Literature DB >> 29148542

PRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent.

Lieke Kros1, Chris I De Zeeuw1,2.   

Abstract

In an elegant publication in Cell Research, Tan and colleagues showed that ablation of PRRT2 in cerebellar granule cells is sufficient to induce paroxysmal kinesigenic dyskinesia. PRRT2 turns out to downregulate the presynaptic SNARE complex in granule cell axons, which in turn controls the activity patterns of Purkinje cells, the sole output of the cerebellar cortex.

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Year:  2017        PMID： 29148542      PMCID： PMC5752843          DOI： 10.1038/cr.2017.142

Source DB:  PubMed          Journal:  Cell Res        ISSN： 1001-0602            Impact factor:   25.617


  11 in total

1.  A human protein-protein interaction network: a resource for annotating the proteome.

Authors:  Ulrich Stelzl; Uwe Worm; Maciej Lalowski; Christian Haenig; Felix H Brembeck; Heike Goehler; Martin Stroedicke; Martina Zenkner; Anke Schoenherr; Susanne Koeppen; Jan Timm; Sascha Mintzlaff; Claudia Abraham; Nicole Bock; Silvia Kietzmann; Astrid Goedde; Engin Toksöz; Anja Droege; Sylvia Krobitsch; Bernhard Korn; Walter Birchmeier; Hans Lehrach; Erich E Wanker
Journal:  Cell       Date:  2005-09-23       Impact factor: 41.582

2.  Increased noise level of purkinje cell activities minimizes impact of their modulation during sensorimotor control.

Authors:  F E Hoebeek; J S Stahl; A M van Alphen; M Schonewille; C Luo; M Rutteman; A M J M van den Maagdenberg; P C Molenaar; H H L M Goossens; M A Frens; C I De Zeeuw
Journal:  Neuron       Date:  2005-03-24       Impact factor: 17.173

3.  Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Authors:  Wan-Jin Chen; Yu Lin; Zhi-Qi Xiong; Wei Wei; Wang Ni; Guo-He Tan; Shun-Ling Guo; Jin He; Ya-Fang Chen; Qi-Jie Zhang; Hong-Fu Li; Yi Lin; Shen-Xing Murong; Jianfeng Xu; Ning Wang; Zhi-Ying Wu
Journal:  Nat Genet       Date:  2011-11-20       Impact factor: 38.330

Review 4.  The evolving spectrum of PRRT2-associated paroxysmal diseases.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Ana Westenberger; Christine Klein
Journal:  Brain       Date:  2015-11-23       Impact factor: 13.501

5.  Abnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism.

Authors:  Rachel Fremont; D Paola Calderon; Sara Maleki; Kamran Khodakhah
Journal:  J Neurosci       Date:  2014-08-27       Impact factor: 6.167

6.  Short latency cerebellar modulation of the basal ganglia.

Authors:  Christopher H Chen; Rachel Fremont; Eduardo E Arteaga-Bracho; Kamran Khodakhah
Journal:  Nat Neurosci       Date:  2014-11-17       Impact factor: 24.884

7.  PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

Authors:  Pierluigi Valente; Enrico Castroflorio; Pia Rossi; Manuela Fadda; Bruno Sterlini; Romina Ines Cervigni; Cosimo Prestigio; Silvia Giovedì; Franco Onofri; Elisa Mura; Fabrizia C Guarnieri; Antonella Marte; Marta Orlando; Federico Zara; Anna Fassio; Flavia Valtorta; Pietro Baldelli; Anna Corradi; Fabio Benfenati
Journal:  Cell Rep       Date:  2016-03-24       Impact factor: 9.423

8.  Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.

Authors:  Toke Jost Isaksen; Lieke Kros; Natascia Vedovato; Thomas Hellesøe Holm; Ariel Vitenzon; David C Gadsby; Kamran Khodakhah; Karin Lykke-Hartmann
Journal:  PLoS Genet       Date:  2017-05-04       Impact factor: 5.917

9.  Cerebellar output controls generalized spike-and-wave discharge occurrence.

Authors:  Lieke Kros; Oscar H J Eelkman Rooda; Jochen K Spanke; Parimala Alva; Marijn N van Dongen; Athanasios Karapatis; Else A Tolner; Christos Strydis; Neil Davey; Beerend H J Winkelman; Mario Negrello; Wouter A Serdijn; Volker Steuber; Arn M J M van den Maagdenberg; Chris I De Zeeuw; Freek E Hoebeek
Journal:  Ann Neurol       Date:  2015-06       Impact factor: 10.422

10.  Excitatory Cerebellar Nucleocortical Circuit Provides Internal Amplification during Associative Conditioning.

Authors:  Zhenyu Gao; Martina Proietti-Onori; Zhanmin Lin; Michiel M Ten Brinke; Henk-Jan Boele; Jan-Willem Potters; Tom J H Ruigrok; Freek E Hoebeek; Chris I De Zeeuw
Journal:  Neuron       Date:  2016-02-03       Impact factor: 17.173
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  1 in total

1.  An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability.

Authors:  Bruno Sterlini; Alessandra Romei; Fabio Benfenati; Anna Corradi; Chiara Parodi; Davide Aprile; Michele Oneto; Anita Aperia; Pierluigi Valente; Flavia Valtorta; Anna Fassio; Pietro Baldelli
Journal:  Cell Death Dis       Date:  2021-03-17       Impact factor: 8.469
  1 in total

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