Literature DB >> 34293287

Of mice and men: What a mouse model of microglial C9ORF72 deficiency does-and does not-tell us about human neurodegenerative diseases.

Alice S Chen-Plotkin1.   

Abstract

Expansions in C9ORF72, which cause frontotemporal dementia and amyotrophic lateral sclerosis, result in formation of aberrant peptide and RNA species and decreased expression of the normal gene. In this issue of Neuron, Lall et al. (2021) report the consequences of microglial C9ORF72 deficiency in mouse models of aging and Alzheimer's disease.
Copyright © 2021. Published by Elsevier Inc.

Entities:  

Mesh：

Substances：

Year:  2021        PMID： 34293287      PMCID： PMC8789196          DOI： 10.1016/j.neuron.2021.06.031

Source DB:  PubMed          Journal:  Neuron        ISSN： 0896-6273            Impact factor:   18.688


  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

2.  Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.

Authors:  Yingxiao Shi; Shaoyu Lin; Kim A Staats; Yichen Li; Wen-Hsuan Chang; Shu-Ting Hung; Eric Hendricks; Gabriel R Linares; Yaoming Wang; Esther Y Son; Xinmei Wen; Kassandra Kisler; Brent Wilkinson; Louise Menendez; Tohru Sugawara; Phillip Woolwine; Mickey Huang; Michael J Cowan; Brandon Ge; Nicole Koutsodendris; Kaitlin P Sandor; Jacob Komberg; Vamshidhar R Vangoor; Ketharini Senthilkumar; Valerie Hennes; Carina Seah; Amy R Nelson; Tze-Yuan Cheng; Shih-Jong J Lee; Paul R August; Jason A Chen; Nicholas Wisniewski; Victor Hanson-Smith; T Grant Belgard; Alice Zhang; Marcelo Coba; Chris Grunseich; Michael E Ward; Leonard H van den Berg; R Jeroen Pasterkamp; Davide Trotti; Berislav V Zlokovic; Justin K Ichida
Journal:  Nat Med       Date:  2018-02-05       Impact factor: 53.440

3.  Failure to demonstrate efficacy of aducanumab: An analysis of the EMERGE and ENGAGE trials as reported by Biogen, December 2019.

Authors:  David S Knopman; David T Jones; Michael D Greicius
Journal:  Alzheimers Dement       Date:  2020-11-01       Impact factor: 21.566

4.  Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Authors:  Katherine R Smith; John Damiano; Silvana Franceschetti; Stirling Carpenter; Laura Canafoglia; Michela Morbin; Giacomina Rossi; Davide Pareyson; Sara E Mole; John F Staropoli; Katherine B Sims; Jada Lewis; Wen-Lang Lin; Dennis W Dickson; Hans-Henrik Dahl; Melanie Bahlo; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

Review 5.  Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies.

Authors:  Maria Jimenez-Sanchez; Floriana Licitra; Benjamin R Underwood; David C Rubinsztein
Journal:  Cold Spring Harb Perspect Med       Date:  2017-07-05       Impact factor: 6.915

6.  Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.

Authors:  Qiang Zhu; Jie Jiang; Tania F Gendron; Melissa McAlonis-Downes; Lulin Jiang; Amy Taylor; Sandra Diaz Garcia; Somasish Ghosh Dastidar; Maria J Rodriguez; Patrick King; Yongjie Zhang; Albert R La Spada; Huaxi Xu; Leonard Petrucelli; John Ravits; Sandrine Da Cruz; Clotilde Lagier-Tourenne; Don W Cleveland
Journal:  Nat Neurosci       Date:  2020-04-13       Impact factor: 24.884

7.  C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.

Authors:  Deepti Lall; Ileana Lorenzini; Thomas A Mota; Shaughn Bell; Thomas E Mahan; Jason D Ulrich; Hayk Davtyan; Jessica E Rexach; A K M Ghulam Muhammad; Oksana Shelest; Jesse Landeros; Michael Vazquez; Junwon Kim; Layla Ghaffari; Jacqueline Gire O'Rourke; Daniel H Geschwind; Mathew Blurton-Jones; David M Holtzman; Rita Sattler; Robert H Baloh
Journal:  Neuron       Date:  2021-06-15       Impact factor: 18.688

8.  TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy.

Authors:  Fei Mao; John L Robinson; Travis Unger; Marijan Posavi; Defne A Amado; Lauren Elman; Murray Grossman; David A Wolk; Edward B Lee; Vivianna M Van Deerlin; Sílvia Porta; Virginia M Y Lee; John Q Trojanowski; Alice S Chen-Plotkin
Journal:  Acta Neuropathol       Date:  2021-06-21       Impact factor: 15.887

9.  Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

Authors:  Pietro Fratta; Mark Poulter; Tammaryn Lashley; Jonathan D Rohrer; James M Polke; Jon Beck; Natalie Ryan; Davina Hensman; Sarah Mizielinska; Adrian J Waite; Mang-Ching Lai; Tania F Gendron; Leonard Petrucelli; Elizabeth M C Fisher; Tamas Revesz; Jason D Warren; John Collinge; Adrian M Isaacs; Simon Mead
Journal:  Acta Neuropathol       Date:  2013-07-02       Impact factor: 17.088

10.  C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Authors:  Patrizia Rizzu; Cornelis Blauwendraat; Sasja Heetveld; Emily M Lynes; Melissa Castillo-Lizardo; Ashutosh Dhingra; Elwira Pyz; Markus Hobert; Matthis Synofzik; Javier Simón-Sánchez; Margherita Francescatto; Peter Heutink
Journal:  Acta Neuropathol Commun       Date:  2016-04-14       Impact factor: 7.801
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.