| Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. | Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Vansenne F, Fock JM, Stolte-Dijkstra I, Meiners LC, van den Boogaard MH, Jaeger B, Boven L, Vos YJ, Sinke RJ, Verbeek DS. | 12/17/2022 |
| Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5. | Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5.
Schwertz H, Rowley JW, Portier I, Middleton EA, Tolley ND, Campbell RA, Eustes AS, Chen K, Rondina MT., Free PMC Article | 07/23/2022 |
| Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate. | Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
Rafei MA, Harikrishna B, Al Thihli K, Al-Mujaini AS, Ganesh A. | 02/5/2022 |
| Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5. | Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.
Nam SE, Cheung YWS, Nguyen TN, Gong M, Chan S, Lazarou M, Yip CK., Free PMC Article | 08/14/2021 |
| EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. | EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
Vojcek E, Keszthelyi TM, Jávorszky E, Balogh L, Tory K. | 02/6/2021 |
| C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer. | C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer.
Li H, Liu J, Cao W, Xiao X, Liang L, Liu-Smith F, Wang W, Liu H, Zhou P, Ouyang R, Yuan Z, Liu J, Ye M, Zhang B., Free PMC Article | 08/22/2020 |
| we successfully identified novel compound heterozygous mutations in EPG5 in a patient who was clinically considered to have Vici syndrome. | Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. | 11/2/2019 |
| To investigate the function of EPG5, siRNA based EPG5 knock-down, and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion. | Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S., Free PMC Article | 05/18/2019 |
| these findings indicate that EPG5, by controlling nucleic acids intracellular trafficking, links macroautophagy/autophagy to innate and adaptive immunity. | The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.
Piano Mortari E, Folgiero V, Marcellini V, Romania P, Bellacchio E, D'Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz DT, Jungbluth H, Dionisi-Vici C, Carsetti R., Free PMC Article | 03/2/2019 |
| this is a report of a novel EPG5 mutation in a 21 week fetus and its sibling affected with Vici syndrome. This is the second report of brain histology in Vici syndrome in the prenatal period, at earliest reported gestation till date; with previously unreported finding of focal cortical microdysgenesis, thereby expanding the spectrum of disordered cortical development in this syndrome | Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.
Aggarwal S, Tandon A, Bhowmik AD, Dalal A. | 01/12/2019 |
| Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero | Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H. | 12/2/2017 |
| Our report further reinforces that EPG5-related Vici syndrome is both a neurodevelopmental disorder, which can be diagnosed as early as the second trimester of pregnancy, as well as a neurodegenerative disorder. | Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
Maillard C, Cavallin M, Piquand K, Philbert M, Bault JP, Millischer AE, Moshous D, Rio M, Gitiaux C, Boddaert N, Masson C, Thomas S, Bahi-Buisson N. | 10/21/2017 |
| The Vici syndrome protein EPG5 is a Rab7 effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes. | The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes.
Wang Z, Miao G, Xue X, Guo X, Yuan C, Wang Z, Zhang G, Chen Y, Feng D, Hu J, Zhang H. | 09/9/2017 |
| Seven SNPs were significantly associated with the risk of Alzheimer disease, and eight SNPs were associated with the age at onset of AD. | Non-parametric Survival Analysis of EPG5 Gene with Age at Onset of Alzheimer's Disease.
Wang KS, Liu X, Xie C, Liu Y, Xu C. | 03/25/2017 |
| We report two sisters with a nonsense mutation within exon 14 of the EPG5 gene and a phenotype consistent with Vici syndrome | Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.
Huenerberg K, Hudspeth M, Bergmann S, Pai S, Singh B, Duong A. | 01/14/2017 |
| This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg | Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD., Free PMC Article | 09/2/2016 |
| A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. | 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, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN. | 07/25/2015 |
| Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. | Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H., Free PMC Article | 02/23/2013 |
| Observational study of gene-disease association. (HuGE Navigator) | Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
Ng D, Hu N, Hu Y, Wang C, Giffen C, Tang ZZ, Han XY, Yang HH, Lee MP, Goldstein AM, Taylor PR., Free PMC Article | 09/24/2008 |
| We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis. | Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain.
Halama N, Grauling-Halama SA, Beder A, Jäger D. | 01/21/2010 |