A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia

Mutations in the charged multivesicular body protein 2B (CHMP2B) are associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and with a mixed ALS-FTD syndrome. To model this syndrome, we generated a transgenic mouse line expressing the human CHMP2B mutant in a neuron-spec...

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Veröffentlicht in:	Human molecular genetics 2016-08, Vol.25 (15), p.3341-3360
Hauptverfasser:	Vernay, Aurélia, Therreau, Ludivine, Blot, Béatrice, Risson, Valérie, Dirrig-Grosch, Sylvie, Waegaert, Robin, Lequeu, Thiebault, Sellal, François, Schaeffer, Laurent, Sadoul, Rémy, Loeffler, Jean-Philippe, René, Frédérique
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Amyotrophic Lateral Sclerosis - pathology Amyotrophic Lateral Sclerosis - physiopathology Animals Axons - metabolism Axons - pathology Behavior, Animal Endosomal Sorting Complexes Required for Transport - biosynthesis Endosomal Sorting Complexes Required for Transport - genetics Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Frontotemporal Dementia - pathology Frontotemporal Dementia - physiopathology Gene Expression Regulation Humans Introns Mice Mice, Transgenic Mutation Nerve Tissue Proteins - biosynthesis Nerve Tissue Proteins - genetics Neurons - metabolism Neurons - pathology Sciatic Nerve - metabolism Sciatic Nerve - pathology Sciatic Nerve - physiopathology
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