The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

Autor:	Rob Moccia, Atsushi Intoh, Kevin Eggan, Ian Armstrong, Brandi N. Davis-Dusenbery, Naoki Suzuki, Florian T. Merkle, Kathryn Koszka, Asif M. Maroof
Přispěvatelé:	Merkle, Florian [0000-0002-8513-2998], Apollo - University of Cambridge Repository
Rok vydání:	2013
Předmět:	Male hippocampus medicine.disease_cause Mice C9orf72 Guanine Nucleotide Exchange Factors Amyotrophic lateral sclerosis (ALS) Amyotrophic lateral sclerosis Cells Cultured Genetics Regulation of gene expression Neurons Mutation General Neuroscience cortical neuron Brain Nuclear Proteins Frontotemporal Dementia Acetylcholinesterase Frontotemporal dementia Genetically modified mouse Cell type Genotype C9ORF72 Mice Transgenic Nerve Tissue Proteins Biology Transfection Article astrocyte medicine Animals Humans motor neuron Gene Aged Homeodomain Proteins microglial C9orf72 Protein Amyotrophic Lateral Sclerosis frontotemporal dementia (FTD) Proteins medicine.disease Embryo Mammalian Repressor Proteins Animals Newborn Gene Expression Regulation Neuroscience Transcription Factors
Zdroj:	Nature neuroscience
ISSN:	1546-1726
Popis:	Using transgenic mice harboring a targeted LacZ insertion, we studied the expression pattern of the C9ORF72 mouse ortholog (3110043O21Rik). Unlike most genes that are mutated in amyotrophic lateral sclerosis (ALS), which are ubiquitously expressed, the C9ORF72 ortholog was most highly transcribed in the neuronal populations that are sensitive to degeneration in ALS and frontotemporal dementia. Thus, our results provide a potential explanation for the cell type specificity of neuronal degeneration caused by C9ORF72 mutations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45f8cc77fac89730908e61b2bc18a173 https://pubmed.ncbi.nlm.nih.gov/24185425 Zobrazit plný text záznamu Plný text ve formátu PDF