Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Author

CRUTS, Marc^{1 2 3} ; GIJSELINCK, Ilse^{1 2 3} ; VAN DUIJN, Cornelia⁹ ; PEETERS, Karin^{1 2 3} ; SCIOT, Raf¹⁰ ; SANTENS, Patrick⁷ ; DE POOTER, Tim^{1 2 3} ; MATTHEIJSSENS, Maria^{1 2 3} ; VAN DEN BROECK, Marleen^{1 2 3} ; CUIJT, Ivy^{1 2 3} ; VENNEKENS, Kristl^{1 2 3} ; DE DEYN, Peter P^{3 4 5} ; VAN DER ZEE, Julie^{1 2 3} ; KUMAR-SINGH, Samir^{1 2 3} ; VAN BROECKHOVEN, Christine^{1 2 3} ; ENGELBORGHS, Sebastiaan^{3 4 5} ; WILS, Hans^{1 2 3} ; PIRICI, Daniel^{1 2 3} ; RADEMAKERS, Rosa^{1 2 3} ; VANDENBERGHE, Rik⁶ ; DERMAUT, Bart⁷ ; MARTIN, Jean-Jacques^{3 8}
[1] Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Belgium
[2] Laboratory of Neurogenetics, Institute Born-Bunge, Belgium
[3] University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, Belgium
[4] Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, Belgium
[5] Memory Clinic, Department of Neurology, Middelheim General Hospital, 2610 Antwerpen, Belgium
[6] Department of Neurology, University Hospital Gasthuisberg, Katholieke Universiteit Leuven (KULeuven), 3000 Leuven, Belgium
[7] Department of Neurology, Ghent University Hospital, Ghent University, 9000 Gent, Belgium
[8] Laboratory of Neuropathology, Institute Born-Bunge, Belgium
[9] Genetic Epidemiology Group, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, 3000 DR Rotterdam, Netherlands
[10] Department of Pathology, University Hospital Gasthuisberg, Katholieke Universiteit Leuven (KULeuven), 3000 Leuven, Belgium

Source

Nature (London). 2006, Vol 442, Num 7105, pp 920-924, 5 p ; ref : 28 ref

CODEN

NATUAS

ISSN

0028-0836

Scientific domain

Multidisciplinary

Publisher

Nature Publishing, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Chromosome E17 Démence frontotemporale Déterminisme génétique Encéphale pathologie Homme Mutation Pathogénie Ubiquitine Progranuline Système nerveux central pathologie Système nerveux pathologie

Keyword (en)

Chromosome E17 Frontotemporal dementia Genetic determinism Cerebral disorder Human Mutation Pathogenesis Ubiquitin Central nervous system disease Nervous system diseases

Keyword (es)

Cromosoma E17 Demencia frontotemporal Determinismo genético Encéfalo patología Hombre Mutación Patogenia Ubiquitina Sistema nervosio central patología Sistema nervioso patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

18035131

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS