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
Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight.
Ma H et al.
International Journal of Molecular Sciences, 2022
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Biological_Context_Filter
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
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
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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