Ontology highlight
ABSTRACT:
SUBMITTER: Caballero Oteyza A
PROVIDER: S-EPMC4105256 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Caballero Oteyza Andrés A Battaloğlu Esra E Ocek Levent L Lindig Tobias T Reichbauer Jennifer J Rebelo Adriana P AP Gonzalez Michael A MA Zorlu Yasar Y Ozes Burcak B Timmann Dagmar D Bender Benjamin B Woehlke Günther G Züchner Stephan S Schöls Ludger L Schüle Rebecca R
Neurology 20140507 22
<h4>Objective</h4>To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP).<h4>Methods</h4>We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and mutant protein were studied to support the pathogenicity of the identified mutations.<h4>Results</h4>In 2 families, we identified com ...[more]