Literature DB >> 23318296

Motor neuron disease in 2012: Novel causal genes and disease modifiers.

Rosa Rademakers1, Marka van Blitterswijk.   

Abstract

In 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered C9ORF72 repeat expansions, which cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients.

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Year:  2013        PMID： 23318296     DOI： 10.1038/nrneurol.2012.276

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  10 in total

1.  Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat.

Authors:  John Hodges
Journal:  Brain       Date:  2012-03       Impact factor: 13.501

2.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

3.  Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Authors:  Marka van Blitterswijk; Michael A van Es; Eric A M Hennekam; Dennis Dooijes; Wouter van Rheenen; Jelena Medic; Pierre R Bourque; Helenius J Schelhaas; Anneke J van der Kooi; Marianne de Visser; Paul I W de Bakker; Jan H Veldink; Leonard H van den Berg
Journal:  Hum Mol Genet       Date:  2012-05-29       Impact factor: 6.150

Review 4.  How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Authors:  Marka van Blitterswijk; Mariely DeJesus-Hernandez; Rosa Rademakers
Journal:  Curr Opin Neurol       Date:  2012-12       Impact factor: 5.710

Review 5.  Amyotrophic lateral sclerosis.

Authors:  Matthew C Kiernan; Steve Vucic; Benjamin C Cheah; Martin R Turner; Andrew Eisen; Orla Hardiman; James R Burrell; Margaret C Zoing
Journal:  Lancet       Date:  2011-02-04       Impact factor: 79.321

6.  EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans.

Authors:  Annelies Van Hoecke; Lies Schoonaert; Robin Lemmens; Mieke Timmers; Kim A Staats; Angela S Laird; Elke Peeters; Thomas Philips; An Goris; Bénédicte Dubois; Peter M Andersen; Ammar Al-Chalabi; Vincent Thijs; Ann M Turnley; Paul W van Vught; Jan H Veldink; Orla Hardiman; Ludo Van Den Bosch; Paloma Gonzalez-Perez; Philip Van Damme; Robert H Brown; Leonard H van den Berg; Wim Robberecht
Journal:  Nat Med       Date:  2012-09       Impact factor: 53.440

7.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

8.  Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Authors:  Chi-Hong Wu; Claudia Fallini; Nicola Ticozzi; Pamela J Keagle; Peter C Sapp; Katarzyna Piotrowska; Patrick Lowe; Max Koppers; Diane McKenna-Yasek; Desiree M Baron; Jason E Kost; Paloma Gonzalez-Perez; Andrew D Fox; Jenni Adams; Franco Taroni; Cinzia Tiloca; Ashley Lyn Leclerc; Shawn C Chafe; Dev Mangroo; Melissa J Moore; Jill A Zitzewitz; Zuo-Shang Xu; Leonard H van den Berg; Jonathan D Glass; Gabriele Siciliano; Elizabeth T Cirulli; David B Goldstein; Francois Salachas; Vincent Meininger; Wilfried Rossoll; Antonia Ratti; Cinzia Gellera; Daryl A Bosco; Gary J Bassell; Vincenzo Silani; Vivian E Drory; Robert H Brown; John E Landers
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962

9.  Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Authors:  Elisa Majounie; Alan E Renton; Kin Mok; Elise G P Dopper; Adrian Waite; Sara Rollinson; Adriano Chiò; Gabriella Restagno; Nayia Nicolaou; Javier Simon-Sanchez; John C van Swieten; Yevgeniya Abramzon; Janel O Johnson; Michael Sendtner; Roger Pamphlett; Richard W Orrell; Simon Mead; Katie C Sidle; Henry Houlden; Jonathan D Rohrer; Karen E Morrison; Hardev Pall; Kevin Talbot; Olaf Ansorge; Dena G Hernandez; Sampath Arepalli; Mario Sabatelli; Gabriele Mora; Massimo Corbo; Fabio Giannini; Andrea Calvo; Elisabet Englund; Giuseppe Borghero; Gian Luca Floris; Anne M Remes; Hannu Laaksovirta; Leo McCluskey; John Q Trojanowski; Vivianna M Van Deerlin; Gerard D Schellenberg; Michael A Nalls; Vivian E Drory; Chin-Song Lu; Tu-Hsueh Yeh; Hiroyuki Ishiura; Yuji Takahashi; Shoji Tsuji; Isabelle Le Ber; Alexis Brice; Carsten Drepper; Nigel Williams; Janine Kirby; Pamela Shaw; John Hardy; Pentti J Tienari; Peter Heutink; Huw R Morris; Stuart Pickering-Brown; Bryan J Traynor
Journal:  Lancet Neurol       Date:  2012-03-09       Impact factor: 44.182

10.  Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models.

Authors:  Maria Armakola; Matthew J Higgins; Matthew D Figley; Sami J Barmada; Emily A Scarborough; Zamia Diaz; Xiaodong Fang; James Shorter; Nevan J Krogan; Steven Finkbeiner; Robert V Farese; Aaron D Gitler
Journal:  Nat Genet       Date:  2012-10-28       Impact factor: 38.330
  10 in total
  11 in total

Review 1.  Using induced pluripotent stem cell neuronal models to study neurodegenerative diseases.

Authors:  Xinwen Zhang; Di Hu; Yutong Shang; Xin Qi
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-03-18       Impact factor: 5.187

2.  Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Authors:  Mark T W Ebbert; Christian A Ross; Luc J Pregent; Rebecca J Lank; Cheng Zhang; Rebecca B Katzman; Karen Jansen-West; Yuping Song; Edroaldo Lummertz da Rocha; Carla Palmucci; Pamela Desaro; Amelia E Robertson; Ana M Caputo; Dennis W Dickson; Kevin B Boylan; Rosa Rademakers; Tamas Ordog; Hu Li; Veronique V Belzil
Journal:  Acta Neuropathol       Date:  2017-08-14       Impact factor: 17.088

Review 3.  Biological Spectrum of Amyotrophic Lateral Sclerosis Prions.

Authors:  Magdalini Polymenidou; Don W Cleveland
Journal:  Cold Spring Harb Perspect Med       Date:  2017-11-01       Impact factor: 6.915

Review 4.  Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Authors:  Zongbing Hao; Rui Wang; Haigang Ren; Guanghui Wang
Journal:  Neurosci Bull       Date:  2020-08-29       Impact factor: 5.203

Review 5.  ALS and FTD: an epigenetic perspective.

Authors:  Veronique V Belzil; Rebecca B Katzman; Leonard Petrucelli
Journal:  Acta Neuropathol       Date:  2016-06-09       Impact factor: 17.088

6.  Characterization of early pathogenesis in the SOD1(G93A) mouse model of ALS: part I, background and methods.

Authors:  Sharon Vinsant; Carol Mansfield; Ramon Jimenez-Moreno; Victoria Del Gaizo Moore; Masaaki Yoshikawa; Thomas G Hampton; David Prevette; James Caress; Ronald W Oppenheim; Carol Milligan
Journal:  Brain Behav       Date:  2013-06-11       Impact factor: 2.708

Review 7.  Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.

Authors:  Ming-Dong Wang; James Gomes; Neil R Cashman; Julian Little; Daniel Krewski
Journal:  PLoS One       Date:  2014-08-22       Impact factor: 3.240

Review 8.  S-nitrosylation of the thioredoxin-like domains of protein disulfide isomerase and its role in neurodegenerative conditions.

Authors:  Myra E Conway; Matthew Harris
Journal:  Front Chem       Date:  2015-04-16       Impact factor: 5.221

9.  Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans.

Authors:  Melissa Nel; Thandeka Mavundla; Kayleigh Gultig; Gerrit Botha; Nicola Mulder; Michael Benatar; Joanne Wuu; Anne Cooley; Jason Myers; Evadnie Rampersaud; Gang Wu; Jeannine M Heckmann
Journal:  IBRO Neurosci Rep       Date:  2021-02-10

10.  The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.

Authors:  Peter M Sullivan; Xiaolai Zhou; Adam M Robins; Daniel H Paushter; Dongsung Kim; Marcus B Smolka; Fenghua Hu
Journal:  Acta Neuropathol Commun       Date:  2016-05-18       Impact factor: 7.801
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