Results 41 to 50 of about 8,444 (178)

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

EMBO Molecular Medicine, 2017
Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively.
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs   +32 more
doaj   +1 more source

DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD. [PDF]

Exp Neurol
Hexanucleotide repeat expansion in C9ORF72 (C9) is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One of the proposed pathogenic mechanisms is the neurotoxicity arising from dipeptide repeat (DPR) proteins produced by repeat-associated non-AUG (RAN) translation.
Fu X, Zhang Z, Hayes LR, Wright N, Asbury J, Li S, Ye Y, Sun S.   +7 more
europepmc   +3 more sources

FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTD

eLife, 2023
Abnormal expansions of GGGGCC repeat sequence in the noncoding region of the C9orf72 gene is the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD).
Yuzo Fujino, Morio Ueyama, Taro Ishiguro, Daisaku Ozawa, Hayato Ito, Toshihiko Sugiki, Asako Murata, Akira Ishiguro, Tania Gendron, Kohji Mori, Eiichi Tokuda, Tomoya Taminato, Takuya Konno, Akihide Koyama, Yuya Kawabe, Toshihide Takeuchi, Yoshiaki Furukawa, Toshimichi Fujiwara, Manabu Ikeda, Toshiki Mizuno, Hideki Mochizuki, Hidehiro Mizusawa, Keiji Wada, Kinya Ishikawa, Osamu Onodera, Kazuhiko Nakatani, Leonard Petrucelli, Hideki Taguchi, Yoshitaka Nagai   +28 more
doaj   +1 more source

Reduced hn RNPA 3 increases C9orf72 repeat RNA levels and dipeptide‐repeat protein deposition [PDF]

EMBO reports, 2016
Intronic hexanucleotide (G4C2) repeat expansions in C9orf72 are genetically associated with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat RNA accumulates within RNA foci but is also translated into disease characterizing dipeptide repeat proteins (DPR).
Kohji Mori, Yoshihiro Nihei, Thomas Arzberger, Qihui Zhou, Ian R Mackenzie, Andreas Hermann, Frank Hanisch, Frits Kamp, Brigitte Nuscher, Denise Orozco, Dieter Edbauer, Christian Haass   +11 more
openaire   +2 more sources

Type I PRMT Inhibition Protects Against C9ORF72 Arginine-Rich Dipeptide Repeat Toxicity

Frontiers in Pharmacology, 2020
Repeat expansion mutations in the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Alan S. Premasiri, Anna L. Gill, Fernando G. Vieira   +2 more
doaj   +1 more source

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. [PDF]

Acta Neuropathol, 2014
Hexanucleotide repeat expansion in C9orf72 is the most common pathogenic mutation in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).
May S, Hornburg D, Schludi MH, Arzberger T, Rentzsch K, Schwenk BM, Grässer FA, Mori K, Kremmer E, Banzhaf-Strathmann J, Mann M, Meissner F, Edbauer D.   +12 more
europepmc   +2 more sources

Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR

Nature Communications, 2019
Repeat-associated non-ATG translation of dipeptide repeat proteins (DPRs) contributes to disease manifestation in FTD/ALS associated with the hexanucleotide repeat expansion of the C9ORF72 gene.
Zongbing Hao, Liu Liu, Zhouteng Tao, Rui Wang, Haigang Ren, Hongyang Sun, Zixuan Lin, Zhixiong Zhang, Chenchen Mu, Jiawei Zhou, Guanghui Wang   +10 more
doaj   +1 more source

The role of dipeptide‐repeat protein pathology in C9orf72 mutation cases [PDF]

Neuropathology and Applied Neurobiology, 2016
Repeat‐associated non‐ATG initiated (RAN) translation leads to the generation and intracellular accumulation of five different dipeptides in cases of C9orf72 mutation. Understanding the potential toxicity of these dipeptides is a focus of active investigation.
openaire   +2 more sources

Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

Acta Neuropathologica Communications, 2019
Hexanucleotide repeat expansions of variable size in C9orf72 are the most prevalent genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia.
Javier Morón-Oset, Tessa Supèr, Jacqueline Esser, Adrian M. Isaacs, Sebastian Grönke, Linda Partridge   +5 more
doaj   +1 more source

Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules

Cell Reports, 2023
Summary: A hexanucleotide (GGGGCC)n repeat expansion in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins, and/or loss of C9orf72 ...
Philip McGoldrick, Agnes Lau, Zhipeng You, Thomas M. Durcan, Janice Robertson   +4 more
doaj   +1 more source