. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet. 2010 Mar;42(3):234-9. 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).


    . Progranuline promotes repair in cortical neurons in vitro under excitotoxic conditions in vitro. Tissue Eng Part A; 2011 Jan (Submitted)

    . Alteration in cell cycle-related proteins in lymphoblasts from carriers of the c.709-1G>A PGRN mutation associated with FTLD-TDP dementia. Neurobiol Aging. 2012 Feb;33(2):429.e7-20. PubMed.

    View all comments by Jose Joaquin Merino

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