| http://purl.uniprot.org/citations/24051375 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24051375 | http://www.w3.org/2000/01/rdf-schema#comment | "Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31. We generated the corresponding mouse model to study the underlying cellular pathology. Mice with heterozygous deletion of exon 2 in Reep1 displayed a gait disorder closely resembling SPG31 in humans. Homozygous exon 2 deletion resulted in the complete loss of REEP1 and a more severe phenotype with earlier onset. At the molecular level, we demonstrated that REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the ER. We further show that Reep1 expression was prominent in cortical motor neurons. In REEP1-deficient mice, these neurons showed reduced complexity of the peripheral ER upon ultrastructural analysis. Our study connects proper neuronal ER architecture to long-term axon survival."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci65665"xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Schweizer M."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Westermann M."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Nietzsche S."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Zimmer G."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Kurth I."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Huebner A.K."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Alvarez V."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Beetz C."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Hubner C.A."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Redies C."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Kessels M.M."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Koch N."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Qualmann B."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Mumtaz R."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Deufel T."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Irintchev A."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Hertel N."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Karle K.N."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Dirren E."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/author | "Khundadze M."xsd:string |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/24051375 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |