Citations for
1PARK23, VPS13C
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC); International Parkinson's Disease Genomics Consortium IPDGC.
Am J Hum Genet 98(3):500-13. doi: 10.1016/j.ajhg.2016.01.014. 2016
2C2CD4A, C2CD4B, VPS13C
Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.
Mehta ZB, Fine N, Pullen TJ, Cane MC, Hu M, Chabosseau P, Meur G, Velayos-Baeza A, Monaco AP, Marselli L, Marchetti P, Rutter GA.
Am J Physiol Endocrinol Metab 311(2):E488-507. doi: 10.1152/ajpendo.00074.2016. Epub 2016 Jun 21. 2016
3ADCY5, GIPR, VPS13C
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH; GIANT consortium; MAGIC investigators, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ, Watanabe RM.
Nat Genet 42(2):142-8. Epub 2010 Jan 17.PMID: 20081857 2010
4VPS13A, VPS13C
Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.
Mizuno E, Nakamura M, Agemura A, Kusumoto A, Ichiba M, Kurano Y, Muroya S, Sano A.
Biochem Biophys Res Commun 353(4):902-7. Epub 2006 Dec 22. 2007
5VPS13C, VPS13A, VPS13D
Analysis of the human VPS13 gene family.
Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP.
Genomics 84(3):536-49. 2004