Article
PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers.
Neurobiology of aging - 1 Apr 2014
Alquézar Carolina, Esteras Noemí, de la Encarnación Ana, Alzualde Ainhoa, Moreno Fermín, López de Munain Adolfo, Martín-Requero Angeles
Abstract excerpt
Loss-of-function progranulin (PGRN) mutations have been identified as the major cause of frontotemporal lobar degeneration with TDP-43 protein inclusions (FTLD-TDP). Previously, we reported cell cycle-related alterations in lymphoblasts from FTLD-TDP patients, carrying the c.709-1G>A null PGRN mutation, suggesting aberrant cell cycle activation in affected neurons. Here we report that PGRN haploinsufficiency...
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