Associated Papers
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE et al.
Clinical Genetics, 2026
Molecular mechanisms of mitochondrial AAA+ proteases.
Currie SQW et al.
The Journal of Biological Chemistry, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight.
Ma H et al.
International Journal of Molecular Sciences, 2022
The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations.
Tang Y et al.
Frontiers in Genetics, 2022
Structures of the human LONP1 protease reveal regulatory steps involved in protease activation.
Shin M et al.
Nature Communications, 2021
34050165 (PubMed )
Supplement: 41467_2021_23495_MOESM1_ESM.pdf
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
Zhao T et al.
International Journal of Molecular Sciences, 2020
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
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss KA et al.
American Journal of Human Genetics, 2015
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