Oleg V Evgrafov1, Irena Mersiyanova2, Joy Irobi3, Ludo Van Den Bosch4, Ines Dierick3, Conrad L Leung5, Olga Schagina2, Nathalie Verpoorten3, Katrien Van Impe6, Valeriy Fedotov7, Elena Dadali2, Michaela Auer-Grumbach8, Christian Windpassinger8, Klaus Wagner8, Zoran Mitrovic9, David Hilton-Jones10, Kevin Talbot11, Jean-Jacques Martin12, Natalia Vasserman2, Svetlana Tverskaya2, Alexander Polyakov2, Ronald K H Liem5, Jan Gettemans6, Wim Robberecht4, Peter De Jonghe3, 13
& Vincent Timmerman31
Department of Psychiatry, New York State Psychiatric Institute/Research Foundation for Mental Hygiene, Unit 28, 1051 Riverside Drive, New York, New York 10032, USA.
2
DNA-Diagnostics Laboratory, Research Center For Medical Genetics, Moscow, Russia.
3
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.
4
Laboratory for Neurobiology, Department of Experimental Neurology, University of Leuven, Leuven, Belgium.
5
Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, USA.
6
Department of Medical Protein Research, Flanders Interuniversity Institute for Biotechnology, Ghent University, Ghent, Belgium.
7
Genetic Counseling Department, Diagnostic Center, Voronezh, Russia.
8
Institute of Medical Biology and Human Genetics, Medical University Graz, Austria.
9
Centre for Neuromuscular Diseases, Department of Neurology, Clinical Hospital Centre Zagreb, University School of Medicine, Zagreb, Croatia.
10
Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK.
11
Department of Human Anatomy and Genetics, University of Oxford, UK.
12
Born-Bunge Foundation, University of Antwerp, Antwerpen, Belgium.
13
Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium.
Correspondence should be addressed to Oleg V Evgrafov Evgrafo@pi.cpmc.columbia.edu
-crystallin domain, and one mutation is in the C-terminal part of the HSP27 protein. Neuronal cells transfected with mutated HSPB1 were less viable than cells expressing the wild-type protein. Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments.
