C9orf72 Nucleotide Repeat Structures Initiate Molecular Cascades of Disease

A hexanucleotide repeat expansion (HRE), (GGGGCC)(n), in C9orf72 is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we identify a molecular mechanism by which structural polymorphism of the HRE leads to ALS/F...

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Hlavní autoři: Haeusler, Aaron R., Donnelly, Christopher J., Periz, Goran, Simko, Eric A.J., Shaw, Patrick G., Kim, Min-Sik, Maragakis, Nicholas J., Troncoso, Juan C., Pandey, Akhilesh, Sattler, Rita, Rothstein, Jeffrey D., Wang, Jiou
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4046618/
https://ncbi.nlm.nih.gov/pubmed/24598541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature13124
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