These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 23674064)

  • 1. Role of Epg5 in selective neurodegeneration and Vici syndrome.
    Zhao YG; Zhao H; Sun H; Zhang H
    Autophagy; 2013 Aug; 9(8):1258-62. PubMed ID: 23674064
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration.
    Zhao H; Zhao YG; Wang X; Xu L; Miao L; Feng D; Chen Q; Kovács AL; Fan D; Zhang H
    J Cell Biol; 2013 Mar; 200(6):731-41. PubMed ID: 23479740
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The
    Meneghetti G; Skobo T; Chrisam M; Facchinello N; Fontana CM; Bellesso S; Sabatelli P; Raggi F; Cecconi F; Bonaldo P; Dalla Valle L
    Autophagy; 2019 Aug; 15(8):1438-1454. PubMed ID: 30806141
    [TBL] [Abstract][Full Text] [Related]  

  • 4. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
    Byrne S; Jansen L; U-King-Im JM; Siddiqui A; Lidov HG; Bodi I; Smith L; Mein R; Cullup T; Dionisi-Vici C; Al-Gazali L; Al-Owain M; Bruwer Z; Al Thihli K; El-Garhy R; Flanigan KM; Manickam K; Zmuda E; Banks W; Gershoni-Baruch R; Mandel H; Dagan E; Raas-Rothschild A; Barash H; Filloux F; Creel D; Harris M; Hamosh A; Kölker S; Ebrahimi-Fakhari D; Hoffmann GF; Manchester D; Boyer PJ; Manzur AY; Lourenco CM; Pilz DT; Kamath A; Prabhakar P; Rao VK; Rogers RC; Ryan MM; Brown NJ; McLean CA; Said E; Schara U; Stein A; Sewry C; Travan L; Wijburg FA; Zenker M; Mohammed S; Fanto M; Gautel M; Jungbluth H
    Brain; 2016 Mar; 139(Pt 3):765-81. PubMed ID: 26917586
    [TBL] [Abstract][Full Text] [Related]  

  • 5. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
    Balasubramaniam S; Riley LG; Vasudevan A; Cowley MJ; Gayevskiy V; Sue CM; Edwards C; Edkins E; Junckerstorff R; Kiraly-Borri C; Rowe P; Christodoulou J
    JIMD Rep; 2018; 42():19-29. PubMed ID: 29159459
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    Nat Genet; 2013 Jan; 45(1):83-7. PubMed ID: 23222957
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    Mol Cell; 2016 Sep; 63(5):781-95. PubMed ID: 27588602
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa.
    Miao G; Zhao YG; Zhao H; Ji C; Sun H; Chen Y; Zhang H
    Autophagy; 2016 Dec; 12(12):2263-2270. PubMed ID: 27715390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in
    Deneubourg C; Dafsari HS; Lowe S; Martinez-Cotrina A; Mazaud D; Park SH; Vergani V; Almacellas Barbanoj A; Maroofian R; Averdunk L; Ghayoor-Karimiani E; Jayawant S; Mignot C; Keren B; Peters R; Kamath A; Mattas L; Verma S; Silwal A; Distelmaier F; Houlden H; Lignani G; Antebi A; Jepson J; Jungbluth H; Fanto M
    Autophagy; 2024 Oct; ():1-13. PubMed ID: 39342484
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    Sci Rep; 2017 Jun; 7(1):3552. PubMed ID: 28615637
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    Eur J Paediatr Neurol; 2022 Nov; 41():91-98. PubMed ID: 36410285
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    Am J Med Genet A; 2014 Dec; 164A(12):3170-5. PubMed ID: 25331754
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    Autophagy; 2018; 14(1):22-37. PubMed ID: 29130391
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; Zhao J; Muskett J; Diplock A; Srivastava S; Hauser N; Deeken JF; Niederhuber JE; Smith WE; Vilboux T; Ebrahimi-Fakhari D
    Neuropediatrics; 2019 Aug; 50(4):257-261. PubMed ID: 31226715
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    Commun Biol; 2021 Mar; 4(1):291. PubMed ID: 33674710
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    Am J Med Genet A; 2017 Sep; 173(9):2522-2527. PubMed ID: 28748650
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    Am J Med Genet A; 2018 Dec; 176(12):2803-2807. PubMed ID: 30152144
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis.
    Sasaki S
    J Neuropathol Exp Neurol; 2011 May; 70(5):349-59. PubMed ID: 21487309
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis.
    Lu Q; Yokoyama CC; Williams JW; Baldridge MT; Jin X; DesRochers B; Bricker T; Wilen CB; Bagaitkar J; Loginicheva E; Sergushichev A; Kreamalmeyer D; Keller BC; Zhao Y; Kambal A; Green DR; Martinez J; Dinauer MC; Holtzman MJ; Crouch EC; Beatty W; Boon AC; Zhang H; Randolph GJ; Artyomov MN; Virgin HW
    Cell Host Microbe; 2016 Jan; 19(1):102-13. PubMed ID: 26764600
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
    Rusmini P; Cortese K; Crippa V; Cristofani R; Cicardi ME; Ferrari V; Vezzoli G; Tedesco B; Meroni M; Messi E; Piccolella M; Galbiati M; Garrè M; Morelli E; Vaccari T; Poletti A
    Autophagy; 2019 Apr; 15(4):631-651. PubMed ID: 30335591
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.