Associated Papers
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE et al.
Clinical Genetics, 2026
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 2024
38927725 (PubMed )
Supplement: genes-15-00789-s001.zip › genes-3017928-supplementary.pdf
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations.
Tang Y et al.
Frontiers in Genetics, 2022
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
Clinical features of LONP1-related infantile cataract.
Khan AO et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2018
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Peter B et al.
Human Molecular Genetics, 2018
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
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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