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"AT THE MACROSCOPIC SCALE, living systems are thermodynamically open and far-from-equilibrium systems...if and how nonequilibrum – both a characteristic of the living systems, and one of the sciences of complexity –, can adequately be seen also in quantum phase transitions." https://lnkd.in/e3j9PFZ View in LinkedIn

MITOCHONDRIAL DISEASES. "Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6...are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot–Marie–Tooth (CMT), and ataxia telangiectasia." https://lnkd.in/eEEix9C View in LinkedIn

"DISORDERS of ATP synthase, the key enzyme of mitochondrial energy provision belong to the most severe metabolic diseases presenting as early-onset mitochondrial encephalo-cardiomyopathies." https://lnkd.in/eZHP7Rc View in LinkedIn

SEVERE CHILDHOOD DISEASES. "Many of these disorders affect mitochondrial ATP synthase...Defects in the structure or assembly of this crucial enzyme result in severe diseases that manifest primarily in children, often shortly after birth." https://lnkd.in/enMre4A View in LinkedIn

WIDE PRESENTATION. "Mitochondrial dysfunction has been implicated in a host of diseases with a wide range of symptoms and molecular phenotypes, which present significant challenges to diagnosis, let alone treatment." https://lnkd.in/enMre4A View in LinkedIn

HYBRID GENETICS. "Numerous nuclear and mtDNA mutations have been identified in affected patients to cause combined defects as well as isolated disorders of individual oxidative phosphorylation enzymes, including mitochondrial ATP synthase." https://lnkd.in/e9Dm5NA View in LinkedIn

HYBRID GENETICS. "Most of the protein subunits of the mitochondrial respiratory chain are encoded by nuclear genes, while only 13, but essential, subunits are encoded by mitochondrial DNA (mtDNA). Mitochondrial energy provision thus uniquely depends on two genomes." https://lnkd.in/e9Dm5NA View in LinkedIn

ENGINE OF LIFE AND DEATH MACHINE. "Mitochondrial ATP Synthase: Is the Molecular Engine of Life also an Efficient Death Machine?" https://lnkd.in/eNs9_jp View in LinkedIn

TWO TYPES OF ATP SYNTHASE DEFECTS. "Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and diminished use of mitochondrial ΔμH+ promotes ROS production by the mitochondrial respiratory chain." https://lnkd.in/e9Dm5NA View in LinkedIn

"CELLULAR OXIDATIVE STRESS results from the increased generation of reactive oxygen species and/or the dysfunction of the antioxidant systems. ROS are signaling molecules that can regulate cell death or cell survival. Inhibition of the H+-ATP synthase regulates mitochondrial ROS production." https://lnkd.in/ejS5qyU View in LinkedIn