Results 31 to 40 of about 8,444 (178)

Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins. [PDF]

Brain, 2023
Abstract Protein quality control pathways have evolved to ensure the fidelity of protein synthesis and efficiently clear potentially toxic protein species. Defects in ribosome-associated quality control and its associated factors have been implicated in the accumulation of aberrant proteins and neurodegeneration.
Viera Ortiz AP, Cajka G, Olatunji OA, Mikytuck B, Shalem O, Lee EB.   +5 more
europepmc   +5 more sources

Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons. [PDF]

Elife, 2023
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hallmark of ALS/FTD pathology is the presence of dipeptide repeat (DPR) proteins, produced from both
Sonobe Y, Lee S, Krishnan G, Gu Y, Kwon DY, Gao FB, Roos RP, Kratsios P.   +7 more
europepmc   +2 more sources

Arginine-rich dipeptide-repeat proteins as phase disruptors in C9-ALS/FTD. [PDF]

Emerg Top Life Sci, 2020
A hexanucleotide repeat expansion GGGGCC (G4C2) within chromosome 9 open reading frame 72 (C9orf72) is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD). This seminal realization has rapidly focused our attention to the non-canonical translation (RAN translation) of the repeat expansion, which ...
Odeh HM, Shorter J.
europepmc   +4 more sources

SFPQ regulates the accumulation of RNA foci and dipeptide repeat proteins from the expanded repeat mutation in C9orf72. [PDF]

J Cell Sci, 2021
ABSTRACT The expanded GGGGCC repeat mutation in the C9orf72 gene is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The expansion is transcribed to sense and antisense RNA, which form RNA foci and bind cellular proteins.
Malnar M, Rogelj B.
europepmc   +3 more sources

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS [PDF]

Human Molecular Genetics, 2014
The expansion of the GGGGCC hexanucleotide repeat in the non-coding region of the chromosome 9 open-reading frame 72 (C9orf72) gene is the most common cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) (c9FTD/ALS). Recently, it was reported that an unconventional mechanism of repeat-associated non-ATG (RAN) translation ...
Mai, Yamakawa, Daisuke, Ito, Takao, Honda, Ken-ichiro, Kubo, Mariko, Noda, Kazunori, Nakajima, Norihiro, Suzuki   +6 more
openaire   +2 more sources

Poly(ADP-ribose) promotes toxicity of <i>C9ORF72</i> arginine-rich dipeptide repeat proteins. [PDF]

Sci Transl Med, 2022
Arginine-rich dipeptide repeat proteins (R-DPRs), abnormal translational products of a GGGGCC hexanucleotide repeat expansion in C9ORF72 , play a critical role in C9ORF72 -related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), the most common genetic form of the ...
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.   +27 more
europepmc   +3 more sources

CRISPR deletion of the C9ORF72 promoter in ALS/FTD patient motor neurons abolishes production of dipeptide repeat proteins and rescues neurodegeneration. [PDF]

Acta Neuropathol, 2020
GGGGCC (G4C2) repeat expansion in the first intron of C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Krishnan G, Zhang Y, Gu Y, Kankel MW, Gao FB, Almeida S.   +5 more
europepmc   +2 more sources

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation [PDF]

Human Molecular Genetics, 2016
The expansion of the GGGGCC hexanucleotide repeat in the non-coding region of the Chromosome 9 open-reading frame 72 (C9orf72) gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). This genetic alteration leads to the accumulation of five types of poly-dipeptides translated from the GGGGCC ...
Kohsuke, Kanekura, Takuya, Yagi, Alexander J, Cammack, Jana, Mahadevan, Masahiko, Kuroda, Matthew B, Harms, Timothy M, Miller, Fumihiko, Urano   +7 more
openaire   +2 more sources

The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD

Acta Neuropathologica Communications, 2020
An intronic hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Fang He, Brittany N. Flores, Amy Krans, Michelle Frazer, Sam Natla, Sarjina Niraula, Olamide Adefioye, Sami J. Barmada, Peter K. Todd   +8 more
doaj   +1 more source

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations [PDF]

Acta Neuropathologica, 2013
Hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of frontotemporal dementia and motor neuron disease. Recently, unconventional non-ATG translation of the expanded hexanucleotide repeat, resulting in the production and aggregation of di-peptide repeat (DPR) proteins (poly-GA, -GR and GP), was identified as a potential ...
Mackenzie, Ian R., Arzberger, Thomas, Kremmer, Elisabeth, Troost, Dirk, Lorenzi, Stefan, Mori, Kohji, Weng, Shih-Ming, Haass, Christian, Kretzschmar, Hans A., Edbauer, Dieter, Neumann, Manuela   +10 more
openaire   +5 more sources