Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

(2014) S. Ahola et al.   NEUROLOGY

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

(2013) Xavier Gerard et al.   Molecular Therapy-Nucleic Acids

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

(2012) Ronen Spiegel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

(2011) Valerio Carelli et al.   HUMAN MOLECULAR GENETICS

Inhibition of aconitase in citrus fruit callus results in a metabolic shift towards amino acid biosynthesis

(2011) Asfaw Degu et al.   PLANTA

Revisiting the TCA cycle: signaling to tumor formation

(2011) Nuno Raimundo et al.   TRENDS IN MOLECULAR MEDICINE

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

(2009) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle

(2008) Dyonne T Hartong et al.   NATURE GENETICS