. Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Arch Neurol. 2010 Feb;67(2):171-7. PubMed.


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  1. We have evidence for a role of fractalkine in the pathophysiology of frontotemporal dementia in progranulin (PGRN) mutation carriers. In addition, PGRN upregulates several cell adhesion molecules in cortical neurons at seven days in vitro, and promotes neurite length under excitotoxic conditions (Merino et al., submitted).

    Interestingly, a loss of function of TDP-43 that represses CDK6 expression may result from altered subcellular TDP-43 distribution in lymphoblasts (Alquezar et al., 2011).

    View all comments by Jose Joaquin Merino