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A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

2018; Elsevier BV; Volume: 61; Linguagem: Inglês

10.1016/j.parkreldis.2018.12.001

1873-5126

Federica Graziola, Fabrizia Stregapede, Lorena Travaglini, Giacomo Garone, Margherita Verardo, Luca Bosco, S. Pro, Enrico Bertini, Paolo Curatolo, Federico Vigevano, Alessandro Capuano,

Ubiquitin and proteasome pathways

KCTD17 [potassium channel tetramerization domain (KCTD)-containing protein 17] is a member of KCTD family [ [1] Liu Z. Xiang Y. Sun G. The KCTD family of proteins: structure, function, disease relevance. Cell Biosci. 2013; 24: 3-45 Google Scholar ], a group of soluble non-channel proteins involved in a wide spectrum of cell functions, including regulation of cellular proliferation, gene transcription, cytoskeleton organization [ [2] Skoblov M. Marakhonov A. Marakasova E. Guskova A. Chandhoke V. Birerdinc A. Baranova A. Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development. Bioessays. 2013; 35: 586-596 Crossref PubMed Scopus (57) Google Scholar ], protein degradation targeting via the ubiquitin-proteasome system, and regulation of G protein-coupled receptors [ [3] Kasahara K. Kawakami Y. Kiyono T. Yonemura S. Kawamura Y. Era S. Matsuzaki F. Goshima N. Inagaki M. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. Nat. Commun. 2014; 5: 5081 Crossref PubMed Scopus (96) Google Scholar ]. In particular, KCTD17 contributes to synaptogenesis and brain development via the ubiquitin-proteasome machinery, acting as an adaptor for the CUL3-RING E3 ligase [ [4] Petroski M.D. Deshaies R.J. Function and regulation of cullin–RING ubiquitin ligases. Nat. Rev. Mol. Cell Biol. 2005; 6: 9-20 Crossref PubMed Scopus (1678) Google Scholar ]. Protein is highly expressed into the basal ganglia and in particular in the putamen where it participates to endoplasmic reticulum-dependent calcium signalling [ [5] Mencacci N.E. Rubio-Agusti I. Zdebik A. Asmus F. Ludtmann M.H. Ryten M. Plagnol V. Hauser A.K. Bandres-Ciga S. Bettencourt C. Forabosco P. Hughes D. Soutar M.M. Peall K. Morris H.R. Trabzuni D. Tekman M. Stanescu H.C. Kleta R. Carecchio M. Zorzi G. Nardocci N. Garavaglia B. Lohmann E. Weissbach A. Klein C. Hardy J. Pittman A.M. Foltynie T. Abramov A.Y. Gasser T. Bhatia K.P. Wood N.W. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am. J. Hum. Genet. 2015; 96: 938-947 Abstract Full Text Full Text PDF PubMed Scopus (87) Google Scholar ].