NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder

Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload

(2012) Jerome Piquereau et al.   CARDIOVASCULAR RESEARCH

Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis

(2011) Guillaume Pidoux et al.   EMBO JOURNAL

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Retinal Nerve Fiber Layer Thickness in Dominant Optic Atrophy

(2011) Piero Barboni et al.   OPHTHALMOLOGY

Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy

(2010) P. A. Williams et al.   BRAIN

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size

(2010) Piero Barboni et al.   OPHTHALMOLOGY

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

(2010) Patrick Yu-Wai-Man et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The Neuro-ophthalmology of Mitochondrial Disease

(2010) J. Alexander Fraser et al.   SURVEY OF OPHTHALMOLOGY

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

(2009) Marc Ferré et al.   HUMAN MUTATION

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

(2008) M. Zeviani   BRAIN

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

(2008) Marco Spinazzi et al.   HUMAN MOLECULAR GENETICS

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation

(2008) M. Liguori et al.   JOURNAL OF NEUROLOGY

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

(2008) J. D. Stewart et al.   NEUROLOGY

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN