Literature DB >> 27116041

Nucleocytoplasmic transport in C9orf72-mediated ALS/FTD.

Ke Zhang1, Jonathan C Grima1,2, Jeffery D Rothstein1,2,3, Thomas E Lloyd1,2.   

Abstract

A GGGGCC hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies indicate that disruption of nucleocytoplasmic transport pathways play a critical role in the pathogenesis of C9orf72-mediated ALS/FTD (C9-ALS). Here, we discuss mechanisms by which C9orf72 mutations cause nucleocytoplasmic transport deficits and contribute to disease pathogenesis. We review the current literature regarding nucleocytoplasmic transport disruption in C9-ALS, and discuss implications and directions for future research.

Entities:  

Keywords:  Amyotrophic Lateral Sclerosis (ALS); C9orf72; Frontotemporal Dementia (FTD); Nuclear Pore Complex (NPC); Nucleocytoplasmic transport; Ran GTPase; hexanucleotide repeat expansion (HRE)

Mesh：

Substances：

Year:  2016        PMID： 27116041      PMCID： PMC4916865          DOI： 10.1080/19491034.2016.1172152

Source DB:  PubMed          Journal:  Nucleus        ISSN： 1949-1034            Impact factor:   4.197


  36 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

2.  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

3.  The seeds of neurodegeneration: prion-like spreading in ALS.

Authors:  Magdalini Polymenidou; Don W Cleveland
Journal:  Cell       Date:  2011-10-28       Impact factor: 41.582

4.  The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

Authors:  Kohji Mori; Shih-Ming Weng; Thomas Arzberger; Stephanie May; Kristin Rentzsch; Elisabeth Kremmer; Bettina Schmid; Hans A Kretzschmar; Marc Cruts; Christine Van Broeckhoven; Christian Haass; Dieter Edbauer
Journal:  Science       Date:  2013-02-07       Impact factor: 47.728

5.  Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA.

Authors:  Andreas C Woerner; Frédéric Frottin; Daniel Hornburg; Li R Feng; Felix Meissner; Maria Patra; Jörg Tatzelt; Matthias Mann; Konstanze F Winklhofer; F Ulrich Hartl; Mark S Hipp
Journal:  Science       Date:  2015-12-03       Impact factor: 47.728

Review 6.  The changing scene of amyotrophic lateral sclerosis.

Authors:  Wim Robberecht; Thomas Philips
Journal:  Nat Rev Neurosci       Date:  2013-03-06       Impact factor: 34.870

7.  RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.

Authors:  Christopher J Donnelly; Ping-Wu Zhang; Jacqueline T Pham; Aaron R Haeusler; Aaron R Heusler; Nipun A Mistry; Svetlana Vidensky; Elizabeth L Daley; Erin M Poth; Benjamin Hoover; Daniel M Fines; Nicholas Maragakis; Pentti J Tienari; Leonard Petrucelli; Bryan J Traynor; Jiou Wang; Frank Rigo; C Frank Bennett; Seth Blackshaw; Rita Sattler; Jeffrey D Rothstein
Journal:  Neuron       Date:  2013-10-16       Impact factor: 17.173

8.  Age-dependent deterioration of nuclear pore complexes causes a loss of nuclear integrity in postmitotic cells.

Authors:  Maximiliano A D'Angelo; Marcela Raices; Siler H Panowski; Martin W Hetzer
Journal:  Cell       Date:  2009-01-23       Impact factor: 41.582

9.  C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

Authors:  Aaron R Haeusler; Christopher J Donnelly; Goran Periz; Eric A J Simko; Patrick G Shaw; Min-Sik Kim; Nicholas J Maragakis; Juan C Troncoso; Akhilesh Pandey; Rita Sattler; Jeffrey D Rothstein; Jiou Wang
Journal:  Nature       Date:  2014-03-05       Impact factor: 49.962

10.  The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.

Authors:  Naoki Suzuki; Asif M Maroof; Florian T Merkle; Kathryn Koszka; Atsushi Intoh; Ian Armstrong; Rob Moccia; Brandi N Davis-Dusenbery; Kevin Eggan
Journal:  Nat Neurosci       Date:  2013-11-03       Impact factor: 24.884
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  13 in total

1.  Analysis of a Strong Suppressor of Segregation Distorter in Drosophila melanogaster.

Authors:  Rayla Greenberg Temin
Journal:  Genetics       Date:  2020-06-19       Impact factor: 4.562

2.  Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity.

Authors:  Juan A Ortega; Elizabeth L Daley; Sukhleen Kour; Marisa Samani; Liana Tellez; Haley S Smith; Elizabeth A Hall; Y Taylan Esengul; Yung-Hsu Tsai; Tania F Gendron; Christopher J Donnelly; Teepu Siddique; Jeffrey N Savas; Udai B Pandey; Evangelos Kiskinis
Journal:  Neuron       Date:  2020-02-13       Impact factor: 17.173

Review 3.  Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD.

Authors:  Claudia Fallini; Bilal Khalil; Courtney L Smith; Wilfried Rossoll
Journal:  Neurobiol Dis       Date:  2020-03-14       Impact factor: 5.996

4.  C9orf72-associated arginine-rich dipeptide repeats induce RNA-dependent nuclear accumulation of Staufen in neurons.

Authors:  Eun Seon Kim; Chang Geon Chung; Jeong Hyang Park; Byung Su Ko; Sung Soon Park; Yoon Ha Kim; In Jun Cha; Jaekwang Kim; Chang Man Ha; Hyung-Jun Kim; Sung Bae Lee
Journal:  Hum Mol Genet       Date:  2021-06-09       Impact factor: 6.150

Review 5.  Types of nuclear localization signals and mechanisms of protein import into the nucleus.

Authors:  Juane Lu; Tao Wu; Biao Zhang; Suke Liu; Wenjun Song; Jianjun Qiao; Haihua Ruan
Journal:  Cell Commun Signal       Date:  2021-05-22       Impact factor: 5.712

6.  An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.

Authors:  Jonathan Li; Ryan G Lim; Julia A Kaye; Victoria Dardov; Alyssa N Coyne; Jie Wu; Pamela Milani; Andrew Cheng; Terri G Thompson; Loren Ornelas; Aaron Frank; Miriam Adam; Maria G Banuelos; Malcolm Casale; Veerle Cox; Renan Escalante-Chong; J Gavin Daigle; Emilda Gomez; Lindsey Hayes; Ronald Holewenski; Susan Lei; Alex Lenail; Leandro Lima; Berhan Mandefro; Andrea Matlock; Lindsay Panther; Natasha Leanna Patel-Murray; Jacqueline Pham; Divya Ramamoorthy; Karen Sachs; Brandon Shelley; Jennifer Stocksdale; Hannah Trost; Mark Wilhelm; Vidya Venkatraman; Brook T Wassie; Stacia Wyman; Stephanie Yang; Jennifer E Van Eyk; Thomas E Lloyd; Steven Finkbeiner; Ernest Fraenkel; Jeffrey D Rothstein; Dhruv Sareen; Clive N Svendsen; Leslie M Thompson
Journal:  iScience       Date:  2021-10-12

Review 7.  Emerging Connections between Nuclear Pore Complex Homeostasis and ALS.

Authors:  Sunandini Chandra; C Patrick Lusk
Journal:  Int J Mol Sci       Date:  2022-01-25       Impact factor: 5.923

Review 8.  Failure to Deliver and Translate-New Insights into RNA Dysregulation in ALS.

Authors:  Alyssa N Coyne; Benjamin L Zaepfel; Daniela C Zarnescu
Journal:  Front Cell Neurosci       Date:  2017-08-17       Impact factor: 5.505

9.  C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression.

Authors:  Yu Sun; Aziz Eshov; Jeffrey Zhou; Atagun U Isiktas; Junjie U Guo
Journal:  Nat Commun       Date:  2020-07-03       Impact factor: 14.919

10.  Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions.

Authors:  Saskia Hutten; Sinem Usluer; Benjamin Bourgeois; Francesca Simonetti; Hana M Odeh; Charlotte M Fare; Mareike Czuppa; Marian Hruska-Plochan; Mario Hofweber; Magdalini Polymenidou; James Shorter; Dieter Edbauer; Tobias Madl; Dorothee Dormann
Journal:  Cell Rep       Date:  2020-12-22       Impact factor: 9.995
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