C9orf72
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.: C9ORF72 repeat expansion in parkinsonism
... with C9ORF72 repeat expansions, we cannot completely exclude that the observed repeat expansions and the presence of typical PD are unrelated ...in C9ORF72, although a patient with typical PD harbored a ...
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Gene co-expression analysis unravels a link between C9orf72 and RNA metabolism in myeloid cells
... 0.0002 PYCRL;CAD;PYCR2;CTPS1;PFAS;GLS A gene enrichment analysis was performed on the list of top 100 genes that are the most inversely correlated with C9orf72 mRNA levels. Left column: GO terms for which ...
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Dipeptide Repeat derived from C9orf72 Hexanucleotide Expansions Forms Amyloids or natively unfolded structures in vitro
... 24. Flores BN, Dulchavsky ME, Krans A, Sawaya MR, Paulson HL, Todd PK, et al. Distinct c9orf72-associated dipeptide repeat structures correlate with neuronal toxicity. PLoS One. 2016. ...
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Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
... on C9orf72 brain tissue are needed to better understand whether tissue miRNAs correlate with plasma expression profiles and their contribution to the disease ...
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Presymptomatic spinal cord pathology in c9orf72 mutation carriers: a longitudinal neuroimaging study
... The objective of this study was to characterise cervical spinal cord (SC) changes in asymptomatic c9orf72 hexanucleotide carriers. Methods: Seventy-two asymptomatic individuals were enrolled in a prospective study ...
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Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
... 7 Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, ...
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Étude de la toxicité causée par le gène C9orf72 dans la Sclérose Latérale Amyotrophique
... developed C9orf72 mouse models but failed to observe neurodegeneration 246,247 ...human C9orf72 that comprised a pathogenic GGGGCC repeat (ranging from 100- 1,000 units ...human C9orf72 harbouring a ...
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en fr Modeling C9ORF72 loss-of-function : a knockdown mouse model Caractérisation de la perte de fonction de C9ORF72 : un nouveau modèle knockdown
... 26 1.3. p62, a link between autophagy and the ubiquitin proteasome system Autophagy is a key aspect of cellular homeostasis, and as previously seen, its failure causes various effects associated with neurodegeneration ...
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Génération de lignées de poissons-zèbres par génie génétique dans le cadre de l'étude du gène C9orf72
... faible efficacité pour la technique d’insertion de séquences précises à un site spécifique utilisant le système CRISPR/Cas9. En effet, pour l’utilisation du système CRIPSR/Cas9, l’efficacité maximale des RDH guidées avec ...
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White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations
... Methods. Patients. We retrospectively collected clin- ical and MRI data from 28 patients with a diagnosis of bv-FTLD based on the Rascovsky criteria, 4 includ- ing 11 GRN mutation carriers and 17 C9ORF72 mutation ...
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