[HTML][HTML] Mitochondrial diseases: hope for the future
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …
of mutations in genes encoded by either the nuclear or the mitochondrial genome …
Mitochondrial disorders of the OXPHOS system
Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …
The biochemistry and physiology of mitochondrial fatty acid β-oxidation and its genetic disorders
Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty
acids and is essential for maintaining energy homeostasis in the human body. Fatty acids …
acids and is essential for maintaining energy homeostasis in the human body. Fatty acids …
[HTML][HTML] Riboflavin deficiency—implications for general human health and inborn errors of metabolism
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being
highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and …
highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and …
[HTML][HTML] Understanding mitochondrial complex I assembly in health and disease
Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …
the mitochondrial respiratory chain, which is responsible for electron transport and the …
Complex I deficiency: clinical features, biochemistry and molecular genetics
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood,
accounting for up to 30% of cases. As with many mitochondrial disorders, complex I …
accounting for up to 30% of cases. As with many mitochondrial disorders, complex I …
Building a complex complex: Assembly of mitochondrial respiratory chain complex I
Mitochondrial complex I is the primary entry point for electrons into the electron transport
chain, required for the bulk of cellular ATP production via oxidative phosphorylation …
chain, required for the bulk of cellular ATP production via oxidative phosphorylation …
A guide to diagnosis and treatment of Leigh syndrome
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy
or early childhood. However, also late-onset cases have been reported. Since its first …
or early childhood. However, also late-onset cases have been reported. Since its first …
Mitochondrial dysfunction and seizures: the neuronal energy crisis
Seizures are often the key manifestation of neurological diseases caused by pathogenic
mutations in 169 of the genes that have so far been identified to affect mitochondrial …
mutations in 169 of the genes that have so far been identified to affect mitochondrial …
[ספר][B] Handbook of vitamins
J Zempleni, JW Suttie, JF Gregory III, PJ Stover - 2013 - books.google.com
Within the last few years, knowledge about vitamins has increased dramatically. This new
edition of a bestseller presents comprehensive summaries that analyze the chemical …
edition of a bestseller presents comprehensive summaries that analyze the chemical …