OPA1 is a GTPase that controls several functions, such as mitochondrial dynamics and
energetics, mtDNA maintenance and cristae integrity. In the last years, there have been …

The OPA1 gene, encoding a dynamin-like mitochondrial GTPase, is involved in autosomal
dominant optic atrophy (ADOA, OMIM# 165500). ADOA, also known as Kjer's optic atrophy …

Background Up to the 1950s, there was an ongoing debate about the diversity of hereditary
optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to …

In the year 2000, the discovery of OPA1 mutations as causative for dominant optic atrophy
(DOA) was pivotal to rapidly expand the field of mitochondrial dynamics and describe the …

Abstract Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the
main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion …

OPA1 is the major gene responsible for Dominant Optic Atrophy (DOA), a blinding disease
that affects specifically the retinal ganglion cells (RGCs), which function consists in …

Objective OPA 1 mutations cause protein haploinsufficiency leading to dominant optic
atrophy (DOA), an incurable retinopathy with variable severity. Up to 20% of patients also …

Abstract Optic atrophy 1 (OPA1) mutations cause dominant optic atrophy (DOA) with retinal
ganglion cell (RGC) and optic nerve degeneration. The mechanism for the selective …

Sir, Autosomal dominant optic atrophy (DOA) is a common cause of inherited visual failure
affecting at least 1 in 35000 of the general population (Yu-Wai-Man et al., 2010a) …

Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in
mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically …