Desmosomal Molecules In and Out of Adhering Junctions: Normal and Diseased States of Epidermal, Cardiac and Mesenchymally Derived Cells
Table 2
During the last few years an avalanche of publications has appeared—and is still continuing to do so—showing the involvement of mutations in desmosomal components in the development of arrhythmogenic cardiomyopathies, including “sudden death” cases (for references see [10–12, 38, 40, 42–96]). Recent references reporting that certain mutations in human genes encoding desmosomal proteins and glycoproteins contribute to arrhythmogenic ventricular cardiomyopathies (ARVC).
Protein
Reference
Plakophilin-2
Gerull et al. [43] Antoniades et al. [44] Calkins [45] Nagaoka et al. [46] Kannankeril et al. [47] Dalal et al. [48] Syrris et al. [49] Tsatsopoulou et al. [50] Van Tintelen et al. [51] Awad et al. [60] Lahtinen et al. [52] Otterspoor et al. [53]
Fidler et al. [38] Joshi-Mukherje et al. [54] Ram and Van Wagoner, [55] Tandri et al. [56] Wu et al. [57] Qiu et al. [58] (5 cases) Hall et al. [40] Bhuiyan et al. [59] (23 cases) den Haan et al. [64] (21 cases) Xu et al. [61] (38 cases) Bauce et al. [62] (7 cases) Cox et al. [95] (58 cases)
Desmoplakin
Norgett et al. [84] Rampazzo and Danieli [97] Alcalai et al. [86] Bauce et al. [77] Norman et al. [85] Sen-Chowdhry et al. [87] Norgett et al. [75] Uzumcu et al. [74] Sen-Chowdhry et al. [88]
Tsatsopoulou et al. [50] Yang et al. [89] den Haan et al. [64] (1 case) Mahoney et al. [81] Xu et al. [61] (10 cases) Bauce et al. [62] (5 cases) Cox et al. [95] (1 case) Bolling et al. [96]
Desmoglein-2
Pilichou et al. [90] Tsatsopoulou et al. [50] Awad et al. [60] Syrris et al. [73] Yu et al. [91]
Bhuiyan et al. [59] (4 cases) den Haan et al. [64] (8 cases) Xu et al. [61] (10 cases) Bauce et al. [62] (4 cases) Cox et al. [95] (3 cases)
Desmocollin-2
Heuser et al. [83] Syrris et al. [72] Beffagna et al. [79] Bhuiyan et al. [59] (2 cases)
Simpson et al. [76] Xu et al. [61] (4 cases) Bauce et al. [62] (2 cases) Cox et al. [95] (3 cases)
Plakoglobin
McKoy et al. [80] Protonotarios et al. [78, 82] Kaplan et al. [71] Garcia-Gras et al. [92]
Asimaki et al. [93] Asimaki et al. [94] den Haan et al. [64] (1 case) Xu et al. [61] (2 cases)
Selected review articles: Bazzi and Christiano [65]; Marcus et al. (Eds.) [42]; Awad et al. [66]; Corrado et al. [67]; Herren et al. [68]; Saffitz [69]; Sen-Chowdhry et al. [63]. First animal model (boxer dog): Oxford et al. [70].
