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Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygosity

BACKGROUND: Deletions and mutations in the SHANK3 gene are strongly associated with autism spectrum disorder and underlie the autism-associated disorder Phelan–McDermid syndrome. SHANK3 is a scaffolding protein found at the post-synaptic membrane of excitatory neurons. METHODS: Single-molecule fluor...

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Detalles Bibliográficos
Autores principales: Taylor, Samuel E., Taylor, Ruth D., Price, Jack, Andreae, Laura C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6069870/
https://www.ncbi.nlm.nih.gov/pubmed/30064494
http://dx.doi.org/10.1186/s13287-018-0957-3