Literature DB >> 26526532

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport.

Marka van Blitterswijk1, Rosa Rademakers1.   

Abstract

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Year:  2015        PMID： 26526532     DOI： 10.1038/nrneurol.2015.219

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


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  10 in total

1.  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

Review 2.  Mechanisms of toxicity in C9FTLD/ALS.

Authors:  Tania F Gendron; Veronique V Belzil; Yong-Jie Zhang; Leonard Petrucelli
Journal:  Acta Neuropathol       Date:  2014-01-07       Impact factor: 17.088

3.  Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.

Authors:  Shangxi Xiao; Laura MacNair; Philip McGoldrick; Paul M McKeever; Jesse R McLean; Ming Zhang; Julia Keith; Lorne Zinman; Ekaterina Rogaeva; Janice Robertson
Journal:  Ann Neurol       Date:  2015-08-29       Impact factor: 10.422

4.  Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

Authors:  Marka van Blitterswijk; Tania F Gendron; Matthew C Baker; Mariely DeJesus-Hernandez; NiCole A Finch; Patricia H Brown; Lillian M Daughrity; Melissa E Murray; Michael G Heckman; Jie Jiang; Clotilde Lagier-Tourenne; Dieter Edbauer; Don W Cleveland; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Leonard Petrucelli; Bradley F Boeve; Neill R Graff-Radford; Kevin B Boylan; Dennis W Dickson; Rosa Rademakers
Journal:  Acta Neuropathol       Date:  2015-10-05       Impact factor: 17.088

5.  Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Authors:  Manuela Neumann; Deepak M Sampathu; Linda K Kwong; Adam C Truax; Matthew C Micsenyi; Thomas T Chou; Jennifer Bruce; Theresa Schuck; Murray Grossman; Christopher M Clark; Leo F McCluskey; Bruce L Miller; Eliezer Masliah; Ian R Mackenzie; Howard Feldman; Wolfgang Feiden; Hans A Kretzschmar; John Q Trojanowski; Virginia M-Y Lee
Journal:  Science       Date:  2006-10-06       Impact factor: 47.728

6.  Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.

Authors:  Ian R A Mackenzie; Petra Frick; Friedrich A Grässer; Tania F Gendron; Leonard Petrucelli; Neil R Cashman; Dieter Edbauer; Elisabeth Kremmer; Johannes Prudlo; Dirk Troost; Manuela Neumann
Journal:  Acta Neuropathol       Date:  2015-09-15       Impact factor: 17.088

7.  The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

Authors:  Ke Zhang; Christopher J Donnelly; Thomas E Lloyd; Jeffrey D Rothstein; Aaron R Haeusler; Jonathan C Grima; James B Machamer; Peter Steinwald; Elizabeth L Daley; Sean J Miller; Kathleen M Cunningham; Svetlana Vidensky; Saksham Gupta; Michael A Thomas; Ingie Hong; Shu-Ling Chiu; Richard L Huganir; Lyle W Ostrow; Michael J Matunis; Jiou Wang; Rita Sattler
Journal:  Nature       Date:  2015-08-26       Impact factor: 49.962

8.  GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.

Authors:  Brian D Freibaum; Yubing Lu; Rodrigo Lopez-Gonzalez; Nam Chul Kim; Sandra Almeida; Kyung-Ha Lee; Nisha Badders; Marc Valentine; Bruce L Miller; Philip C Wong; Leonard Petrucelli; Hong Joo Kim; Fen-Biao Gao; J Paul Taylor
Journal:  Nature       Date:  2015-08-26       Impact factor: 49.962

9.  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

10.  Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

Authors:  Ana Jovičić; Jerome Mertens; Steven Boeynaems; Elke Bogaert; Noori Chai; Shizuka B Yamada; Joseph W Paul; Shuying Sun; Joseph R Herdy; Gregor Bieri; Nicholas J Kramer; Fred H Gage; Ludo Van Den Bosch; Wim Robberecht; Aaron D Gitler
Journal:  Nat Neurosci       Date:  2015-09       Impact factor: 24.884
  10 in total
  6 in total

Review 1.  There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS.

Authors:  Aaron D Gitler; Hitomi Tsuiji
Journal:  Brain Res       Date:  2016-04-06       Impact factor: 3.252

Review 2.  Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders.

Authors:  Maria Sara Cipolat Mis; Simona Brajkovic; Francesco Tafuri; Nereo Bresolin; Giacomo P Comi; Stefania Corti
Journal:  Mol Neurobiol       Date:  2016-06-28       Impact factor: 5.590

3.  C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

Authors:  Rustam Esanov; Kinsley C Belle; Marka van Blitterswijk; Veronique V Belzil; Rosa Rademakers; Dennis W Dickson; Leonard Petrucelli; Kevin B Boylan; Derek M Dykxhoorn; Joanne Wuu; Michael Benatar; Claes Wahlestedt; Zane Zeier
Journal:  Exp Neurol       Date:  2015-12-31       Impact factor: 5.330

Review 4.  Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.

Authors:  Chiara Fenoglio; Elio Scarpini; Maria Serpente; Daniela Galimberti
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472

Review 5.  MicroRNA Networks in Cognition and Dementia.

Authors:  Grace S Blount; Layton Coursey; Jannet Kocerha
Journal:  Cells       Date:  2022-06-09       Impact factor: 7.666

Review 6.  Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia.

Authors:  Ranjan Batra; Chris W Lee
Journal:  Front Cell Neurosci       Date:  2017-07-06       Impact factor: 5.505
  6 in total

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