These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels. Beckers J; Tharkeshwar AK; Van Damme P Autophagy; 2021 Nov; 17(11):3306-3322. PubMed ID: 33632058 [TBL] [Abstract][Full Text] [Related]
3. A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Yang M; Liang C; Swaminathan K; Herrlinger S; Lai F; Shiekhattar R; Chen JF Sci Adv; 2016 Sep; 2(9):e1601167. PubMed ID: 27617292 [TBL] [Abstract][Full Text] [Related]
4. The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway. Ciura S; Sellier C; Campanari ML; Charlet-Berguerand N; Kabashi E Autophagy; 2016 Aug; 12(8):1406-8. PubMed ID: 27245636 [TBL] [Abstract][Full Text] [Related]
5. Toxic gain-of-function mechanisms in Beckers J; Van Damme P Autophagy; 2024 Sep; 20(9):2102-2104. PubMed ID: 38615685 [TBL] [Abstract][Full Text] [Related]
6. Systemic deregulation of autophagy upon loss of ALS- and FTD-linked C9orf72. Ji YJ; Ugolino J; Brady NR; Hamacher-Brady A; Wang J Autophagy; 2017 Jul; 13(7):1254-1255. PubMed ID: 28319438 [TBL] [Abstract][Full Text] [Related]
7. The progress in Jiang L; Zhang T; Lu K; Qi S Small GTPases; 2022 Jan; 13(1):56-76. PubMed ID: 33663328 [TBL] [Abstract][Full Text] [Related]
8. The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. Webster CP; Smith EF; Bauer CS; Moller A; Hautbergue GM; Ferraiuolo L; Myszczynska MA; Higginbottom A; Walsh MJ; Whitworth AJ; Kaspar BK; Meyer K; Shaw PJ; Grierson AJ; De Vos KJ EMBO J; 2016 Aug; 35(15):1656-76. PubMed ID: 27334615 [TBL] [Abstract][Full Text] [Related]
9. Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Shaw MP; Higginbottom A; McGown A; Castelli LM; James E; Hautbergue GM; Shaw PJ; Ramesh TM Acta Neuropathol Commun; 2018 Nov; 6(1):125. PubMed ID: 30454072 [TBL] [Abstract][Full Text] [Related]
10. Shao Q; Yang M; Liang C; Ma L; Zhang W; Jiang Z; Luo J; Lee JK; Liang C; Chen JF Autophagy; 2020 Sep; 16(9):1635-1650. PubMed ID: 31847700 [TBL] [Abstract][Full Text] [Related]
11. Cell-autonomous immune dysfunction driven by disrupted autophagy in Banerjee P; Mehta AR; Nirujogi RS; Cooper J; James OG; Nanda J; Longden J; Burr K; McDade K; Salzinger A; Paza E; Newton J; Story D; Pal S; Smith C; Alessi DR; Selvaraj BT; Priller J; Chandran S Sci Adv; 2023 Apr; 9(16):eabq0651. PubMed ID: 37083530 [TBL] [Abstract][Full Text] [Related]
12. SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis. Lan Y; Sullivan PM; Hu F Autophagy; 2019 May; 15(5):871-885. PubMed ID: 30696333 [TBL] [Abstract][Full Text] [Related]
13. Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with Barschke P; Oeckl P; Steinacker P; Al Shweiki MR; Weishaupt JH; Landwehrmeyer GB; Anderl-Straub S; Weydt P; Diehl-Schmid J; Danek A; Kornhuber J; Schroeter ML; Prudlo J; Jahn H; Fassbender K; Lauer M; van der Ende EL; van Swieten JC; Volk AE; Ludolph AC; Otto M; J Neurol Neurosurg Psychiatry; 2020 May; 91(5):503-511. PubMed ID: 32132225 [TBL] [Abstract][Full Text] [Related]
14. Cellular and physiological functions of C9ORF72 and implications for ALS/FTD. Pang W; Hu F J Neurochem; 2021 May; 157(3):334-350. PubMed ID: 33259633 [TBL] [Abstract][Full Text] [Related]
15. An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD. Bauer CS; Cohen RN; Sironi F; Livesey MR; Gillingwater TH; Highley JR; Fillingham DJ; Coldicott I; Smith EF; Gibson YB; Webster CP; Grierson AJ; Bendotti C; De Vos KJ Acta Neuropathol; 2022 Sep; 144(3):437-464. PubMed ID: 35876881 [TBL] [Abstract][Full Text] [Related]
17. C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy. Webster CP; Smith EF; Grierson AJ; De Vos KJ Small GTPases; 2018 Sep; 9(5):399-408. PubMed ID: 27768524 [TBL] [Abstract][Full Text] [Related]
18. Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model. Nguyen L; Montrasio F; Pattamatta A; Tusi SK; Bardhi O; Meyer KD; Hayes L; Nakamura K; Banez-Coronel M; Coyne A; Guo S; Laboissonniere LA; Gu Y; Narayanan S; Smith B; Nitsch RM; Kankel MW; Rushe M; Rothstein J; Zu T; Grimm J; Ranum LPW Neuron; 2020 Feb; 105(4):645-662.e11. PubMed ID: 31831332 [TBL] [Abstract][Full Text] [Related]
19. Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. Peters OM; Cabrera GT; Tran H; Gendron TF; McKeon JE; Metterville J; Weiss A; Wightman N; Salameh J; Kim J; Sun H; Boylan KB; Dickson D; Kennedy Z; Lin Z; Zhang YJ; Daughrity L; Jung C; Gao FB; Sapp PC; Horvitz HR; Bosco DA; Brown SP; de Jong P; Petrucelli L; Mueller C; Brown RH Neuron; 2015 Dec; 88(5):902-909. PubMed ID: 26637797 [TBL] [Abstract][Full Text] [Related]
20. [Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)]. Tomiyama H Brain Nerve; 2019 Nov; 71(11):1190-1208. PubMed ID: 31722305 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]