Article
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
Nature genetics - 1 Jun 2011
Klein Christopher J, Botuyan Maria-Victoria, Wu Yanhong, Ward Christopher J, Nicholson Garth A, Hammans Simon, Hojo Kaori, Yamanishi Hiromitch, Karpf Adam R, Wallace Douglas C, Simon Mariella, Lander Cecilie, Boardman Lisa A, Cunningham Julie M, Smith Glenn E, Litchy William J, Boes Benjamin, Atkinson Elizabeth J, Middha Sumit, B Dyck P James, Parisi Joseph E, Mer Georges, Smith David I, Dyck Peter J
Abstract excerpt
DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene regulation and chromatin stability. DNA mismatch repair, cell cycle regulation in post-mitotic neurons and neurogenesis are influenced by DNA methylation. Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss....
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