| http://purl.uniprot.org/citations/25152455 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25152455 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25152455 | http://www.w3.org/2000/01/rdf-schema#comment | "Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy characterized by clinical and genetic heterogeneity. Although more than 30 loci harboring CMT-causing mutations have been identified, many other genes still remain to be discovered for many affected individuals. For two consanguineous families with CMT (axonal and mixed phenotypes), a parametric linkage analysis using genome-wide SNP chip identified a 4.3 Mb region on 12q24 showing a maximum multipoint LOD score of 4.23. Subsequent whole-genome sequencing study in one of the probands, followed by mutation screening in the two families, revealed a disease-specific 5 bp deletion (c.247-10_247-6delCACTC) in a splicing element (pyrimidine tract) of intron 2 adjacent to the third exon of cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), which is a component of mitochondrial respiratory complex IV (cytochrome c oxidase [COX]), within the autozygous linkage region. Functional analysis showed that expression of COX6A1 in peripheral white blood cells from the affected individuals and COX activity in their EB-virus-transformed lymphoblastoid cell lines were significantly reduced. In addition, Cox6a1-null mice showed significantly reduced COX activity and neurogenic muscular atrophy leading to a difficulty in walking. Those data indicated that COX6A1 mutation causes the autosomal-recessive axonal or mixed CMT."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2014.07.013"xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2014.07.013"xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Hayashi M."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Hayashi M."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Makino S."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Makino S."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Ogawa N."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Ogawa N."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Tanaka A."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Tanaka A."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Abe A."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Abe A."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Onodera O."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Onodera O."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Tamiya G."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Tamiya G."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Ito C."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Ito C."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Hayasaka K."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Hayasaka K."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Terashima T."xsd:string |
| http://purl.uniprot.org/citations/25152455 | http://purl.uniprot.org/core/author | "Terashima T."xsd:string |