Results 101 to 110 of about 8,444 (178)

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

, 2018
[[abstract]]Expansion of a GGGGCC hexanucleotide repeat upstream of the C9orf72 coding region is the most common cause of familial frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD/ALS), but the pathomechanisms involved are ...
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
core  

NToxSEM: Enhancing prediction of neurotoxic peptides and neurotoxins using a stacked ensemble‐based multimodal framework

Protein Science, Volume 35, Issue 7, July 2026.
Abstract The safety assessment of therapeutic proteins and genetically modified (GM) organisms relies heavily on the rapid and accurate prediction of peptides, and proteins that exhibit neurotoxic activity. Since experimental methods are time‐consuming and costly, they are not technically suitable for the cost‐effective characterization of neurotoxic ...
Watshara Shoombuatong, Nalini Schaduangrat, S. M. Hasan Mahmud, Saeed Ahmed   +3 more
wiley   +1 more source

In vitro and pathological investigation of dipeptide repeat proteins in C9orf72 linked frontotemporal dementia and amyotrophic lateral sclerosis [PDF]

, 2018
An intronic hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of two clinically, genetically and pathologically overlapping neurodegenerative disorders, frontotemporal dementia (FTD) and amyotrophic lateral sclerosis ...
Gittings, Lauren Marie
core  

Neural Organoid Models as a Platform for Studying Disease Mechanisms in Amyotrophic Lateral Sclerosis

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
Amyotrophic lateral sclerosis (ALS) involves widespread cortical pathology beyond the motor cortex. Human‐induced pluripotent stem cell‐derived neural organoids model cortical tissue in vitro and provide a physiologically relevant platform to study disease mechanisms in ALS.
Kristel N. Eigenhuis, Roberto Montoro Ferrer, R. Jeroen Pasterkamp   +2 more
wiley   +1 more source

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

, 2016
Dipeptide repeat (DPR) proteins are toxic in various models of FTD/ALS with GGGGCC (G4C2) repeat expansion. However, it is unclear whether nuclear G4C2 RNA foci also induce neurotoxicity.
Almeida, Sandra, Moore, Jill E, Petrucelli, Leonard, Lu, Yubing, Du, Xing, Tran, Helene, Gendron, Tania F., Chalasani, UmaDevi, Nickerson, Jeffrey A., Weng, Zhiping, Gao, Fen-Biao   +10 more
core   +1 more source

An N‐acetyltransferase‐MAPK fusion protein modulates developmental reprogramming in Physcomitrium patens

New Phytologist, Volume 251, Issue 1, Page 321-339, July 2026.
Summary We discovered a previously uncharacterized moss‐specific protein, Rosetta NATD‐MAPK 1 (RAK1) in Physcomitrium patens, which uniquely integrates MAP kinase (MAPK)‐dependent signaling with N‐acetyltransferase activity. Through phenotypical and biochemical analyses, we characterized RAK1 function in the regulation of the 2D‐to‐3D growth transition.
Cloe de Luxán‐Hernández, Thomas J. Ammitsøe, Jakob V. Kanne, Sabrina Stanimirovic, Rocío Redondo‐Rodríguez, Milena E. Roux, Liechi Zhang, Zoe Weeks, Michael Schutzbier, Gerhard Dürnberger, Elisabeth Roitinger, Oliver Spadiut, Masaki Ishikawa, Mitsuyasu Hasebe, Laura A. Moody, Yasin F. Dagdas, Eleazar Rodriguez, Morten Petersen   +17 more
wiley   +1 more source

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

, 2018
[[abstract]]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
Rentzsch, Kristin, Mori, Kohji, Arzberger, Thomas, May, Stephanie, Weng, Shih Ming, Van Broeckhoven, Christine, van der Zee, Julie, Cruts, Marc, Haass, Christian, Schludi, Martin H., Kretzschmar, Hans A., Grässer, Friedrich A., Kremmer, Elisabeth, Gijselinck, Ilse, Edbauer, Dieter   +14 more
core  

Reactivation Of Nonsense-Mediated Mrna Decay Protects Against C9Orf72 Dipeptide-Repeat Neurotoxicity

, 2019
Amyotrophic lateral sclerosis is a deleterious neurodegenerative disease without effective treatment options. Recent studies have indicated the involvement of the dysregulation of RNA metabolism in the pathogenesis of amyotrophic lateral sclerosis. Among
Bao, Puhua, Qin, Meiling, Xu, Wangchao, Wang, Haifang, Wang, Ruiqi, Jiang, Xin, Xu, Jin, Wang, Tao, Lorenzini, Ileana, Liao, Lujian, Sattler, Rita, Yang, Yi   +11 more
core   +1 more source

Racemisation of Amino Acids: From Synthetic Challenge to Biological Significance

ChemBioChem, Volume 27, Issue 11, 15 June 2026.
Racemisation, once considered an undesirable synthetic side reaction, also occurs naturally in amino acids and influences biological processes. Evidence links stereochemical conversion to ageing, protein turnover, and cellular development. This review examines mechanisms, control strategies in synthesis, applications and implications in physiology ...
Othman Al Musaimi
wiley   +1 more source

Non-coding RNA in C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction

Non-coding RNA Research, 2018
A hexanucleotide repeat expansion in the first intron/promoter region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Andrew G.L. Douglas
doaj   +1 more source