Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity. [PDF]
PLoS ONE, 2016 Hexanucleotide repeat expansions in C9orf72 are the most common inherited cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Brittany N Flores +7 more
doaj +2 more sources
Toxicity of C9orf72 -associated dipeptide repeat peptides is modified by commonly used protein tags
Life Science Alliance, 2023 Protein tags affect the toxicity of C9orf72 -associated dipeptide repeat proteins and therefore should be avoided in preclinical models of C9orf72 ALS and FTD.
Javier Morón-Oset +7 more
doaj +5 more sources
Accumulation of dipeptide repeat proteins predates that of TDP‐43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene [PDF]
Neuropathology and Applied Neurobiology, 2015 AIMS: Frontotemporal 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 ...
Atik Baborie +2 more
exaly +3 more sources
Pectolinarigenin Improves Oxidative Stress and Apoptosis in Mouse NSC-34 Motor Neuron Cell Lines Induced by C9-ALS-Associated Proline–Arginine Dipeptide Repeat Proteins by Enhancing Mitochondrial Fusion Mediated via the SIRT3/OPA1 Axis [PDF]
Antioxidants, 2023 Ru-Huei Fu, Fu Ru-Huei
exaly +2 more sources
Modeling C9orf72-Related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis in Drosophila
Frontiers in Cellular Neuroscience, 2021 An intronic hexanucleotide (GGGGCC) expansion in the C9orf72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
Joanne L. Sharpe +5 more
doaj +1 more source
Nature Communications, 2021 A hexanucleotide repeat expansion of C9orf72 is translated to dipeptide repeat proteins in amyotrophic lateral sclerosis and frontotemporal dementia patients. Here the authors generate a C.
Yoshifumi Sonobe +14 more
doaj +1 more source
Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD
Nature Communications, 2022 The GGGGCC repeat expansion in C9ORF72-ALS/FTD can be translated into five dipeptide repeat (DPR) proteins, including poly(GR) and poly(GA). Here, the authors develop assays to detect the levels of these DPR proteins in the CSF of individuals with ALS ...
Gopinath Krishnan +16 more
doaj +1 more source
eLife, 2021 G4C2 repeat expansions within the C9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Magda L Atilano +15 more
doaj +1 more source
Hypothesis and Theory: Roles of Arginine Methylation in C9orf72-Mediated ALS and FTD
Frontiers in Cellular Neuroscience, 2021 Hexanucleotide repeat expansion (G4C2n) mutations in the gene C9ORF72 account for approximately 30% of familial cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as well as approximately 7% of sporadic cases of ALS.
Anna L. Gill +2 more
doaj +1 more source
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP‐43 pathology and not associated with aggregated forms of dipeptide repeat proteins [PDF]
Neuropathology and Applied Neurobiology, 2016 Claire Troakes +2 more
exaly +2 more sources