The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

doi:10.1016/j.bbrc.2018.08.038

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The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

Biochemical and biophysical research communications - 18 Sept 2018

Clemen Christoph S, Winter Lilli, Strucksberg Karl-Heinz, Berwanger Carolin, Türk Matthias, Kornblum Cornelia, Florin Alexandra, Aguilar-Pimentel Juan Antonio, Amarie Oana Veronica, Becker Lore, Garrett Lillian, Hans Wolfgang, Moreth Kristin, Neff Frauke, Pingen Laura, Rathkolb Birgit, Rácz Ildikó, Rozman Jan, Treise Irina, Fuchs Helmut, Gailus-Durner Valerie, de Angelis Martin Hrabe, Vorgerd Matthias, Eichinger Ludwig, Schröder Rolf

Abstract excerpt

Heterozygous missense mutations in the human VCP gene cause inclusion body myopathy associated with Paget disease of bone and fronto-temporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS). The exact molecular mechanisms by which VCP mutations cause disease manifestation in different tissues are incompletely understood. In the present study, we report the comprehensive analysis of a newly generated...

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PMID: 30100055
DOI: 10.1016/j.bbrc.2018.08.038

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