Cardiac ATP production primarily depends on oxidative phosphorylation in mitochondria
and is dynamically regulated by Ca 2+ levels in the mitochondrial matrix as well as by …

Mitochondrial function is critically dependent on the folding of the mitochondrial inner
membrane into cristae; indeed, numerous human diseases are associated with aberrant …

Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial
dysfunction. We report an optic atrophy spectrum disorder, including retinal macular …

Cellular communication is an essential process for the development and maintenance of all
tissues including the eye. Recently, a new method of cellular communication has been …

Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of
diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played …

We previously documented that idebenone treatment in OPA1‐Dominant Optic Atrophy
(OPA1‐DOA) led to some degrees of visual improvement in seven patients. We here present …

Objective Dominant optic atrophy (DOA) is the most common inherited optic neuropathy,
with a prevalence of 1: 12,000 to 1: 25,000. OPA1 mutations are found in 70% of DOA …

Abstract Interpretation of variants of uncertain significance is an actual major challenge. We
addressed this question on a set of OPA1 missense variants responsible for variable …

Purpose: Retinal ganglion cells (RGCs) are susceptible to mitochondrial deficits and also
the major cell type affected in patients with mutations in the OPA1 gene in autosomal …

OPA1 mutations are the major cause of dominant optic atrophy (DOA) and the syndromic
form DOA plus, pathologies for which there is no established cure. We used a 'drug …