Associated Papers
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE et al.
Clinical Genetics, 2026
Detection Rate of Cataract-Related Gene Variants in Sporadic Childhood Cataract Patients in Southern China.
Luo Z et al.
American Journal of Ophthalmology, 2025
The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations.
Tang Y et al.
Frontiers in Genetics, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
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
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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