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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

A hexanucleotide (GGGGCC) expansion in C9ORF72 gene is the most common genetic change seen in familial Frontotemporal Lobar Degeneration (FTLD) and familial Motor Neurone Disease (MND). Pathologically, expansion bearers show characteristic p62 positive, TDP-43 negative inclusion bodies within cerebe...

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Detalles Bibliográficos
Autores principales: Davidson, Yvonne S, Barker, Holly, Robinson, Andrew C, Thompson, Jennifer C, Harris, Jenny, Troakes, Claire, Smith, Bradley, Al-Saraj, Safa, Shaw, Chris, Rollinson, Sara, Masuda-Suzukake, Masami, Hasegawa, Masato, Pickering-Brown, Stuart, Snowden, Julie S, Mann, David M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229740/
https://www.ncbi.nlm.nih.gov/pubmed/24950788
http://dx.doi.org/10.1186/2051-5960-2-70