Product References
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS.
Cell
Hung ST,Linares GR,Chang WH,Eoh Y,Krishnan G,Mendonca S,Hong S,Shi Y,Santana M,Kueth C,Macklin-Isquierdo S,Perry S,Duhaime S,Maios C,Chang J,Perez J,Couto A,Lai J,Li Y,Alworth SV,Hendricks E,Wang Y,Zlokovic BV,Dickman DK,Parker JA,Zarnescu DC,Gao FB,Ichida JK
Thu Feb 16 00:00:00 UTC 2023
The mTORC2/AKT/VCP axis is associated with quality control of the stalled translation of poly(GR) dipeptide repeats in C9-ALS/FTD.
The Journal of biological chemistry
Li Y,Geng J,Rimal S,Wang H,Liu X,Lu B,Li S
Wed Mar 01 00:00:00 UTC 2023
Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors.
Human molecular genetics
Ma L,Liang C,Wang J,Chang Q,Wang Y,Zhang W,Du Y,Sadan J,Chen JF
Thu Apr 06 00:00:00 UTC 2023
SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS.
Cell stem cell
Linares GR,Li Y,Chang WH,Rubin-Sigler J,Mendonca S,Hong S,Eoh Y,Guo W,Huang YH,Chang J,Tu S,Dorjsuren N,Santana M,Hung ST,Yu J,Perez J,Chickering M,Cheng TY,Huang CC,Lee SJ,Deng HJ,Bach KT,Gray K,Subramanyam V,Rosenfeld J,Alworth SV,Goodarzi H,Ichida JK
Thu Feb 02 00:00:00 UTC 2023
Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.
Frontiers in cellular neuroscience
Bauer CS,Webster CP,Shaw AC,Kok JR,Castelli LM,Lin YH,Smith EF,Illanes-Álvarez F,Higginbottom A,Shaw PJ,Azzouz M,Ferraiuolo L,Hautbergue GM,Grierson AJ,De Vos KJ
Tue Sep 10 00:00:00 UTC 2024
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.
Science translational medicine
Gao J,Mewborne QT,Girdhar A,Sheth U,Coyne AN,Punathil R,Kang BG,Dasovich M,Veire A,DeJesus Hernandez M,Liu S,Shi Z,Dafinca R,Fouquerel E,Talbot K,Kam TI,Zhang YJ,Dickson D,Petrucelli L,van Blitterswijk M,Guo L,Dawson TM,Dawson VL,Leung AKL,Lloyd TE,Gendron TF,Rothstein JD,Zhang K
Wed Sep 14 00:00:00 UTC 2022
SFPQ regulates the accumulation of RNA foci and dipeptide repeat proteins from the expanded repeat mutation in C9orf72.
Journal of cell science
Malnar M,Rogelj B
Fri Feb 19 00:00:00 UTC 2021
Co-expression of C9orf72 related dipeptide-repeats over 1000 repeat units reveals age- and combination-specific phenotypic profiles in Drosophila.
Acta neuropathologica communications
West RJH,Sharpe JL,Voelzmann A,Munro AL,Hahn I,Baines RA,Pickering-Brown S
Mon Sep 07 00:00:00 UTC 2020
The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALS.
The EMBO journal
Kawabe Y,Mori K,Yamashita T,Gotoh S,Ikeda M
Thu Oct 01 00:00:00 UTC 2020
Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models.
Human molecular genetics
Liang C,Shao Q,Zhang W,Yang M,Chang Q,Chen R,Chen JF
Sun Dec 01 00:00:00 UTC 2019
Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons.
JCI insight
Shi Y,Hung ST,Rocha G,Lin S,Linares GR,Staats KA,Seah C,Wang Y,Chickering M,Lai J,Sugawara T,Sagare AP,Zlokovic BV,Ichida JK
Tue Jul 16 00:00:00 UTC 2019
Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons.
JCI insight
Shi Y,Hung ST,Rocha G,Lin S,Linares GR,Staats KA,Seah C,Wang Y,Chickering M,Lai J,Sugawara T,Sagare AP,Zlokovic BV,Ichida JK
Tue Jul 16 00:00:00 UTC 2019
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.
Nature neuroscience
Yamada SB,Gendron TF,Niccoli T,Genuth NR,Grosely R,Shi Y,Glaria I,Kramer NJ,Nakayama L,Fang S,Dinger TJI,Thoeng A,Rocha G,Barna M,Puglisi JD,Partridge L,Ichida JK,Isaacs AM,Petrucelli L,Gitler AD
Sun Sep 01 00:00:00 UTC 2019
Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.
Acta neuropathologica
Riku Y,Duyckaerts C,Boluda S,Plu I,Le Ber I,Millecamps S,Salachas F,Yoshida M,Ando T,Katsuno M,Sobue G,Seilhean D
Fri Nov 01 00:00:00 UTC 2019
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
Cell
Zhang K,Daigle JG,Cunningham KM,Coyne AN,Ruan K,Grima JC,Bowen KE,Wadhwa H,Yang P,Rigo F,Taylor JP,Gitler AD,Rothstein JD,Lloyd TE
Thu May 03 00:00:00 UTC 2018
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
Cell
Zhang K,Daigle JG,Cunningham KM,Coyne AN,Ruan K,Grima JC,Bowen KE,Wadhwa H,Yang P,Rigo F,Taylor JP,Gitler AD,Rothstein JD,Lloyd TE
Thu May 03 00:00:00 UTC 2018
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
Acta neuropathologica
Swinnen B,Bento-Abreu A,Gendron TF,Boeynaems S,Bogaert E,Nuyts R,Timmers M,Scheveneels W,Hersmus N,Wang J,Mizielinska S,Isaacs AM,Petrucelli L,Lemmens R,Van Damme P,Van Den Bosch L,Robberecht W
Thu Mar 01 00:00:00 UTC 2018
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
Acta neuropathologica
Swinnen B,Bento-Abreu A,Gendron TF,Boeynaems S,Bogaert E,Nuyts R,Timmers M,Scheveneels W,Hersmus N,Wang J,Mizielinska S,Isaacs AM,Petrucelli L,Lemmens R,Van Damme P,Van Den Bosch L,Robberecht W
Thu Mar 01 00:00:00 UTC 2018
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Neuropathology and applied neurobiology
Davidson Y,Robinson AC,Liu X,Wu D,Troakes C,Rollinson S,Masuda-Suzukake M,Suzuki G,Nonaka T,Shi J,Tian J,Hamdalla H,Ealing J,Richardson A,Jones M,Pickering-Brown S,Snowden JS,Hasegawa M,Mann DM
Fri Apr 01 00:00:00 UTC 2016
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Neuropathology and applied neurobiology
Davidson Y,Robinson AC,Liu X,Wu D,Troakes C,Rollinson S,Masuda-Suzukake M,Suzuki G,Nonaka T,Shi J,Tian J,Hamdalla H,Ealing J,Richardson A,Jones M,Pickering-Brown S,Snowden JS,Hasegawa M,Mann DM
Fri Apr 01 00:00:00 UTC 2016
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Neuropathology and applied neurobiology
Davidson Y,Robinson AC,Liu X,Wu D,Troakes C,Rollinson S,Masuda-Suzukake M,Suzuki G,Nonaka T,Shi J,Tian J,Hamdalla H,Ealing J,Richardson A,Jones M,Pickering-Brown S,Snowden JS,Hasegawa M,Mann DM
Fri Apr 01 00:00:00 UTC 2016
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Neuropathology and applied neurobiology
Davidson Y,Robinson AC,Liu X,Wu D,Troakes C,Rollinson S,Masuda-Suzukake M,Suzuki G,Nonaka T,Shi J,Tian J,Hamdalla H,Ealing J,Richardson A,Jones M,Pickering-Brown S,Snowden JS,Hasegawa M,Mann DM
Fri Apr 01 00:00:00 UTC 2016
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Stem cells (Dayton, Ohio)
Dafinca R,Scaber J,Ababneh N,Lalic T,Weir G,Christian H,Vowles J,Douglas AG,Fletcher-Jones A,Browne C,Nakanishi M,Turner MR,Wade-Martins R,Cowley SA,Talbot K
Mon Aug 01 00:00:00 UTC 2016
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Stem cells (Dayton, Ohio)
Dafinca R,Scaber J,Ababneh N,Lalic T,Weir G,Christian H,Vowles J,Douglas AG,Fletcher-Jones A,Browne C,Nakanishi M,Turner MR,Wade-Martins R,Cowley SA,Talbot K
Mon Aug 01 00:00:00 UTC 2016
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
Human molecular genetics
Bennion Callister J,Ryan S,Sim J,Rollinson S,Pickering-Brown SM
Thu Dec 01 00:00:00 UTC 2016
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
Human molecular genetics
Bennion Callister J,Ryan S,Sim J,Rollinson S,Pickering-Brown SM
Thu Dec 01 00:00:00 UTC 2016
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
Human molecular genetics
Bennion Callister J,Ryan S,Sim J,Rollinson S,Pickering-Brown SM
Thu Dec 01 00:00:00 UTC 2016
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
Human molecular genetics
Bennion Callister J,Ryan S,Sim J,Rollinson S,Pickering-Brown SM
Thu Dec 01 00:00:00 UTC 2016
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Nature
Zhang K,Donnelly CJ,Haeusler AR,Grima JC,Machamer JB,Steinwald P,Daley EL,Miller SJ,Cunningham KM,Vidensky S,Gupta S,Thomas MA,Hong I,Chiu SL,Huganir RL,Ostrow LW,Matunis MJ,Wang J,Sattler R,Lloyd TE,Rothstein JD
Thu Sep 03 00:00:00 UTC 2015
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
Acta neuropathologica
Cooper-Knock J,Higginbottom A,Stopford MJ,Highley JR,Ince PG,Wharton SB,Pickering-Brown S,Kirby J,Hautbergue GM,Shaw PJ
Wed Jul 01 00:00:00 UTC 2015
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
Acta neuropathologica
Cooper-Knock J,Higginbottom A,Stopford MJ,Highley JR,Ince PG,Wharton SB,Pickering-Brown S,Kirby J,Hautbergue GM,Shaw PJ
Wed Jul 01 00:00:00 UTC 2015
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Acta neuropathologica
Mackenzie IR,Frick P,Grässer FA,Gendron TF,Petrucelli L,Cashman NR,Edbauer D,Kremmer E,Prudlo J,Troost D,Neumann M
Tue Dec 01 00:00:00 UTC 2015
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Acta neuropathologica
Mackenzie IR,Frick P,Grässer FA,Gendron TF,Petrucelli L,Cashman NR,Edbauer D,Kremmer E,Prudlo J,Troost D,Neumann M
Tue Dec 01 00:00:00 UTC 2015
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Acta neuropathologica
Mackenzie IR,Frick P,Grässer FA,Gendron TF,Petrucelli L,Cashman NR,Edbauer D,Kremmer E,Prudlo J,Troost D,Neumann M
Tue Dec 01 00:00:00 UTC 2015
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Acta neuropathologica
Mackenzie IR,Frick P,Grässer FA,Gendron TF,Petrucelli L,Cashman NR,Edbauer D,Kremmer E,Prudlo J,Troost D,Neumann M
Tue Dec 01 00:00:00 UTC 2015
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Science (New York, N.Y.)
Mizielinska S,Grönke S,Niccoli T,Ridler CE,Clayton EL,Devoy A,Moens T,Norona FE,Woollacott IOC,Pietrzyk J,Cleverley K,Nicoll AJ,Pickering-Brown S,Dols J,Cabecinha M,Hendrich O,Fratta P,Fisher EMC,Partridge L,Isaacs AM
Fri Sep 05 00:00:00 UTC 2014
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Science (New York, N.Y.)
Mizielinska S,Grönke S,Niccoli T,Ridler CE,Clayton EL,Devoy A,Moens T,Norona FE,Woollacott IOC,Pietrzyk J,Cleverley K,Nicoll AJ,Pickering-Brown S,Dols J,Cabecinha M,Hendrich O,Fratta P,Fisher EMC,Partridge L,Isaacs AM
Fri Sep 05 00:00:00 UTC 2014
