Ontology highlight
ABSTRACT:
SUBMITTER: Martin E
PROVIDER: S-EPMC3567271 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Martin Elodie E Schüle Rebecca R Smets Katrien K Rastetter Agnès A Boukhris Amir A Loureiro José L JL Gonzalez Michael A MA Mundwiller Emeline E Deconinck Tine T Wessner Marc M Jornea Ludmila L Oteyza Andrés Caballero AC Durr Alexandra A Martin Jean-Jacques JJ Schöls Ludger L Mhiri Chokri C Lamari Foudil F Züchner Stephan S De Jonghe Peter P Kabashi Edor E Brice Alexis A Stevanin Giovanni G
American journal of human genetics 20130117 2
Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a microsomal nonlysosomal glucosylceramidase that catalyzes the conversion of glucosy ...[more]