Journal article

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

Christoph S Clemen, Karthikeyan Tangavelou, Karl-Heinz Strucksberg, Steffen Just, Linda Gaertner, Hanna Regus-Leidig, Maria Stumpf, Jens Reimann, Roland Coras, Reginald O Morgan, Maria-Pilar Fernandez, Andreas Hofmann, Stefan Mueller, Benedikt Schoser, Franz-Georg Hanisch, Wolfgang Rottbauer, Ingmar Bluemcke, Stephan von Hoersten, Ludwig Eichinger, Rolf Schroeder

Brain | OXFORD UNIV PRESS | Published : 2010


Mutations of the human valosin-containing protein gene cause autosomal-dominant inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. We identified strumpellin as a novel valosin-containing protein binding partner. Strumpellin mutations have been shown to cause hereditary spastic paraplegia. We demonstrate that strumpellin is a ubiquitously expressed protein present in cytosolic and endoplasmic reticulum cell fractions. Overexpression or ablation of wild-type strumpellin caused significantly reduced wound closure velocities in wound healing assays, whereas overexpression of the disease-causing strumpellin N471D mutant showed no functional effect. Strumpel..

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University of Melbourne Researchers


Awarded by German Research Foundation

Awarded by Fritz-Thyssen-Foundation

Awarded by Spanish Ministry of Science and Innovation (MICINN)

Funding Acknowledgements

The German Research Foundation (DFG: SCHR 562/7-1, CL 381/1-1; DFG/FOR1228: SCHR 562/9-1, CL 381/3-1, EI 399/5-1); Fritz-Thyssen-Foundation (grant to R. S. and C. S. C.); German ministry of education and research, (BMBF) (via the German network on muscular dystrophies (MD-NET2) to R. S. and C. S. C.); Spanish Ministry of Science and Innovation (MICINN) (grant BFU2007-67876 to R.O.M. and M.-P. F.).