Literature DB >> 27154207

Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD.

Sandra Almeida1, Fen-Biao Gao1.   

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Year:  2016        PMID： 27154207      PMCID： PMC4910530          DOI： 10.15252/embj.201694578

Source DB:  PubMed          Journal:  EMBO J        ISSN： 0261-4189            Impact factor:   11.598


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  12 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.  Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.

Authors:  Chantal Sellier; Maria-Letizia Campanari; Camille Julie Corbier; Angeline Gaucherot; Isabelle Kolb-Cheynel; Mustapha Oulad-Abdelghani; Frank Ruffenach; Adeline Page; Sorana Ciura; Edor Kabashi; Nicolas Charlet-Berguerand
Journal:  EMBO J       Date:  2016-04-21       Impact factor: 11.598

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.  Beclin 1, an autophagy gene essential for early embryonic development, is a haploinsufficient tumor suppressor.

Authors:  Zhenyu Yue; Shengkan Jin; Chingwen Yang; Arnold J Levine; Nathaniel Heintz
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-01       Impact factor: 11.205

5.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

6.  Exome sequencing uncovers hidden pathways in familial and sporadic ALS.

Authors:  Conceição Bettencourt; Henry Houlden
Journal:  Nat Neurosci       Date:  2015-05       Impact factor: 24.884

7.  Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.

Authors:  Sandra Almeida; Eduardo Gascon; Hélène Tran; Hsin Jung Chou; Tania F Gendron; Steven Degroot; Andrew R Tapper; Chantal Sellier; Nicolas Charlet-Berguerand; Anna Karydas; William W Seeley; Adam L Boxer; Leonard Petrucelli; Bruce L Miller; Fen-Biao Gao
Journal:  Acta Neuropathol       Date:  2013-07-09       Impact factor: 17.088

8.  Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia.

Authors:  Ryan J H West; Yubing Lu; Bruno Marie; Fen-Biao Gao; Sean T Sweeney
Journal:  J Cell Biol       Date:  2015-03-23       Impact factor: 10.539

9.  Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.

Authors:  Andrew C Elden; Hyung-Jun Kim; Michael P Hart; Alice S Chen-Plotkin; Brian S Johnson; Xiaodong Fang; Maria Armakola; Felix Geser; Robert Greene; Min Min Lu; Arun Padmanabhan; Dana Clay-Falcone; Leo McCluskey; Lauren Elman; Denise Juhr; Peter J Gruber; Udo Rüb; Georg Auburger; John Q Trojanowski; Virginia M-Y Lee; Vivianna M Van Deerlin; Nancy M Bonini; Aaron D Gitler
Journal:  Nature       Date:  2010-08-26       Impact factor: 49.962

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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  5 in total

Review 1.  Autophagy in health and disease: From molecular mechanisms to therapeutic target.

Authors:  Guang Lu; Yu Wang; Yin Shi; Zhe Zhang; Canhua Huang; Weifeng He; Chuang Wang; Han-Ming Shen
Journal:  MedComm (2020)       Date:  2022-07-10

Review 2.  Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.

Authors:  Fen-Biao Gao; Sandra Almeida; Rodrigo Lopez-Gonzalez
Journal:  EMBO J       Date:  2017-09-15       Impact factor: 14.012

3.  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

Review 4.  Molecular Genetics of Frontotemporal Dementia Elucidated by Drosophila Models-Defects in Endosomal⁻Lysosomal Pathway.

Authors:  Sarah E Vandal; Xiaoyue Zheng; S Tariq Ahmad
Journal:  Int J Mol Sci       Date:  2018-06-09       Impact factor: 5.923

Review 5.  Autophagy and ALS: mechanistic insights and therapeutic implications.

Authors:  Jason P Chua; Hortense De Calbiac; Edor Kabashi; Sami J Barmada
Journal:  Autophagy       Date:  2021-05-31       Impact factor: 16.016
  5 in total

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