Results 11 to 20 of about 8,444 (178)

Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD [PDF]

Frontiers in Cellular Neuroscience, 2021
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide expansion in the chromosome 9 open reading frame 72 gene (C9ORF72). This hexanucleotide expansion consists of GGGGCC (G4C2) repeats
Alexander Schmitz, Alexander Schmitz, João Pinheiro Marques, João Pinheiro Marques, João Pinheiro Marques, Irina Oertig, Irina Oertig, Niran Maharjan, Niran Maharjan, Smita Saxena, Smita Saxena   +10 more
doaj   +9 more sources

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD [PDF]

Cell Reports, 2016
Aberrant hexanucleotide repeat expansions in C9orf72 are the most common genetic change underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Thomas Westergard, Brigid K. Jensen, Xinmei Wen, Jingli Cai, Elizabeth Kropf, Lorraine Iacovitti, Piera Pasinelli, Davide Trotti   +7 more
doaj   +9 more sources

Antibodies inhibit transmission and aggregation of C9orf72 poly‐GA dipeptide repeat proteins [PDF]

EMBO Molecular Medicine, 2017
Cell‐to‐cell transmission of protein aggregates is an emerging theme in neurodegenerative disease. Here, we analyze the dipeptide repeat (DPR) proteins that form neuronal inclusions in patients with hexanucleotide repeat expansion C9orf72, the most ...
Qihui Zhou, Carina Lehmer, Meike Michaelsen, Kohji Mori, Dominik Alterauge, Dirk Baumjohann, Martin H Schludi, Johanna Greiling, Daniel Farny, Andrew Flatley, Regina Feederle, Stephanie May, Franziska Schreiber, Thomas Arzberger, Christoph Kuhm, Thomas Klopstock, Andreas Hermann, Christian Haass, Dieter Edbauer   +18 more
doaj   +8 more sources

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress [PDF]

Neurobiology of Disease, 2018
Expansion of a hexanucleotide repeat (HRE), GGGGCC, in the C9ORF72 gene is recognized as the most common cause of familial amyotrophic lateral sclerosis (FALS), frontotemporal dementia (FTD) and ALS-FTD, as well as 5–10% of sporadic ALS.
Yoshifumi Sonobe, Ghanashyam Ghadge, Katsuhisa Masaki, Ataman Sendoel, Elaine Fuchs, Raymond P. Roos   +5 more
doaj   +7 more sources

C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import [PDF]

eLife, 2020
Disruption of nucleocytoplasmic transport is increasingly implicated in the pathogenesis of neurodegenerative diseases, including ALS caused by a C9orf72 hexanucleotide repeat expansion. However, the mechanism(s) remain unclear.
Lindsey R Hayes, Lauren Duan, Kelly Bowen, Petr Kalab, Jeffrey D Rothstein   +4 more
doaj   +4 more sources

Proline/arginine dipeptide repeat polymers derail protein folding in amyotrophic lateral sclerosis [PDF]

Nature Communications, 2021
The most frequent cause of familial Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are hexanucleotide repeat expansions in the non-coding region of the C9ORF72 gene that are translated into five dipeptide repeat (DPR) proteins ...
Maria Babu, Filippo Favretto, Alain Ibáñez de Opakua, Marija Rankovic, Stefan Becker, Markus Zweckstetter   +5 more
doaj   +7 more sources

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients [PDF]

Acta Neuropathologica Communications, 2018
A hexanucleotide (GGGGCC) repeat expansion in C9ORF72 is the most common genetic contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).
Daniel A. Mordes, Mercedes Prudencio, Lindsey D. Goodman, Joseph R. Klim, Rob Moccia, Francesco Limone, Olli Pietilainen, Kaitavjeet Chowdhary, Dennis W. Dickson, Rosa Rademakers, Nancy M. Bonini, Leonard Petrucelli, Kevin Eggan   +12 more
doaj   +3 more sources

A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons [PDF]

Cell Reports
Summary: Repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Repeat-associated non-AUG (RAN) translation generates neurotoxic dipeptide repeat proteins (DPRs).
Benedikt V. Hölbling, Yashica Gupta, Paolo M. Marchi, Magda L. Atilano, Michael Flower, Enric Ureña, Rajkumar A. Goulden, Hannah K. Dobbs, Eszter Katona, Alla Mikheenko, Ashling Giblin, Ali Raza Awan, Chloe L. Fisher-Ward, Niamh O'Brien, Deniz Vaizoglu, Liam Kempthorne, Katherine M. Wilson, Lauren M. Gittings, Mireia Carcolé, Marc-David Ruepp, Sarah Mizielinska, Linda Partridge, Pietro Fratta, Sarah J. Tabrizi, Bhuvaneish T. Selvaraj, Siddharthan Chandran, Emma Armstrong, Paul Whiting, Adrian M. Isaacs   +28 more
doaj   +8 more sources

How villains are made: The translation of dipeptide repeat proteins in C9ORF72-ALS/FTD [PDF]

Gene, 2023
A hexanucleotide repeat expansion in the C9ORF72 gene is the most common genetic alteration associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These neurodegenerative diseases share genetic, clinical and pathological features.
Heleen M Van 'T Spijker, Sandra Almeida
exaly   +4 more sources

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts [PDF]

Nature Communications, 2018
Repeat-associated non-AUG (RAN) translation contributes to the pathogenic mechanism of several microsatellite expansion diseases. Here the authors delineate the different steps involved in recruiting the ribosome to initiate G4C2 RAN translation to ...
Ricardos Tabet, Laure Schaeffer, Fernande Freyermuth, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin, Clotilde Lagier-Tourenne   +14 more
doaj   +3 more sources