Kelley BJ, Haidar W, Boeve BF, Baker M, Shiung M, Knopman DS, Rademakers R, Hutton M, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Petersen RC. 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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UCM
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).
References:
Merino JJ. Progranuline promotes repair in cortical neurons in vitro under excitotoxic conditions in vitro. Tissue Eng Part A; 2011 Jan (Submitted)
Alquezar C, Esteras N, Bartolomé F, Merino JJ, Alzualde A, de Munain AL, Martín-Requero Á. 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.
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