Associated Papers
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE et al.
Clinical Genetics, 2026
Association of LONP1 gene with epilepsy and the sub-regional effect.
Li SX et al.
Scientific Reports, 2024
39462050 (PubMed )
Supplement: 41598_2024_77039_MOESM1_ESM.pdf
Cell stress management by the mitochondrial LonP1 protease - Insights into mitigating developmental, oncogenic and cardiac stress.
Venkatesh S et al.
Mitochondrion, 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
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Peter B et al.
Human Molecular Genetics, 2018
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