| http://purl.uniprot.org/citations/22644586 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22644586 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22644586 | http://www.w3.org/2000/01/rdf-schema#comment | "Pompe disease is an autosomal recessive lysosomal glycogen storage disorder, characterized by progressive muscle weakness. Deficiency of acid α-glucosidase (EC; 3.2.1.20/3) can be caused by numerous pathogenic variants in the GAA gene. The Pompe Disease Mutation Database at http://www.pompecenter.nl aims to list all variants and their effect. This update reports on 94 variants. We examined 35 novel and 34 known mutations by site-directed mutagenesis and transient expression in COS-7 cells or HEK293T cells. Each of these mutations was given a severity rating using a previously published system, based on the level of acid α-glucosidase activity in medium and transfected cells and on the quantity and quality of the different molecular mass species in the posttranslational modification and transport of acid α-glucosidase. This approach enabled to classify 55 missense mutations as pathogenic and 13 as likely nonpathogenic. Based on their nature and the use of in silico analysis (Alamut® software), 12 of the additional 25 novel mutations were predicted to be pathogenic including 4 splicing mutations, 6 mutations leading to frameshift, and 2 point mutations causing stop codons. Seven of the additional mutations were considered nonpathogenic (4 silent and 3 occurring in intron regions), and 6 are still under investigation."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22108"xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22108"xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Jones S."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Jones S."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Herzog A."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Herzog A."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Shboul M."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Shboul M."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Najmabadi H."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Najmabadi H."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "D'Hooghe M."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "D'Hooghe M."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Mengel E."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Mengel E."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Plecko B."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Plecko B."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Lissens W."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Lissens W."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Michelakakis H."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Michelakakis H."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Peric S."xsd:string |
| http://purl.uniprot.org/citations/22644586 | http://purl.uniprot.org/core/author | "Peric S."xsd:string |