Results 131 to 140 of about 8,444 (178)

The molecular mechanism of uptake and cell-to-cell transmission of arginine-containing dipeptide repeat proteins

Abstract Micro-satellite repeat expansion of the 5’ GGGGCC 3’ sequence in the C9orf72 gene is the most common monogenic form of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Alexandra B. Sutter, Benito F. Buksh, Jelena Mojsilovic-Petrovic, Casey Dalton, Nicholas A. Till, Danielle C. Morgan, David W. C. MacMillan, Robert G. Kalb   +7 more
openaire   +2 more sources

C9orf72-Associated Arginine-Rich Dipeptide Repeat Proteins Reduce the Number of Golgi Outposts and Dendritic Branches in Drosophila Neurons. [PDF]

Mol Cells, 2020
Park JH, Chung CG, Seo J, Lee BH, Lee YS, Kweon JH, Lee SB.   +6 more
europepmc   +1 more source

Determination of proteins bound to dipeptide repeats

, 2019
Celični mehanizmi, odgovorni za nastanek patologije, ki vodi v amiotrofično lateralno sklerozo, še niso dobro poznani in trenutno ni zdravil, ki bi bolezen pozdravila.
Markič, Lara
core  

Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in <i>C9orf72</i> Amyotrophic Lateral Sclerosis via ADA. [PDF]

Int J Mol Sci
Hall B, Castelli L, Higginbottom A, He J, Zou LN, Walker H, Yagüe-Capilla M, Wong KE, Burrows DJ, George J, Hamer K, Tanner JM, Kyrgiou-Balli E, Ross R, Garland H, Tonkiss E, George R, Webster CP, Smith EF, Timmons HO, Allsop J, Stefanidis N, Ward BD, Lin YH, Highley JR, Azzouz M, West RJH, Rudd SG, Vos KJ, Shaw PJ, Hautbergue GM, Allen SP.   +31 more
europepmc   +1 more source

Dipeptide Repeat Proteins Associated with C9orf72 ALS/FTD: Understanding How They Are Made and How They Potentiate Disease

, 2018
Nucleotide repeat expansions (NREs) are common mutations found in a multitude of neurodegenerative diseases. The RNA transcripts of NREs have been discovered to undergo repeat-associated non-ATG (RAN) translation, producing repeat poly-peptides that have
Westergard, Thomas Raymond Stefeson
core  

Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients. [PDF]

Cell Rep, 2017
Yin S, Lopez-Gonzalez R, Kunz RC, Gangopadhyay J, Borufka C, Gygi SP, Gao FB, Reed R.   +7 more
europepmc   +1 more source

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS. [PDF]

Neuron, 2015
Tran H, Almeida S, Moore J, Gendron TF, Chalasani U, Lu Y, Du X, Nickerson JA, Petrucelli L, Weng Z, Gao FB.   +10 more
europepmc   +1 more source

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. [PDF]

Neuron, 2015
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.   +26 more
europepmc   +1 more source

Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. [PDF]

Acta Neuropathol, 2015
Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T, German Consortium for Frontotemporal Lobar Degeneration, Bavarian Brain Banking Alliance, Arzberger T, Edbauer D.   +10 more
europepmc   +1 more source

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

AimsFrontotemporal lobar degeneration (FTLD) and motor neurone disease are linked by the possession of a hexanucleotide repeat expansion in C9ORF72, and both show neuronal cytoplasmic inclusions within cerebellar and hippocampal neurones which are TDP-43
Rollinson S, Pickering-Brown S, Mann DMA, Jaros E, Davidson YS, McKeith IG, Burn DJ, Masuda-Suzukake M, Hasegawa M, Baborie A, Griffiths TD, Robinson AC, Perry R   +12 more
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