Literature DB >> 26308896

Neurodegeneration: Problems at the nuclear pore.

Bennett W Fox1, Randal S Tibbetts1.   

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Year:  2015        PMID： 26308896     DOI： 10.1038/nature15208

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  19 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.  Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.

Authors:  Clotilde Lagier-Tourenne; Michael Baughn; Frank Rigo; Shuying Sun; Patrick Liu; Hai-Ri Li; Jie Jiang; Andrew T Watt; Seung Chun; Melanie Katz; Jinsong Qiu; Ying Sun; Shuo-Chien Ling; Qiang Zhu; Magdalini Polymenidou; Kevin Drenner; Jonathan W Artates; Melissa McAlonis-Downes; Sebastian Markmiller; Kasey R Hutt; Donald P Pizzo; Janet Cady; Matthew B Harms; Robert H Baloh; Scott R Vandenberg; Gene W Yeo; Xiang-Dong Fu; C Frank Bennett; Don W Cleveland; John Ravits
Journal:  Proc Natl Acad Sci U S A       Date:  2013-10-29       Impact factor: 11.205

3.  Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.

Authors:  Jeannie Chew; Tania F Gendron; Mercedes Prudencio; Hiroki Sasaguri; Yong-Jie Zhang; Monica Castanedes-Casey; Chris W Lee; Karen Jansen-West; Aishe Kurti; Melissa E Murray; Kevin F Bieniek; Peter O Bauer; Ena C Whitelaw; Linda Rousseau; Jeannette N Stankowski; Caroline Stetler; Lillian M Daughrity; Emilie A Perkerson; Pamela Desaro; Amelia Johnston; Karen Overstreet; Dieter Edbauer; Rosa Rademakers; Kevin B Boylan; Dennis W Dickson; John D Fryer; Leonard Petrucelli
Journal:  Science       Date:  2015-05-14       Impact factor: 47.728

4.  Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.

Authors:  Peter E A Ash; Kevin F Bieniek; Tania F Gendron; Thomas Caulfield; Wen-Lang Lin; Mariely Dejesus-Hernandez; Marka M van Blitterswijk; Karen Jansen-West; Joseph W Paul; Rosa Rademakers; Kevin B Boylan; Dennis W Dickson; Leonard Petrucelli
Journal:  Neuron       Date:  2013-02-12       Impact factor: 17.173

5.  Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.

Authors:  Ilmin Kwon; Siheng Xiang; Masato Kato; Leeju Wu; Pano Theodoropoulos; Tao Wang; Jiwoong Kim; Jonghyun Yun; Yang Xie; Steven L McKnight
Journal:  Science       Date:  2014-07-31       Impact factor: 47.728

6.  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

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.  Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

Authors:  Jorge Gomez-Deza; Youn-Bok Lee; Claire Troakes; Matthew Nolan; Safa Al-Sarraj; Jean-Marc Gallo; Christopher E Shaw
Journal:  Acta Neuropathol Commun       Date:  2015-06-25       Impact factor: 7.801

10.  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
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  7 in total

Review 1.  Biology and Pathobiology of TDP-43 and Emergent Therapeutic Strategies.

Authors:  Lin Guo; James Shorter
Journal:  Cold Spring Harb Perspect Med       Date:  2017-09-01       Impact factor: 6.915

Review 2.  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

3.  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

4.  An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.

Authors:  Laura Glass; T Renee Dawson; Susan R Wente
Journal:  Adv Biol Regul       Date:  2015-11-11

Review 5.  Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis.

Authors:  Maria Elena Cicardi; Lara Marrone; Mimoun Azzouz; Davide Trotti
Journal:  EMBO J       Date:  2021-03-31       Impact factor: 11.598

6.  Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Authors:  Boris Fichtman; Tamar Harel; Nitzan Biran; Fadia Zagairy; Carolyn D Applegate; Yuval Salzberg; Tal Gilboa; Somaya Salah; Avraham Shaag; Natalia Simanovsky; Houriya Ayoubieh; Nara Sobreira; Giuseppe Punzi; Ciro Leonardo Pierri; Ada Hamosh; Orly Elpeleg; Amnon Harel; Simon Edvardson
Journal:  Am J Hum Genet       Date:  2019-06-06       Impact factor: 11.043

7.  Functions of Gle1 are governed by two distinct modes of self-association.

Authors:  Aaron C Mason; Susan R Wente
Journal:  J Biol Chem       Date:  2020-09-27       Impact factor: 5.157
  7 in total

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