Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
Pancreatic involvement in EPG5-related disorders.
Famili DT et al.
Molecular Genetics and Metabolism Reports, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Dafsari HS et al.
Annals of Neurology, 2025
Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.
Sun QY et al.
Annals of Neurology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.
Deneubourg C et al.
Autophagy, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
Selamioğlu A et al.
Molecular Syndromology, 2024
An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene.
Mitchell MW et al.
Stem Cell Research, 2022
Vici syndrome in Israel: Clinical and molecular insights.
Chorin O et al.
Frontiers in Genetics, 2022
The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.
Dong L et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.
Nam SE et al.
Communications Biology, 2021
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
Vojcek E et al.
Annals of Human Genetics, 2020
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.
Kane MS et al.
Neuropediatrics, 2019
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.
Waldrop MA et al.
American Journal of Medical Genetics. Part A, 2018
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.
Piano Mortari E et al.
Autophagy, 2018
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Touraine R et al.
American Journal of Medical Genetics. Part A, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I et al.
Scientific Reports, 2017
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Kane MS et al.
Brain : a Journal of Neurology, 2016
Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Byrne S et al.
Brain : a Journal of Neurology, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S et al.
Brain : a Journal of Neurology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
Ehmke N et al.
American Journal of Medical Genetics. Part A, 2014
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T et al.
Nature Genetics, 2013