Associated Papers
Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
Huang X et al.
Plos One, 2025
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Steinberg SJ et al.
Journal of Inherited Metabolic Disease, 2009
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 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
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Molecular Genetics and Metabolism, 1999
Metabolic control of peroxisome abundance.
Chang CC et al.
Journal of Cell Science, 1999
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
Warren DS et al.
American Journal of Human Genetics, 1998
Peroxisomal disorders. Molecular defects, genotype-phenotype correlations and therapy.
Moser HW
Le Journal Medical Libanais. the Lebanese Medical Journal, 0
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