| http://purl.uniprot.org/citations/25728773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25728773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25728773 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3'-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2015.01.005"xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2015.01.005"xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Coutinho P."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Coutinho P."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Barbot C."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Barbot C."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Sequeiros J."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Sequeiros J."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Costa M.M."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Costa M.M."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Alonso I."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Alonso I."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Darwent L."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Darwent L."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Orme T."xsd:string |
| http://purl.uniprot.org/citations/25728773 | http://purl.uniprot.org/core/author | "Orme T."xsd:string |