MtDNA-maintenance defects: syndromes and genes
C Viscomi, M Zeviani - Journal of inherited metabolic disease, 2017 - Springer
A large group of mitochondrial disorders, ranging from early-onset pediatric
encephalopathic syndromes to late-onset myopathy with chronic progressive external …
encephalopathic syndromes to late-onset myopathy with chronic progressive external …
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …
[PDF][PDF] Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number
Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-
recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations …
recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations …
Legionella pneumophila modulates host energy metabolism by ADP-ribosylation of ADP/ATP translocases
J Fu, M Zhou, MA Gritsenko, ES Nakayasu, L Song… - Elife, 2022 - elifesciences.org
The intracellular pathogen Legionella pneumophila delivers more than 330 effectors into
host cells by its Dot/Icm secretion system. Those effectors direct the biogenesis of the …
host cells by its Dot/Icm secretion system. Those effectors direct the biogenesis of the …
Mitochondrial dysfunction in Down syndrome: From pathology to therapy
Mitochondrial dysfunctions have been described in Down syndrome (DS) caused by either
partial or full trisomy of chromosome 21 (HSA21). Mitochondria play a crucial role in various …
partial or full trisomy of chromosome 21 (HSA21). Mitochondria play a crucial role in various …
[HTML][HTML] Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions
Mitochondria is a unique cellular organelle involved in multiple cellular processes and is
critical for maintaining cellular homeostasis. This semi-autonomous organelle contains its …
critical for maintaining cellular homeostasis. This semi-autonomous organelle contains its …
[PDF][PDF] The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism
Mitochondrial carriers (MCs) mediate the passage of small molecules across the inner
mitochondrial membrane (IMM), enabling regulated crosstalk between compartmentalized …
mitochondrial membrane (IMM), enabling regulated crosstalk between compartmentalized …
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability
AI Gilea, C Ceccatelli Berti, M Magistrati, G di Punzio… - Genes, 2021 - mdpi.com
Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS)
since some subunits of the respiratory chain complexes are mitochondrially encoded …
since some subunits of the respiratory chain complexes are mitochondrially encoded …
Mitochondrial diseases and cardiomyopathies
C Brunel-Guitton, A Levtova, F Sasarman - Canadian Journal of Cardiology, 2015 - Elsevier
Mitochondrial cardiomyopathies are clinically and genetically heterogeneous. An integrative
approach encompassing clinical, biochemical, and molecular investigations is required to …
approach encompassing clinical, biochemical, and molecular investigations is required to …
Mitochondrial DNA replication: clinical syndromes
M Almannai, AW El-Hattab, F Scaglia - Essays in Biochemistry, 2018 - portlandpress.com
Each nucleated cell contains several hundreds of mitochondria, which are unique
organelles in being under dual genome control. The mitochondria contain their own DNA …
organelles in being under dual genome control. The mitochondria contain their own DNA …