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

doi:10.1186/s40478-016-0306-7

Article

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

Acta neuropathologica communications - 14 Apr 2016

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

Abstract excerpt

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 transcribed HRE-RNAs translated into di-peptide repeat (DPR) proteins. To fully understand regulation of C9orf72...

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

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