Literature DB >> 26347457

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

Priya Gami1, Christina Murray1, Lucia Schottlaender2, Conceição Bettencourt2, Eduardo De Pablo Fernandez3, Ese Mudanohwo4, Sarah Mizielinska5, James M Polke4, Janice L Holton1, Adrian M Isaacs5, Henry Houlden2, Tamas Revesz1, Tammaryn Lashley6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 26347457     DOI： 10.1007/s00401-015-1473-5

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


× No keyword cloud information.
  13 in total

Review 1.  The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.

Authors:  Aaron R Haeusler; Christopher J Donnelly; Jeffrey D Rothstein
Journal:  Nat Rev Neurosci       Date:  2016-05-06       Impact factor: 34.870

2.  C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function.

Authors:  Michael R White; Diana M Mitrea; Peipei Zhang; Christopher B Stanley; Devon E Cassidy; Amanda Nourse; Aaron H Phillips; Michele Tolbert; J Paul Taylor; Richard W Kriwacki
Journal:  Mol Cell       Date:  2019-04-10       Impact factor: 17.970

Review 3.  C9orf72-mediated ALS and FTD: multiple pathways to disease.

Authors:  Rubika Balendra; Adrian M Isaacs
Journal:  Nat Rev Neurol       Date:  2018-09       Impact factor: 42.937

4.  Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.

Authors:  Fang He; Julie M Jones; Claudia Figueroa-Romero; Dapeng Zhang; Eva L Feldman; Stephen A Goutman; Miriam H Meisler; Brian C Callaghan; Peter K Todd
Journal:  Neurol Genet       Date:  2016-05-11

5.  Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

Authors:  Philip McGoldrick; Ming Zhang; Marka van Blitterswijk; Christine Sato; Danielle Moreno; Shangxi Xiao; Ashley B Zhang; Paul M McKeever; Anna Weichert; Raphael Schneider; Julia Keith; Leonard Petrucelli; Rosa Rademakers; Lorne Zinman; Janice Robertson; Ekaterina Rogaeva
Journal:  Neurology       Date:  2017-12-27       Impact factor: 9.910

6.  RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response.

Authors:  Katelyn M Green; M Rebecca Glineburg; Michael G Kearse; Brittany N Flores; Alexander E Linsalata; Stephen J Fedak; Aaron C Goldstrohm; Sami J Barmada; Peter K Todd
Journal:  Nat Commun       Date:  2017-12-08       Impact factor: 14.919

Review 7.  RNA Misprocessing in C9orf72-Linked Neurodegeneration.

Authors:  Holly V Barker; Michael Niblock; Youn-Bok Lee; Christopher E Shaw; Jean-Marc Gallo
Journal:  Front Cell Neurosci       Date:  2017-07-11       Impact factor: 5.505

Review 8.  Intermediate C9orf72 alleles in neurological disorders: does size really matter?

Authors:  Adeline S L Ng; Eng-King Tan
Journal:  J Med Genet       Date:  2017-07-08       Impact factor: 6.318

9.  In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.

Authors:  Mariely DeJesus-Hernandez; NiCole A Finch; Xue Wang; Tania F Gendron; Kevin F Bieniek; Michael G Heckman; Aliaksei Vasilevich; Melissa E Murray; Linda Rousseau; Rachael Weesner; Anthony Lucido; Meeia Parsons; Jeannie Chew; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Bradley F Boeve; Neill R Graff-Radford; Jan de Boer; Yan W Asmann; Leonard Petrucelli; Kevin B Boylan; Dennis W Dickson; Marka van Blitterswijk; Rosa Rademakers
Journal:  Acta Neuropathol       Date:  2017-05-15       Impact factor: 17.088

10.  Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.

Authors:  Janis Bennion Callister; Sarah Ryan; Joan Sim; Sara Rollinson; Stuart M Pickering-Brown
Journal:  Hum Mol Genet       Date:  2016-12-01       Impact factor: 6.150
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.