Results 121 to 130 of about 8,444 (178)

Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation. [PDF]

Acta Neuropathol Commun, 2022
Liu F, Morderer D, Wren MC, Vettleson-Trutza SA, Wang Y, Rabichow BE, Salemi MR, Phinney BS, Oskarsson B, Dickson DW, Rossoll W.   +10 more
europepmc   +1 more source

Antisense dipeptide repeat proteins drive widescale purine metabolism aberration in C9orf72 amyotrophic lateral sclerosis via ADA [PDF]

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by the death of motor neurons leading to paralysis and death, generally 3–5 years post-symptom onset.
Highley, J.R., West, R.J.H., Smith, E.F., Wong, K.E., Shaw, P.J., Tonkiss, E., Allsop, J., Hamer, K., Ross, R., Allen, S.P., Hall, B., Castelli, L., Kyrgiou-Balli, E., Walker, H., Webster, C.P., George, R., Ward, B.D., Rudd, S.G., Hautbergue, G.M., Timmons, H.O., Tanner, J.M., Zou, L.-N., Higginbottom, A., Stefanidis, N., Lin, Y.-H., Azzouz, M., Yagüe-Capilla, M., Vos, K.J.D., He, J., Burrows, D.J., George, J., Garland, H.   +31 more
core   +1 more source

Molecular dynamics of dipeptide repeat proteins implicated in C9orf72 ALS/FTD at amino acid resolution [PDF]

In our cells, there is a crucial transportation system called nucleocytoplasmic transport (NCT), allowing molecules to move between the nucleus and cytoplasm.
Jafarinia, Hamidreza
core   +1 more source

Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cells

, 2021
C9orf72 hexanucleotide repeat expansion (HRE) is the major genetic cause underpinning frontotemporal lobar degeneration (FLTD) and amyotrophic lateral sclerosis (ALS).
Takalo, M. (Mari), Haapasalo, A. (Annakaisa), Huber, N. (Nadine), Remes, A. M. (Anne M.), Hiltunen, M. (Mikko), Rostalski, H. (Hannah), Hoffmann, D. (Dorit), Leskelä, S. (Stina)   +7 more
core  

Mechanism of mitochondrial translation inhibition by C9ORF72 dipeptide repeat proteins.

Proceedings for Annual Meeting of The Japanese Pharmacological Society, 2023
Rio Yamazaki, Kohsuke Kanekura
openaire   +1 more source

Enhanced Degradation of Mutant C9ORF72-Derived Toxic Dipeptide Repeat Proteins by 20S Proteasome Activation Results in Restoration of Proteostasis and Neuroprotection

A hexanucleotide repeat expansion (HRE) in an intron of gene C9ORF72 is the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia.
Jelena Mojsilovic-Petrovic (15183980), Robert G. Kalb (15183983), Allison S. Vanecek (15183977), Jetze J. Tepe (1676119)   +3 more
core   +1 more source

C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7

Acta Neuropathologica Communications
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and combined ALS/FTD.
Karen S. Wang, Julie Smeyers, Kevin Eggan, Bogdan Budnik, Daniel A. Mordes   +4 more
doaj   +1 more source

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9orf72 dipeptide repeat protein toxicity

, 2017
Hexanucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9FTD/ALS).
Nicholas J. Kramer, Julien Couthouis, Amy Li, Gregor Bieri, James Ousey, Michael C. Bassik, Ana Jovičić, David W. Morgens, Rosanna Ma, Michael S. Haney, Aaron D. Gitler   +10 more
core   +1 more source

CRISPR/Cas13d targeting suppresses repeat-associated non-AUG translation of C9orf72 hexanucleotide repeat RNA

The Journal of Clinical Investigation
A hexanucleotide GGGGCC repeat expansion in the non-coding region of the C9orf72 gene is the most common genetic mutation identified in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Honghe Liu, Xiao-Feng Zhao, Yu-Ning Lu, Lindsey R. Hayes, Jiou Wang   +4 more
doaj   +1 more source

The Interaction between Poly-PR Dipeptide Repeat Proteins and the Nuclear Pore Complex [PDF]

Biophysical Journal, 2021
Hamidreza Jafarinia, Erik Van, der Giessen, Patrick R. Onck   +3 more
openaire   +1 more source