New Gene Implicated in Early-Onset Generalized Dystonia: Lysine-Specific Methyltransferase 2B (KMT2B)

被引：2
|
作者：
Siow, Sue-Faye [1 ,2 ]
Kumar, Kishore R. [1 ,2 ,3 ]
机构：
[1] Kolling Inst Med Res, Dept Neurogenet, St Leonards, NSW, Australia
[2] Royal North Shore Hosp, St Leonards, NSW, Australia
[3] Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia
来源：
MOVEMENT DISORDERS | 2017年 / 32卷 / 03期
关键词：
D O I：
10.1002/mds.26928
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：395 / 395
页数：1
相关论文
共 50 条
  • [41] Histone-Methyltransferase MLL2 (KMT2B) Is Required for Memory Formation in Mice
    Kerimoglu, Cemil
    Agis-Balboa, Roberto C.
    Kranz, Andrea
    Stilling, Roman
    Bahari-Javan, Sanaz
    Benito-Garagorri, Eva
    Halder, Rashi
    Burkhardt, Susanne
    Stewart, Adrian Francis
    Fischer, Andre
    JOURNAL OF NEUROSCIENCE, 2013, 33 (08): : 3452 - 3464
  • [42] Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients
    Ramon-Gomez, Jorge L.
    Bernal-Pacheco, Oscar
    Zarante-Bahamon, Ana M.
    Martinez-Cordoba, Natalia
    Lince-Rivera, Isabella
    REVISTA DE NEUROLOGIA, 2024, 78 (10) : 285 - 291
  • [43] Adult-onset KMT2B-related dystonia
    Monfrini, Edoardo
    Ciolfi, Andrea
    Cavallieri, Francesco
    Ferilli, Marco
    Soliveri, Paola
    Pedace, Lucia
    Erro, Roberto
    Del Sorbo, Francesca
    Valzania, Franco
    Fioravanti, Valentina
    Cossu, Giovanni
    Pellegrini, Maria
    Salviati, Leonardo
    Invernizzi, Federica
    Oppo, Valentina
    Murgia, Daniela
    Giometto, Bruno
    Picillo, Marina
    Garavaglia, Barbara
    Morgante, Francesca
    Tartaglia, Marco
    Carecchio, Miryam
    Di Fonzo, Alessio
    BRAIN COMMUNICATIONS, 2022, 4 (06)
  • [44] Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders
    Stehr, Antonia M.
    Fischer, Jan
    Mirza-Schreiber, Nazanin
    Bernardi, Katerina
    Porrmann, Joseph
    Harrer, Philip
    Kaiser, Frank
    Abou Jamra, Rami
    Winkelmann, Juliane
    Jech, Robert
    Koy, Anne
    Oexle, Konrad
    Zech, Michael
    PARKINSONISM & RELATED DISORDERS, 2025, 133
  • [45] Bilateral GPi DBS for the treatment of severe generalized genetic dystonia caused by KMT2B mutation (DYT-28)
    Lopez-Castellanos, J.
    Lotia, M.
    MOVEMENT DISORDERS, 2020, 35 : S598 - S599
  • [46] A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia (vol 32, pg 1495, 2017)
    Lange, L. M.
    Tunc, S.
    Tennstedt, S.
    MOVEMENT DISORDERS, 2018, 33 (01) : 184 - 184
  • [47] Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study
    Carecchio, Miryam
    Invernizzi, Federica
    Gonzalez-Latapi, Paulina
    Panteghini, Celeste
    Zorzi, Giovanna
    Romito, Luigi
    Leuzzi, Vincenzo
    Galosi, Serena
    Reale, Chiara
    Zibordi, Federica
    Joseph, Agnel P.
    Topf, Maya
    Piano, Carla
    Bentivoglio, Anna Rita
    Girotti, Floriano
    Morana, Paolo
    Morana, Benedetto
    Kurian, Manju A.
    Garavaglia, Barbara
    Mencacci, Niccolo E.
    Lubbe, Steven J.
    Nardocci, Nardo
    MOVEMENT DISORDERS, 2019, 34 (10) : 1516 - 1527
  • [48] KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes
    Barbagiovanni, Giulia
    Germain, Pierre-Luc
    Zech, Michael
    Atashpaz, Sina
    Lo Riso, Pietro
    D'Antonio-Chronowska, Agnieszka
    Tenderini, Erika
    Caiazzo, Massimiliano
    Boesch, Sylvia
    Jech, Robert
    Haslinger, Bernhard
    Broccoli, Vania
    Stewart, Adrian Francis
    Winkelmann, Juliane
    Testa, Giuseppe
    CELL REPORTS, 2018, 25 (04): : 988 - 1001
  • [49] Histone Methyltransferase KMT2B Promotes Metastasis and Angiogenesis of Cervical Cancer by Upregulating EGF Expression
    Zhao, Dan
    Yuan, Hui
    Fang, Yuan
    Gao, Jian
    Li, Huimin
    Li, Mengge
    Cong, Hui
    Zhang, Chenglin
    Liang, Yiyi
    Li, Jin
    Yang, Hancao
    Yao, Ming
    Du, Min
    Tu, Hong
    Gan, Yu
    INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2023, 19 (01): : 34 - 49
  • [50] Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant
    Luque Buzo, E.
    De la Casa-Fages, B.
    Gonzalez Sanchez, M.
    Perez Sanchez, J. R.
    Fernandez Carballal, C.
    Garbizu Vidorreta, J.
    Mateo Sierra, O.
    Contreras Chicote, A.
    Grandas, F.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2022, 438
12345