C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss of function mechanism due to haploinsufficiency of C9orf72 or a gain of function mediated by aggregates of bidirectionally tr...

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Bibliographic Details
Main Authors: Rizzu, Patrizia, Blauwendraat, Cornelis, Heetveld, Sasja, Lynes, Emily M., Castillo-Lizardo, Melissa, Dhingra, Ashutosh, Pyz, Elwira, Hobert, Markus, Synofzik, Matthis, Simón-Sánchez, Javier, Francescatto, Margherita, Heutink, Peter
Format: Online
Language:English
Published: BioMed Central 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832459/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832459/

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