Associated Papers
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE et al.
Clinical Genetics, 2026
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
Cell stress management by the mitochondrial LonP1 protease - Insights into mitigating developmental, oncogenic and cardiac stress.
Venkatesh S et al.
Mitochondrion, 2020
Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report.
Yoo SD et al.
Medicine, 2019
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo GAM et al.
Human Molecular Genetics, 2019
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Peter B et al.
Human Molecular Genetics, 2018
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Inui T et al.
Journal of Human Genetics, 2017
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E et al.
American Journal of Medical Genetics. Part A, 2015
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