Associated Papers
Clinical and variant spectrum of patients harboring ATAD3A variants.
Mei H et al.
Translational Pediatrics, 2025
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.
Abdul-Raheem J et al.
American Journal of Medical Genetics. Part A, 2024
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M et al.
Brain : a Journal of Neurology, 2024
Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models.
Brügel M et al.
Frontiers in Neuroscience, 2024
ATAD3A gene variations in a family with Harel-Yoon syndrome.
Zheng Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
ATAD3A: A Key Regulator of Mitochondria-Associated Diseases.
Chen L et al.
International Journal of Molecular Sciences, 2023
Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.
Chen Y et al.
Pediatric Neurology, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Skopkova M et al.
Orphanet Journal of Rare Diseases, 2023
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A et al.
The Journal of Experimental Medicine, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap ZY et al.
Genome Medicine, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE et al.
Med (new York, N.y.), 2021
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Peralta S et al.
Molecular Genetics and Metabolism, 2019
ATAD3A on the Path to Cancer.
Teng Y et al.
Advances in Experimental Medicine and Biology, 2019
Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus.
Al Madhoun A et al.
The Application of Clinical Genetics, 2019
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Cooper HM et al.
Human Molecular Genetics, 2017
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Dorison N et al.
Molecular Genetics and Metabolism, 0