Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Mutations in the gene encoding profilin 1 (PFN1) have recently been shown to cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. We sequenced the PFN1 gene in a cohort of ALS patients (n = 485) and detected 2 novel variants (A20T and Q139L), as well as 4 cases with the pre...

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Vydáno v:Neurobiol Aging
Hlavní autoři: Smith, Bradley N., Vance, Caroline, Scotter, Emma L., Troakes, Claire, Wong, Chun Hao, Topp, Simon, Maekawa, Satomi, King, Andrew, Mitchell, Jacqueline C., Lund, Karan, Al-Chalabi, Ammar, Ticozzi, Nicola, Silani, Vincenzo, Sapp, Peter, Brown, Robert H., Landers, John E., Al-Sarraj, Safa, Shaw, Christopher E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
Témata:
Genetic Report Abstract
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357530/
https://ncbi.nlm.nih.gov/pubmed/25499087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2014.10.032
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