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Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, Urtizberea A, Cartier L, Romero NB, Guicheney P. Bitoun M, et al. Hum Mutat. 2009 Oct;30(10):1419-27. doi: 10.1002/humu.21086. Hum Mutat. 2009. PMID: 19623537
Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology domain (PH), have been identified in autosomal dominant centronuclear myopathy (CNM) and in the intermediate and axonal forms of the Charcot-Marie-Tooth peripheral neuropathy (CMT). We re …
Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology domain (PH), have been identified in autosomal dominan …
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G. Ka C, et al. Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12. Haematologica. 2018. PMID: 30002125 Free PMC article.
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen MH, Vaidya D, Soria JM, Suchon P, van Hylckama Vlieg A, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange PE, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A; INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC); Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JC, Becker LC, Jenny NS, März W, Jukema JW, Dehghan A, Trégouët DA, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Sabater-Lleal M, et al. Circulation. 2019 Jan 29;139(5):620-635. doi: 10.1161/CIRCULATIONAHA.118.034532. Circulation. 2019. PMID: 30586737 Free PMC article.
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M, Velardo D, Zanotti S, Ripolone M, Del Bo R, Ciscato P, Napoli L, Corti S, Comi GP, Ronchi D. Rimoldi M, et al. Front Genet. 2025 Apr 7;16:1559773. doi: 10.3389/fgene.2025.1559773. eCollection 2025. Front Genet. 2025. PMID: 40259930 Free PMC article.
The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a proline-rich domain. Monoallelic variants in DNM2 are associated with Charcot-Marie- …
The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) doma …