Disease: Cerebro oculo dento auriculo skeletal syndrome
- A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
- A structure and function relationship study to identify the impact of the R721G mutation in the human mitochondrial lon protease
- Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
- Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: First case reported in Saudi Arabia
- Clinical features of LONP1-related infantile cataract
- CODAS syndrome
- CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease
- CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report
- Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
- Emerging role of Lon protease as a master regulator of mitochondrial functions
- Expanding the Clinical Spectrum of <em>LONP1</em>-Related Mitochondrial Cytopathy
- Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report
- Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis
- Global Proteome of <em>LonP1</em><sup>+/-</sup> Mouse Embryonal Fibroblasts Reveals Impact on Respiratory Chain, but No Interdependence between Eral1 and Mitoribosomes
- Impaired Mitochondrial Morphology and Functionality in <em>Lonp1</em><sup>wt/-</sup> Mice
- Inhibition of mitochondrial LonP1 protease by allosteric blockade of ATP binding and hydrolysis via CDDO and its derivatives
- Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
- Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report
- Opitz award-winning paper details genetic cause of CODAS syndrome: Research points to new categories of rare disorder
- Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
- Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease
- The first case report of CODAS syndrome in Chinese population caused by two <em>LONP1</em> pathogenic mutations
- Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature