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Page 1
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. Among authors: stanga d. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Among authors: stanga d. Sci Rep. 2019 Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6. Sci Rep. 2019. PMID: 31575891 Free PMC article.
TRAPPing a neurological disorder: from yeast to humans.
Lipatova Z, Van Bergen N, Stanga D, Sacher M, Christodoulou J, Segev N. Lipatova Z, et al. Among authors: stanga d. Autophagy. 2020 May;16(5):965-966. doi: 10.1080/15548627.2020.1736873. Epub 2020 Mar 6. Autophagy. 2020. PMID: 32116085 Free PMC article.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE. Bögershausen N, et al. Among authors: stanga d. Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830518 Free PMC article.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Among authors: stanga d. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.
trappc11 is required for protein glycosylation in zebrafish and humans.
DeRossi C, Vacaru A, Rafiq R, Cinaroglu A, Imrie D, Nayar S, Baryshnikova A, Milev MP, Stanga D, Kadakia D, Gao N, Chu J, Freeze HH, Lehrman MA, Sacher M, Sadler KC. DeRossi C, et al. Among authors: stanga d. Mol Biol Cell. 2016 Apr 15;27(8):1220-34. doi: 10.1091/mbc.E15-08-0557. Epub 2016 Feb 24. Mol Biol Cell. 2016. PMID: 26912795 Free PMC article.
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Among authors: stanga d. Sci Rep. 2020 Nov 10;10(1):19770. doi: 10.1038/s41598-020-76436-0. Sci Rep. 2020. PMID: 33173071 Free PMC article.
A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects.
Stewart K, Gaitan Y, Shafer ME, Aoudjit L, Hu D, Sharma R, Tremblay M, Ishii H, Marcotte M, Stanga D, Tang YC, Boualia SK, Nguyen AH, Takano T, Lamarche-Vane N, Vidal S, Bouchard M. Stewart K, et al. Among authors: stanga d. PLoS Genet. 2016 Feb 9;12(2):e1005785. doi: 10.1371/journal.pgen.1005785. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26859289 Free PMC article.
41 results