Mitochondrial function declines during ageing owing to the accumulation of deleterious
mitochondrial genomes and damage resulting from the localized generation of reactive …

Mitochondria are one of the major ancient endomembrane systems in eukaryotic cells.
Owing to their ability to produce ATP through respiration, they became a driving force in …

Mitochondria perform diverse yet interconnected functions, producing ATP and many
biosynthetic intermediates while also contributing to cellular stress responses such as …

Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …

Background: Respiratory chain (RC) disorders are clinically, biochemically, and molecularly
heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating …

In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the
clinical syndromes associated with abnormalities of the common final pathway of …

Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally
symmetrical necrotic lesions in subcortical brain regions that is commonly associated with …

Objective Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by
inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute …

We retrospectively examined clinical and biochemical characteristics of 27 patients with
isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom …

Objective: To define the spectrum of clinical and biochemical features in 51 children with
isolated complex I deficiency. Background: Mitochondrial respiratory chain defects are one …