Literature DB >> 32373668

POLR3A-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia.

Paula Camila Alves de Assis Pereira Matos1, Maria Thereza Drumond Gama1, Márcio Luiz Escórcio Bezerra2, Antônio José da Rocha3, Orlando G P Barsottini1, José Luiz Pedroso1.   

Abstract

Entities:  

Keywords:  ataxias; atypical parkinsonism; neurodegeneration with brain iron acculumation (NBIA); rare diseases

Year:  2020        PMID： 32373668      PMCID： PMC7197309          DOI： 10.1002/mdc3.12945

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

Review 1.  Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription.

Authors:  Hélène Dumay-Odelot; Stéphanie Durrieu-Gaillard; Daniel Da Silva; Robert G Roeder; Martin Teichmann
Journal:  Cell Cycle       Date:  2010-09-01       Impact factor: 4.534

2.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Authors:  Nicole I Wolf; Adeline Vanderver; Rosalina M L van Spaendonk; Raphael Schiffmann; Bernard Brais; Marianna Bugiani; Erik Sistermans; Coriene Catsman-Berrevoets; Johan M Kros; Pedro Soares Pinto; Daniela Pohl; Sandya Tirupathi; Petter Strømme; Ton de Grauw; Sébastien Fribourg; Michelle Demos; Amy Pizzino; Sakkubai Naidu; Kether Guerrero; Marjo S van der Knaap; Geneviève Bernard
Journal:  Neurology       Date:  2014-10-22       Impact factor: 9.910

3.  Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Authors:  Geneviève Bernard; Eliane Chouery; Maria Lisa Putorti; Martine Tétreault; Asako Takanohashi; Giovanni Carosso; Isabelle Clément; Odile Boespflug-Tanguy; Diana Rodriguez; Valérie Delague; Joelle Abou Ghoch; Nadine Jalkh; Imen Dorboz; Sebastien Fribourg; Martin Teichmann; André Megarbane; Raphael Schiffmann; Adeline Vanderver; Bernard Brais
Journal:  Am J Hum Genet       Date:  2011-09-09       Impact factor: 11.025

4.  Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Authors:  Martina Minnerop; Delia Kurzwelly; Holger Wagner; Anne S Soehn; Jennifer Reichbauer; Feifei Tao; Tim W Rattay; Michael Peitz; Kristina Rehbach; Alejandro Giorgetti; Angela Pyle; Holger Thiele; Janine Altmüller; Dagmar Timmann; Ilker Karaca; Martina Lennarz; Jonathan Baets; Holger Hengel; Matthis Synofzik; Burcu Atasu; Shawna Feely; Marina Kennerson; Claudia Stendel; Tobias Lindig; Michael A Gonzalez; Rüdiger Stirnberg; Marc Sturm; Sandra Roeske; Johanna Jung; Peter Bauer; Ebba Lohmann; Stefan Herms; Stefanie Heilmann-Heimbach; Garth Nicholson; Muhammad Mahanjah; Rajech Sharkia; Paolo Carloni; Oliver Brüstle; Thomas Klopstock; Katherine D Mathews; Michael E Shy; Peter de Jonghe; Patrick F Chinnery; Rita Horvath; Jürgen Kohlhase; Ina Schmitt; Michael Wolf; Susanne Greschus; Katrin Amunts; Wolfgang Maier; Ludger Schöls; Peter Nürnberg; Stephan Zuchner; Thomas Klockgether; Alfredo Ramirez; Rebecca Schüle
Journal:  Brain       Date:  2017-06-01       Impact factor: 13.501

5.  Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

Authors:  Roberta La Piana; Davide Tonduti; Heather Gordish Dressman; Johanna L Schmidt; Jonathan Murnick; Bernard Brais; Genevieve Bernard; Adeline Vanderver
Journal:  J Child Neurol       Date:  2013-10-07       Impact factor: 1.987

6.  Diffuse hypomyelination is not obligate for POLR3-related disorders.

Authors:  Roberta La Piana; Ferdy K Cayami; Luan T Tran; Kether Guerrero; Rosalina van Spaendonk; Katrin Õunap; Sander Pajusalu; Tobias Haack; Evangeline Wassmer; Dagmar Timmann; Hanna Mierzewska; Bwee T Poll-Thé; Chirag Patel; Helen Cox; Tahir Atik; Huseyin Onay; Ferda Ozkınay; Adeline Vanderver; Marjo S van der Knaap; Nicole I Wolf; Geneviève Bernard
Journal:  Neurology       Date:  2016-03-30       Impact factor: 9.910

7.  Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Authors:  Imen Dorboz; Hélene Dumay-Odelot; Karima Boussaid; Yosra Bouyacoub; Pauline Barreau; Simon Samaan; Haifa Jmel; Eleonore Eymard-Pierre; Claude Cances; Céline Bar; Anne-Lise Poulat; Christophe Rousselle; Florence Renaldo; Monique Elmaleh-Bergès; Martin Teichmann; Odile Boespflug-Tanguy
Journal:  Neurol Genet       Date:  2018-12-03

8.  Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.

Authors:  Karine Choquet; Diane Forget; Elisabeth Meloche; Marie-Josée Dicaire; Geneviève Bernard; Adeline Vanderver; Raphael Schiffmann; Marc R Fabian; Martin Teichmann; Benoit Coulombe; Bernard Brais; Claudia L Kleinman
Journal:  J Biol Chem       Date:  2019-03-21       Impact factor: 5.157

9.  A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

Authors:  Vishal V Tewari; Ritu Mehta; C M Sreedhar; Kunal Tewari; Akbar Mohammad; Neerja Gupta; Sheffali Gulati; Madhulika Kabra
Journal:  BMC Pediatr       Date:  2018-04-04       Impact factor: 2.125
  9 in total
  1 in total

1.  Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.

Authors:  Trevor M Sytsma; Dong-Hui Chen; Bradley Rolf; Michael Dorschner; Suman Jayadev; C Dirk Keene; Jing Zhang; Thomas D Bird; Caitlin S Latimer
Journal:  Neuropathology       Date:  2021-11-09       Impact factor: 2.076
  1 in total

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