| http://purl.uniprot.org/citations/23386035 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23386035 | http://www.w3.org/2000/01/rdf-schema#comment | "Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury (AKI). Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). This article describes three Czech families with RHUC type 1. The serum UA in the probands was 0.9, 1.1 and 0.5 mg/dl and expressed as an increase in the fractional excretion of UA (48, 43 and 39%). The sequencing analysis of SLC22A12 revealed three novel variants: p.G366R, p.T467M and a deletion p.L415_G417del. A detailed metabolic investigation in proband C for progressive visual failure supported suspicion of neuronal ceroid lipofuscinosis type 7 conditioned by the mutation in the MFSD8 gene. Functional studies showed significantly decreased urate uptake and a mis-localized URAT1 signal in p.G366R, p.L415_G417del and p.T467M. Furthermore, colocalization studies showed accumulation of URAT1 protein in the endoplasmic reticulum. The findings suggest that loss-of-function mutations cause RHUC via loss of UA absorption partly by protein misfolding. However, they do not necessarily lead to AKI and a possible genotype-phenotype correlation was not proposed. Furthermore, results confirm an uneven geographical and ethnic distribution of SLC22A12 variants; the p.L415_G417del mutation predominates in the Roma ethnic group in the Czech Republic."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.3"xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Nakamura M."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Hulkova H."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Ichida K."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Krylov V."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Stiburkova B."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Jahnova H."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Sebesta I."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/author | "Kryspinova L."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/pages | "1067-1073"xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/title | "Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis."xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/23386035 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23386035 |
| http://purl.uniprot.org/citations/23386035 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23386035 |
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| http://purl.uniprot.org/uniprot/#_B3KP53-mappedCitation-23386035 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23386035 |
| http://purl.uniprot.org/uniprot/#_Q05CF4-mappedCitation-23386035 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23386035 |
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| http://purl.uniprot.org/uniprot/#_Q96S37-mappedCitation-23386035 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23386035 |
| http://purl.uniprot.org/uniprot/Q96S37 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23386035 |
| http://purl.uniprot.org/uniprot/B3KV05 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23386035 |