Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.
Bilamge A et al.
Journal of Child Neurology, 2025
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder.
Tharakan RM et al.
Jimd Reports, 2025
Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.
Kılıç M et al.
Acta Neurologica Belgica, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Cheung ACT et al.
Molecular Genetics and Metabolism, 2025
PEX1G843D remains functional in peroxisome biogenesis but is rapidly degraded by the proteasome.
Sheedy CJ et al.
The Journal of Biological Chemistry, 2025
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
Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.
Omri S et al.
Journal of Lipid Research, 2025
Congenital retinal folds.
Zhong L et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Machado T et al.
Orphanet Journal of Rare Diseases, 2025
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders.
Heins-Marroquin U et al.
Frontiers in Molecular Neuroscience, 2025
PEX1G843D remains functional in peroxisome biogenesis but is rapidly degraded by the proteasome.
Sheedy CJ et al.
Biorxiv : the Preprint Server for Biology, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 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
Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.
Karuntu JS et al.
Ophthalmic Genetics, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Mares Beltran CF et al.
Genes, 2024
Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum.
Zou H et al.
Oxford Medical Case Reports, 2024
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Margiotti K et al.
Current Issues in Molecular Biology, 2024
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Yergeau C et al.
Ophthalmology, 2023
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V et al.
Orphanet Journal of Rare Diseases, 2023
It's Never Too Late for a Diagnosis.
Coelho M et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2023
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Liang JS et al.
Epilepsy & Behavior : E&b, 2023
The Cys-N-degron pathway modulates pexophagy through the N-terminal oxidation and arginylation of ACAD10.
Shim SM et al.
Autophagy, 2023
Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
Gijavanekar C et al.
Current Protocols, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K et al.
Reproductive Biology and Endocrinology : Rb&e, 2023
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
Gagnon C et al.
Hormone Research in Paediatrics, 2023
Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss.
Mauriac SA et al.
Cells, 2022
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
Koens LH et al.
Journal of Inherited Metabolic Disease, 2022
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.
Judy RM et al.
Cells, 2022
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.
Bose M et al.
Cells, 2022
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance.
Dahabieh MS et al.
Autophagy, 2022
Cell Type-Selective Loss of Peroxisomal β-Oxidation Impairs Bipolar Cell but Not Photoreceptor Survival in the Retina.
Swinkels D et al.
Cells, 2022
AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.
Argyriou C et al.
Molecular Therapy. Methods & Clinical Development, 2021