Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

A massive expansion of a GGGGCC repeat upstream of the C9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. Despite its intronic localization and lack of a canonical start codon, both strands are translated into aggregating dipeptide repe...

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Veröffentlicht in:	Acta neuropathologica 2015-10, Vol.130 (4), p.537-555
Hauptverfasser:	Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, Arzberger, Thomas, Edbauer, Dieter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - metabolism Adult Aged Amyotrophic lateral sclerosis Animals Brain - metabolism Brain - pathology Brain research C9orf72 Protein Cell Nucleolus - metabolism Cell Nucleolus - pathology Cohort Studies Comparative analysis Consortia Dementia DNA Repeat Expansion Frontotemporal Lobar Degeneration - complications Frontotemporal Lobar Degeneration - genetics Frontotemporal Lobar Degeneration - metabolism Frontotemporal Lobar Degeneration - pathology Gene Silencing Genetic aspects Humans Inclusion Bodies - metabolism Inclusion Bodies - pathology Medicine Medicine & Public Health Middle Aged Motor Neuron Disease - complications Motor Neuron Disease - genetics Motor Neuron Disease - metabolism Motor Neuron Disease - pathology Mutation Neurodegeneration Neuroglia - metabolism Neuroglia - pathology Neurons - metabolism Neurons - pathology Neurosciences Original Paper Pathology Proteins Proteins - genetics Proteins - metabolism Rats Spinal cord Spinal Cord - metabolism Spinal Cord - pathology Toxicity Transcription (Genetics)
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