Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

By C. Delettre, G. Lenaers, J. Griffoin, N. Gigarel, Corinne Lorenzo, P. Belenguer, L. Pelloquin, J. Grosgeorge, C. Turc‐Carel, E. Perret and 6 more. Nature Genetics, 2000

1,482 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/819e5a6bf42f681d88ac0d020edb135fb75031f6

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Citations in the corpus

Calcium, ATP, and ROS: a mitochondrial love-hate triangle. (2004, background): “Similarly, Mfn / mice die at midgestation (31), and the human homolog of Mgm1p has been identified as OPA1, which causes hereditary blindness when mutated (4, 46).”
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases (2009, background): “Mutations in OPA1 are the predominant cause of autosomal dominant optic atrophy (DOA), a degeneration of retinal ganglia cells that leads to optic nerve atrophy (9,10).”
The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice (2009, background): “Mitochondrial fusion defects cause human neuropathies, including autosomal dominant optic atrophy and Charcot-Marie-Tooth disease type 2A (Alexander et al., 2000; Delettre et al., 2000; Züchner et al., 2004).”
Nitric oxide‐induced mitochondrial fission is regulated by dynamin‐related GTPases in neurons (2006, background): “OPA1 mutations cause autosomal dominant optic atrophy characterized by retinal ganglion cell and optic nerve degeneration (Delettre et al, 2000).”
Cellular and molecular mechanisms of mitochondrial function (2012, background): “55 OPA1 consists of 8 isoforms and the steady state morphology of the organelle is dependent on the balance of long (L) and short (S) isoforms.”
Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling. (2006, background): “OPA1 pro- motes mitochondrial fusion by cooperating with MFN1 (Cipolat et al., 2004) and is mutated in dominant optic atrophy, the most common cause of inherited optic neu- ropathy (Alexander et al., 2000; Delettre et al., 2000).”
Mitochondria: In Sickness and in Health (2012, background): “…and cardiomyopathy (Waterham et al., 2007; Ashrafian et al., 2010) Mutations in MFN2 and OPA1 cause tissue-specific neurodegenerative diseases, Charcot Marie Tooth 2A (CMT2A) and dominant optic atrophy (DOA), respectively (Alexander et al., 2000; Delettre et al., 2000; Züchner et al., 2004).”
Mitochondrial dysfunction as a cause of optic neuropathies. (2004, background): “In 2000, two different groups simultaneously communicated the identification of the OPA1 gene (Delettre et al., 2000; Alexander et al., 2000), reporting that the protein encoded is a dynamin-related GTPase targeted to mitochondria.”
OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L (2007, neutral): “Mutation of OPA1 causes the disease dominant optic atrophy, a degeneration of the retinal ganglion cells (Alexander et al., 2000; Delettre et al., 2000).”