetics, 1999
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
Shimozawa N et al.
Human Mutation, 1998
Molecular defects in genetic diseases of peroxisomes.
Fujiki Y
Biochimica Et Biophysica Acta, 1997