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
LONP-1 deficiency causes dysregulated protein synthesis within mitochondria that is restored by mitoribosomal mutations.
Ali L et al.
Biorxiv : the Preprint Server for Biology, 2026
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Association of LONP1 gene with epilepsy and the sub-regional effect.
Li SX et al.
Scientific Reports, 2024
Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight.
Ma H et al.
International Journal of Molecular Sciences, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Inhibition of mitochondrial LonP1 protease by allosteric blockade of ATP binding and hydrolysis via CDDO and its derivatives.
Lee J et al.
The Journal of Biological Chemistry, 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
A structure and function relationship study to identify the impact of the R721G mutation in the human mitochondrial lon protease.
Sha Z et al.
Archives of Biochemistry and Biophysics, 2021
Structures of the human LONP1 protease reveal regulatory steps involved in protease activation.
Shin M et al.
Nature Communications, 2021
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
Zhao T et al.
International Journal of Molecular Sciences, 2020
Cell stress management by the mitochondrial LonP1 protease - Insights into mitigating developmental, oncogenic and cardiac stress.
Venkatesh S et al.
Mitochondrion, 2020
LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity.
Besse A et al.
Mitochondrion, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 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
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss KA et al.
American Journal of Human Genetics, 2015