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The G336S Variant in the Human Neurofilament-M Gene Does Not Affect Its Assembly or Distribution: Importance of the Functional Analysis of Neurofilament Variants
2004
Journal of Neuropathology and Experimental Neurology
The human neurofilament medium (hNFM) subunit is one of the 3 neurofilament (NF) polypeptides, which are the most abundant intermediate filament (IF) proteins in post-mitotic neurons. The formation of neurofilamentous aggregates is a pathological hallmark of many neurodegenerative diseases, including the Lewy bodies found in Parkinson disease (PD). A Gly336Ser (G336S) variant in the rod domain of hNFM has recently been described in a patient with early-onset autosomaldominant PD. In this study,
doi:10.1093/jnen/63.7.759
pmid:15290901
fatcat:tbh7ldvzl5gt7mqnrxzdphqcmq