Associated Papers
Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.
Fetterman JL et al.
Circulation, 2025
Cardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians.
Gray R et al.
European Heart Journal. Imaging Methods and Practice, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Orbach R et al.
Annals of Clinical and Translational Neurology, 2025
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data.
Braunisch MC et al.
Kidney International Reports, 2025
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.
Capaci V et al.
International Journal of Molecular Sciences, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M et al.
American Journal of Human Genetics, 2024
From Beach to the Bedside: Harnessing Mitochondrial Function in Human Diseases Using New Marine-Derived Strategies.
Mirra S et al.
International Journal of Molecular Sciences, 2024
Mitochondrial disease and epilepsy in children.
Zhang X et al.
Frontiers in Neurology, 2024
Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction.
Spielmann N et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2023
Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.
Purhonen J et al.
Nature Communications, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Iron status influences mitochondrial disease progression in Complex I-deficient mice.
Kelly CJ et al.
Elife, 2023
The mitochondrial coenzyme Q junction and complex III: biochemistry and pathophysiology.
Banerjee R et al.
The Febs Journal, 2022
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Rajala K et al.
Prenatal Diagnosis, 2022
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
Guo W et al.
Nephrology (carlton, Vic.), 2022
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
Al Qurashi M et al.
Bmc Medical Genomics, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2021
Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
Brischigliaro M et al.
Journal of Molecular Medicine (berlin, Germany), 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 2021
Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences.
Rugolo M et al.
Life (basel, Switzerland), 2021
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction.
Peruzzo R et al.
Nature Communications, 2021
Genetic background of ataxia in children younger than 5 years in Finland.
Ignatius E et al.
Neurology. Genetics, 2020
Mitochondrial functions and rare diseases.
Dard L et al.
Molecular Aspects of Medicine, 2020
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice.
Purhonen J et al.
Nature Communications, 2020
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.
Tomašić N et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Oláhová M et al.
Human Molecular Genetics, 2019
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA et al.
American Journal of Medical Genetics. Part A, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Human diseases associated with defects in assembly of OXPHOS complexes.
Ghezzi D et al.
Essays in Biochemistry, 2018
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S et al.
Molecular Genetics and Metabolism Reports, 2018
Is the BCS1L variant c.232A>G truly responsible for a GRACILE-like condition?
Finsterer J et al.
The Turkish Journal of Pediatrics, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017