Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …

Dominant optic atrophy (DOA) is the most common form of inherited optic neuropathy.
Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the …

OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner
mitochondrial membrane, which plays a role in mitochondrial fusion. Mutations in the OPA1 …

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 …

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 …

Autosomal dominant optic atrophy (adOA) is a juvenile onset, progressive ocular disorder
characterized by bilateral loss of vision, central visual field defects, colour vision …

Autosomal dominant optic atrophy (ADOA), the commonest cause of inherited optic atrophy,
is caused by mutations in the ubiquitously expressed gene optic atrophy 1 (OPA1), involved …

purpose. Mutations in the mitochondrial dynamin-related GTPase OPA1 cause autosomal
dominant optic atrophy (ADOA), but the pathophysiology of this disease is unknown. As a …

Mitochondrial quality control is fundamental to all neurodegenerative diseases, including the
most prominent ones, Alzheimer's Disease and Parkinsonism. It is accomplished by …

We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-
related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to …