Letteratura scientifica selezionata sul tema "Gène C9ORF72"
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Articoli di riviste sul tema "Gène C9ORF72":
Le Ber, I., A. Camuzat, D. Hannequin, L. Lacomblez, P. Couratier, L. Guillot-Noel, M. O. Habert et al. "Fréquence et phénotypes associés aux mutations du gène c9orf72 dans une cohorte française de patients atteints de DLFT". Revue Neurologique 168 (aprile 2012): A196. http://dx.doi.org/10.1016/j.neurol.2012.01.510.
Saracino, Dario, Fábio Carneiro, Vincent Huin, Fabienne Clot, Vincent Deramecourt, Alexis Brice e Isabelle Le Ber. "Un parkinsonisme isolé est une présentation atypique des mutations des gènes GRN et C9orf72". Revue Neurologique 177 (aprile 2021): S19—S20. http://dx.doi.org/10.1016/j.neurol.2021.02.121.
Grazia Biferi, Maria. "Développement de thérapies géniques AAV pour les formes familiales de SLA : l’exemple des gènes SOD1 et C9ORF72". Revue Neurologique 177 (aprile 2021): S139. http://dx.doi.org/10.1016/j.neurol.2021.02.024.
Tesi sul tema "Gène C9ORF72":
Corbier, Camille. "Caractérisation d'un modèle murin knock out pour le gène C9orf72". Thesis, Strasbourg, 2019. http://www.theses.fr/2019STRAJ080.
An expansion of G4C2 repeats in C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS). These repeats lead to DNA epigenetic changes resulting in a decrease expression of C9ORF72. To better understand the functions of this protein, we generated a C9orf72 KO mouse model. These mice do not develop an ALSphenotype, but present immune dysfunctions characterized by a splenomegaly and a lymphadenopathy. Sera and immunohistochemistry analysis also revealed elevated autoantibodies and a glomerulonephropathy, leading to mice death. To further investigate this phenotype, we generated different mice models with a tissue specific KO of C9orf72 in the main immune cell populations. Interestingly, the loss of C9orf72 in dendritic cells reproduce the splenomegaly and lymphadenopathy. Immunophenotyping of the dendritic cell lineage of KO mice revealed specific alteration of the plasmacytoid dendritic cells(pDCs). Overall, these results suggest that pDC could be the starting point of the inflammatory dysfunctions observed in C9orf72 KO mice
Pietri, David. "Structure and function of the C9ORF72-SMCR8-WDR41 complex and its implication for Amyotrophic Lateral Sclerosis (ALS)". Electronic Thesis or Diss., Strasbourg, 2023. http://www.theses.fr/2023STRAJ087.
Amyotrophic lateral sclerosis (ALS or Charcot disease) is the third most common neurodegenerative disease. The main genetic cause of ALS is an expansion of GGGGCC repeats in the C9ORF72 gene which protein forms a complex with the SMCR8 and WDR41 proteins. To better understand its molecular functions, solving its structure was a main goal of my thesis. In parallel, we discovered that C9ORF72 regulates a newly described mechanism of biogenesis of newly-formed lysosomes, called autophagic lysosome reformation (ALR). This process has been extensively investigated during my thesis, in order to better understand its regulation, particularly for the regeneration of lysosomes in basal conditions and amino acid deprivation. My work reveals a new partner of the C9ORF72 complex as a novel function in lysosome biogenesis. These results could thus explain the dysfunction of lysosomes and neurodegeneration observed in ALS, which open new therapeutic ways for this devastating disease
Calbiac, Hortense de. "Mechanisms of C9ORF72 pathogenicity and related autophagy impairment in amyotrophic lateral sclerosis Sqstm1 knockdown causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish". Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS561.
To investigate the pathogenic mechanisms induced by SQSTM1 mutations in ALS, we developed a zebrafish model of sqstm1 haploinsufficiency. We observed that loss of function of sqstm1 leads to a specific motor phenotype. To elucidate the common cellular mechanisms underlying motor neuron degeneration in ALS, we analyzedc9orf72 and sqstm1 epistatic interactions inzebrafish. C9orf72 and sqstm1 partial inhibitions have an additive effect and C9ORF72 rescues the phenotype induced by sqstm1 knockdown. Thus, both proteins belong to the same pathway and c9orf72 acts downstream of sqstm1. Also, we observed that depletion of these genes in mouse motor neurons primary cultures leads to the early death of motor neurons associated with autophagy impairment. To develop a vertebrate model that recapitulates the different mechanisms associated withthe C9ORF72 HRE pathogenicity in ALS, we combined the partial inhibition of c9orf72 with the expression of the DPRs in zebrafish. This induces a robust motor phenotype characterized by locomotor defects and paralysis. Focusing on GP repeats, we observed that the loss of function of c9orf72 is essential to inhibitpoly(GP) clearance.This is associated with SQSTM1/p62 accumulation, severe motor neurons abnormalities and loss. These phenotypes are rescued by the inhibition of caspase 9, a regulator of apoptosis. Also, rapamycinis able to improve the clearance of poly(GP) and p62, with restored swim and motor neurons features, thus confirming the role of C9ORF72 in autophagy.These results show that DPR toxicity is related to lowered expression of C9ORF72, suggesting that both gain and loss of function synergize in the C9ORF72 HRE pathogenicity
Therrien, Martine. "Étude de la toxicité causée par le gène C9orf72 dans la Sclérose Latérale Amyotrophique". Thèse, 2016. http://hdl.handle.net/1866/16008.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting the motor neurons. 10% of the cases are familial and using those families, many genes were shown to be involved in ALS pathogenesis, including SOD1, TARDBP and FUS. The GGGGCC repeat found in the first intron of C9orf72 is, to this day, the most common genetic cause of ALS. Many hypotheses have been speculated to explain the toxicity of the pathogenic GGGGCC repeat, including loss and gain of function mechanisms. Many proteins involved in amyotrophic lateral sclerosis (ALS) are evolutionarily conserved in the worm Caenorhabditis elegans. C. elegans is a transparent nematode widely used for anatomical, behavioural and genetic studies. It possesses an invariant cell lineage that includes 302 neurons in the adult nematode. Also, cellular stress responses and survival mechanisms are genetically regulated and conserved from the nematode and human. Therefore, our group, and others, have used C. elegans to model different aspects of neurodegenerative diseases including ALS. To better understand the toxicity caused by the GGGGCC repeat expansion in C9orf72, we have developed two C. elegans models to understand either the impact of the loss of function of C9orf72 or the gain of toxicity of the RNA containing the GGGGCC repeat. To understand the loss of function, we have characterized the orthologue of C9orf72 in C. elegans, alfa-1 (ALS/FTD associated gene homolog). Mutant alfa-1 worms exhibit motor impairments leading to paralysis and neurodegenereation of the GABAergic neurons. Mutant worms are also sensitive to osmotic stress which can lead to increased neurodegeneration. On the other part, exposure of C. elegans neurons to the RNA containing the GGGGCC repeat causes also motor problem and degeneration affecting the motor neurons. Therefore, our data suggest that both loss of function of C9orf72 and toxic gain of function are detrimental to neurons. Since motor dysfunctions in worms can be easily accessed in liquid culture, we have screened more than 4,000 FDA approved compounds in the alfa-1(ok3062) worms. 80 molecules were shown to improve alfa-1 impaired function and eleven of those were also tested for their effect to reduce the neurotoxicity caused by the GGGGCC repeat RNA. Eight molecules were shown to affect both types of neurotoxicity. Finally, from these eight molecules that can improveboth types of toxicity, two were shown to restore the abnormal RNA expression observed in C9orf72 patient-derive cells. With this project, we aimed to identify molecules that can affect the loss of C9orf72 toxicity and the toxic gain of RNA function containing the GGGGCC repeat to hopefully open new therapeutic avenues for ALS patients.
Emond, Alexandre. "Génération de lignées de poissons-zèbres par génie génétique dans le cadre de l'étude du gène C9orf72". Thèse, 2019. http://hdl.handle.net/1866/22821.