Results 21 to 30 of about 8,444 (178)

Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions [PDF]

Cell Reports, 2020
Nuclear import receptors, also called importins, mediate nuclear import of proteins and chaperone aggregation-prone cargoes (e.g., neurodegeneration-linked RNA-binding proteins [RBPs]) in the cytoplasm. Importins were identified as modulators of cellular
Sinem Usluer, Benjamin Bourgeois, Francesca Simonetti   +2 more
exaly   +4 more sources

Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size. [PDF]

Hum Mol Genet, 2016
C9orf72 expansions are the most common genetic cause of FTLD and MND identified to date. Although being intronic, the expansion is translated into five different dipeptide repeat proteins (DPRs) that accumulate within patients' neurons. Attempts have been made to model DPRs in cell and animals.
Bennion Callister J, Ryan S, Sim J, Rollinson S, Pickering-Brown SM.   +4 more
europepmc   +5 more sources

The Effect of Dipeptide Repeat Proteins on FUS/TDP43-RNA Condensation in C9orf72 ALS/FTD. [PDF]

J Phys Chem B
SUMMARY Condensation of RNA binding proteins (RBPs) with RNA is essential for cellular function. The most common familial cause of the diseases ALS and FTD are C9orf72 repeat expansion disorders that produce dipeptide repeat proteins (DPRs). We explore the hypothesis that DPRs disrupt the native condensation behaviour
Driver MD, Postema J, Onck PR.
europepmc   +6 more sources

Phase Separation of Toxic Dipeptide Repeat Proteins Related to C9orf72 ALS/FTD. [PDF]

Biophys J, 2020
The expansion mutation in the C9orf72 gene is the most common known genetic cause for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation can produce five dipeptide repeat proteins (DPRs), of which three are known to be toxic: poly-PR, poly-GR, and poly-GA. The toxicity of poly-GA is attributed to its aggregation in the
Jafarinia H, van der Giessen E, Onck PR.
europepmc   +7 more sources

Automated Fast-Flow Synthesis of C9orf72 Dipeptide Repeat Proteins

, 2023
An expansion of the hexanucleotide (GGGGCC) repeat sequence in the chromosome 9 open frame 72 (c9orf72) is the most common genetic mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Kohei Sato, Charlotte E. Farquhar, Bradley Pentelute   +2 more
openaire   +2 more sources

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

Science, 2013
Unusual Aggregates Several recent papers have revealed the unexpected genetic and pathological overlap between frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The most common genetic cause is the GGGGCC hexanucleotide repeat expansion upstream of the C9orf72 coding region ...
Mori1, Kohji, Weng, Shih-Ming, Arzberger, Thomas, May, Stephanie, Rentzsch, Kristin, Kremmer, Elisabeth, Schmid, Bettina, Kretzschmar, Hans A., Cruts, Marc, Broeckhoven, Christine Van, Haass, Christian, Edbauer, Dieter   +11 more
openaire   +4 more sources

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

Acta Neuropathologica, 2013
Massive GGGGCC repeat expansion in the first intron of the gene C9orf72 is the most common known cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Despite its intronic localization and lack of an ATG start codon, the repeat region is translated in all three reading frames into aggregating dipeptide ...
Mori, Kohji, Arzberger, Thomas, Grässer, Friedrich A., Gijselinck, Ilse, May, Stephanie, Rentzsch, Kristin, Weng, Shih Ming, Schludi, Martin H., van der Zee, Julie, Cruts, Marc, Van Broeckhoven, Christine, Kremmer, Elisabeth, Kretzschmar, Hans A., Haass, Christian, Edbauer, Dieter   +14 more
core   +6 more sources

Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD [PDF]

Molecular Neurodegeneration, 2020
Background The C9ORF72 hexanucleotide repeat expansion is the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two fatal age-related neurodegenerative diseases.
Nadja S. Andrade, Melina Ramic, Rustam Esanov, Wenjun Liu, Mathew J. Rybin, Gabriel Gaidosh, Abbas Abdallah, Samuel Del’Olio, Tyler C. Huff, Nancy T. Chee, Sadhana Anatha, Tania F. Gendron, Claes Wahlestedt, Yanbin Zhang, Michael Benatar, Christian Mueller, Zane Zeier   +16 more
doaj   +2 more sources

A cell-penetrant peptide blocking C9ORF72 -repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins [PDF]

Science Translational Medicine, 2023
Hexanucleotide repeat expansions in C9ORF72 are the most common genetic cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Studies have shown that the hexanucleotide expansions cause the noncanonical translation of C9ORF72
Castelli, Lydia M, Lin, Ya-Hui, Sanchez-Martinez, Alvaro, Gül, Aytaç, Mohd Imran, Kamallia, Higginbottom, Adrian, Upadhyay, Santosh Kumar, Márkus, Nóra M, Rua Martins, Raquel, Cooper-Knock, Johnathan, Montmasson, Claire, Cohen, Rebecca, Walton, Amy, Bauer, Claudia S, De Vos, Kurt J, Mead, Richard J, Azzouz, Mimoun, Dominguez, Cyril, Ferraiuolo, Laura, Shaw, Pamela J, Whitworth, Alexander J, Hautbergue, Guillaume M   +21 more
core   +7 more sources

Investigation of repeat-associated non-AUG translation and dipeptide repeat proteins in C9orf72-associated ALS/FTD [PDF]

, 2022
A hexanucleotide repeat expansion in the gene C9orf72 is the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Salomonsson, Sally Evita
openaire   +2 more sources