| http://purl.uniprot.org/citations/38172607 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/38172607 | http://www.w3.org/2000/01/rdf-schema#comment | "Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11-a mutation found in KTS patients disabling ROGDI function. This Rogdi-/- mutant model recapitulates most KTS symptoms. Mutants displayed pentylenetetrazol-induced seizures, confirming epilepsy susceptibility. Spontaneous locomotion and circadian activity tests demonstrate Rogdi mutant hyperactivity mirroring patient spasticity. Object recognition impairment indicates memory deficits. Rogdi-/- mutant enamel was markedly less mature. Scanning electron microscopy confirmed its hypomineralized/hypomature crystallization, as well as its low mineral content. Transcriptomic RNA sequencing of postnatal day 5 lower incisors showed downregulated enamel matrix proteins Enam, Amelx, and Ambn. Enamel crystallization appears highly pH-dependent, cycling between an acidic and neutral pH during enamel maturation. Rogdi-/- teeth exhibit no signs of cyclic dental acidification. Additionally, expression changes in Wdr72, Slc9a3r2, and Atp6v0c were identified as potential contributors to these tooth acidification abnormalities. These proteins interact through the acidifying V-ATPase complex. Here, we present the Rogdi-/- mutant as a novel model to partially decipher KTS pathophysiology. Rogdi-/- mutant defects in acidification might explain the unusual combination of enamel and rare neurological disease symptoms."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41598-023-50870-2"xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Laporte J."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Hernandez M."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Niederreither K."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Gogl G."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Birling M.C."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Herault Y."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Bloch-Zupan A."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Kharouf N."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Selloum M."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Riet F."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "de Feraudy Y."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Morkmued S."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Ahumada J.T."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/author | "Jimenez-Armijo A."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/date | "2024"xsd:gYear |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/name | "Sci Rep"xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/pages | "445"xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/title | "The Rogdi knockout mouse is a model for Kohlschutter-Tonz syndrome."xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/38172607 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/38172607 |
| http://purl.uniprot.org/citations/38172607 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/38172607 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YUG1-mappedCitation-38172607 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/38172607 |