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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Vydané v:	Acta neuropathologica communications Ročník 4; číslo 1; s. 37
Hlavní autori:	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
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	London BioMed Central 14.04.2016 BioMed Central Ltd
Predmet:	Amyotrophic Lateral Sclerosis - metabolism Animals Biomedical and Life Sciences Biomedicine C9orf72 Protein Central Nervous System - metabolism Databases, Factual - standards Databases, Factual - statistics & numerical data Degeneration Frontotemporal Dementia - metabolism Gene expression Gene Expression Regulation Gene mutations Genetic aspects Health aspects Humans Identification and classification Intercellular Signaling Peptides and Proteins - genetics Lipopolysaccharide Receptors - metabolism Mutation - genetics Myeloid Cells - metabolism Nervous system Neurology Neurosciences Open reading frames Pathology Properties Proteins - genetics Proteins - metabolism tau Proteins - genetics Frontotemporal dementia Neurodegeneration C9orf72 risk haplotype Hexanucleotide repeat expansion
ISSN:	2051-5960, 2051-5960
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