Associated Papers
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Bernal-Bonilla IT et al.
The Application of Clinical Genetics, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
Violante S et al.
Biochimica Et Biophysica Acta, 2013
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
Versatile TPR domains accommodate different modes of target protein recognition and function.
Allan RK et al.
Cell Stress & Chaperones, 2011
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.
Shaheen R et al.
Clinical Genetics, 2011
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
Ebberink MS et al.
Human Mutation, 2009
Functional characterization of two missense mutations in Pex5p - C11S and N526K.
Carvalho AF et al.
Biochimica Et Biophysica Acta, 2007
The mammalian peroxin Pex5pL, the longer isoform of the mobile peroxisome targeting signal (PTS) type 1 transporter, translocates the Pex7p.PTS2 protein complex into peroxisomes via its initial docking site, Pex14p.
Otera H et al.
The Journal of Biological Chemistry, 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
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