Literature DB >> 27151634

C9ORF72-ALS/FTD: Transgenic Mice Make a Come-BAC.

Lindsey R Hayes1, Jeffrey D Rothstein2.   

Abstract

For five years, since the landmark discovery of the C9ORF72 hexanucleotide repeat expansion in ALS/FTD, a transgenic mouse model has remained elusive. Now, two laboratories (Liu et al., 2016; Jiang et al., 2016) report the development of BAC transgenic mice that recapitulate features of the human disease.
Copyright © 2016 Elsevier Inc. All rights reserved.

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Year:  2016        PMID： 27151634      PMCID： PMC7045171          DOI： 10.1016/j.neuron.2016.04.026

Source DB:  PubMed          Journal:  Neuron        ISSN： 0896-6273            Impact factor:   17.173


  16 in total

1.  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

Review 2.  Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.

Authors:  Tiffany W Todd; Leonard Petrucelli
Journal:  J Neurochem       Date:  2016-06-15       Impact factor: 5.372

3.  C9orf72 is required for proper macrophage and microglial function in mice.

Authors:  J G O'Rourke; L Bogdanik; A Yáñez; D Lall; A J Wolf; A K M G Muhammad; R Ho; S Carmona; J P Vit; J Zarrow; K J Kim; S Bell; M B Harms; T M Miller; C A Dangler; D M Underhill; H S Goodridge; C M Lutz; R H Baloh
Journal:  Science       Date:  2016-03-18       Impact factor: 47.728

4.  C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

Authors:  Yong-Jie Zhang; Tania F Gendron; Jonathan C Grima; Hiroki Sasaguri; Karen Jansen-West; Ya-Fei Xu; Rebecca B Katzman; Jennifer Gass; Melissa E Murray; Mitsuru Shinohara; Wen-Lang Lin; Aliesha Garrett; Jeannette N Stankowski; Lillian Daughrity; Jimei Tong; Emilie A Perkerson; Mei Yue; Jeannie Chew; Monica Castanedes-Casey; Aishe Kurti; Zizhao S Wang; Amanda M Liesinger; Jeremy D Baker; Jie Jiang; Clotilde Lagier-Tourenne; Dieter Edbauer; Don W Cleveland; Rosa Rademakers; Kevin B Boylan; Guojun Bu; Christopher D Link; Chad A Dickey; Jeffrey D Rothstein; Dennis W Dickson; John D Fryer; Leonard Petrucelli
Journal:  Nat Neurosci       Date:  2016-03-21       Impact factor: 24.884

5.  Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice.

Authors:  Owen M Peters; Gabriela Toro Cabrera; Helene Tran; Tania F Gendron; Jeanne E McKeon; Jake Metterville; Alexandra Weiss; Nicholas Wightman; Johnny Salameh; Juyhun Kim; Huaming Sun; Kevin B Boylan; Dennis Dickson; Zack Kennedy; Ziqiang Lin; Yong-Jie Zhang; Lillian Daughrity; Chris Jung; Fen-Biao Gao; Peter C Sapp; H Robert Horvitz; Daryl A Bosco; Solange P Brown; Pieter de Jong; Leonard Petrucelli; Chris Mueller; Robert H Brown
Journal:  Neuron       Date:  2015-12-02       Impact factor: 17.173

6.  RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.

Authors:  Tao Zu; Yuanjing Liu; Monica Bañez-Coronel; Tammy Reid; Olga Pletnikova; Jada Lewis; Timothy M Miller; Matthew B Harms; Annet E Falchook; S H Subramony; Lyle W Ostrow; Jeffrey D Rothstein; Juan C Troncoso; Laura P W Ranum
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-18       Impact factor: 11.205

7.  A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Authors:  Renate K Hukema; Fréderike W Riemslagh; Shamiram Melhem; Herma C van der Linde; Lies-Anne Wfm Severijnen; Dieter Edbauer; Alex Maas; Nicolas Charlet-Berguerand; Rob Willemsen; John C van Swieten
Journal:  Acta Neuropathol Commun       Date:  2014-12-13       Impact factor: 7.801

8.  C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.

Authors:  Max Koppers; Anna M Blokhuis; Henk-Jan Westeneng; Margo L Terpstra; Caroline A C Zundel; Renata Vieira de Sá; Raymond D Schellevis; Adrian J Waite; Derek J Blake; Jan H Veldink; Leonard H van den Berg; R Jeroen Pasterkamp
Journal:  Ann Neurol       Date:  2015-07-03       Impact factor: 10.422

9.  Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

Authors:  Adrian J Waite; Dirk Bäumer; Simon East; James Neal; Huw R Morris; Olaf Ansorge; Derek J Blake
Journal:  Neurobiol Aging       Date:  2014-01-17       Impact factor: 4.673

10.  C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

Authors:  Amanda Atanasio; Vilma Decman; Derek White; Meg Ramos; Burcin Ikiz; Hoi-Ching Lee; Chia-Jen Siao; Susannah Brydges; Elizabeth LaRosa; Yu Bai; Wen Fury; Patricia Burfeind; Ralica Zamfirova; Gregg Warshaw; Jamie Orengo; Adelekan Oyejide; Michael Fralish; Wojtek Auerbach; William Poueymirou; Jan Freudenberg; Guochun Gong; Brian Zambrowicz; David Valenzuela; George Yancopoulos; Andrew Murphy; Gavin Thurston; Ka-Man Venus Lai
Journal:  Sci Rep       Date:  2016-03-16       Impact factor: 4.379
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  8 in total

1.  Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.

Authors:  Amrutha Pattamatta; Lien Nguyen; Hailey R Olafson; Marina M Scotti; Lauren A Laboissonniere; Jared Richardson; J Andrew Berglund; Tao Zu; Eric T Wang; Laura P W Ranum
Journal:  Hum Mol Genet       Date:  2021-02-25       Impact factor: 6.150

2.  Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.

Authors:  Martin H Schludi; Lore Becker; Lillian Garrett; Tania F Gendron; Qihui Zhou; Franziska Schreiber; Bastian Popper; Leda Dimou; Tim M Strom; Juliane Winkelmann; Anne von Thaden; Kristin Rentzsch; Stephanie May; Meike Michaelsen; Benjamin M Schwenk; Jing Tan; Benedikt Schoser; Marianne Dieterich; Leonard Petrucelli; Sabine M Hölter; Wolfgang Wurst; Helmut Fuchs; Valerie Gailus-Durner; Martin Hrabe de Angelis; Thomas Klopstock; Thomas Arzberger; Dieter Edbauer
Journal:  Acta Neuropathol       Date:  2017-04-13       Impact factor: 17.088

3.  Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

Authors:  Carina Lehmer; Patrick Oeckl; Jochen H Weishaupt; Alexander E Volk; Janine Diehl-Schmid; Matthias L Schroeter; Martin Lauer; Johannes Kornhuber; Johannes Levin; Klaus Fassbender; Bernhard Landwehrmeyer; Martin H Schludi; Thomas Arzberger; Elisabeth Kremmer; Andrew Flatley; Regina Feederle; Petra Steinacker; Patrick Weydt; Albert C Ludolph; Dieter Edbauer; Markus Otto
Journal:  EMBO Mol Med       Date:  2017-07       Impact factor: 12.137

4.  High content screen for identifying small-molecule LC3B-localization modulators in a renal cancer cell line.

Authors:  Likhitha Kolla; David S Heo; Daniel P Rosenberg; Sara A Barlow; Anna A Maximova; Emily E Cassio; William J Buchser
Journal:  Sci Data       Date:  2018-06-26       Impact factor: 6.444

Review 5.  Pathogenesis of Frontotemporal Lobar Degeneration: Insights From Loss of Function Theory and Early Involvement of the Caudate Nucleus.

Authors:  Gen Sobue; Shinsuke Ishigaki; Hirohisa Watanabe
Journal:  Front Neurosci       Date:  2018-07-12       Impact factor: 4.677

6.  Widespread loss of the silencing epigenetic mark H3K9me3 in astrocytes and neurons along with hippocampal-dependent cognitive impairment in C9orf72 BAC transgenic mice.

Authors:  Nur Jury; Sebastian Abarzua; Ivan Diaz; Miguel V Guerra; Estibaliz Ampuero; Paula Cubillos; Pablo Martinez; Andrea Herrera-Soto; Cristian Arredondo; Fabiola Rojas; Marcia Manterola; Adriana Rojas; Martín Montecino; Lorena Varela-Nallar; Brigitte van Zundert
Journal:  Clin Epigenetics       Date:  2020-02-18       Impact factor: 6.551

7.  A mouse model with widespread expression of the C9orf72-linked glycine-arginine dipeptide displays non-lethal ALS/FTD-like phenotypes.

Authors:  Brandie Morris Verdone; Maria Elena Cicardi; Xinmei Wen; Sindhu Sriramoji; Katelyn Russell; Shashirekha S Markandaiah; Brigid K Jensen; Karthik Krishnamurthy; Aaron R Haeusler; Piera Pasinelli; Davide Trotti
Journal:  Sci Rep       Date:  2022-04-04       Impact factor: 4.996

Review 8.  Interplay between immunity and amyotrophic lateral sclerosis: Clinical impact.

Authors:  Fabiola De Marchi; Ivana Munitic; Amedeo Amedei; James D Berry; Eva L Feldman; Eleonora Aronica; Giovanni Nardo; Donatienne Van Weehaeghe; Elena Niccolai; Nikolina Prtenjaca; Stacey A Sakowski; Caterina Bendotti; Letizia Mazzini
Journal:  Neurosci Biobehav Rev       Date:  2021-06-19       Impact factor: 9.052
  8 in total

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