Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and
involved in various aspects of cellular life, with a primary role in energy production. The …

Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …

Mitochondrion harbors its own DNA (mtDNA), which encodes many critical proteins for the
assembly and activity of mitochondrial respiratory complexes. mtDNA is packed by many …

The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

We show that amino acid covariation in proteins, extracted from the evolutionary sequence
record, can be used to fold transmembrane proteins. We use this technique to predict …

Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited
retinal disease and to describe its performance in 1000 consecutive families seen by a …

Maternally transmitted non–syndromic deafness was described recently both in pedigrees
with susceptibility to aminoglycoside ototoxicity and in a large Arab–Israeli pedigree …

The visual system is one of the most energetically demanding systems in the brain. The
currency of energy is ATP, which is generated most efficiently from oxidative metabolism in …