OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

By C. Alexander, M. Votruba, U. E. Pesch, D. Thiselton, S. Mayer, A. Moore, M. Rodríguez, U. Kellner, B. Leo-Kottler, G. Auburger and 2 more. Nature Genetics, 2000

1,374 citations recorded by the source corpus.

Subfields: Cell Biology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/d7327f4440ca654b975ab4ca50b3b53617492a80

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cell Biology

In Molecular Biology

Citations in the corpus

Mitochondrial fusion and fission in mammals. (2006, background): “Because neurodegenerative diseases can be caused by mutations in human Mfn2 or OPA1 (Alexander et al. 2000, Delettre et al. 2000, Zuchner et al. 2004), certain neurons likely are particularly vulnerable to perturbations in mitochondrial dynamics.”
Mitochondrial Fusion Protects against Neurodegeneration in the Cerebellum (2007, neutral): “Mutations in OPA1 cause dominant optic atrophy (DOA), the most commonly inherited form of optic nerve degeneration (Alexander et al., 2000; Delettre et al., 2000).”
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).”
Mechanisms of mitochondrial fission and fusion. (2013, background): “The human homolog was named Opa1 for the optic atrophy defects (Alexander et al. 2000; Delettre et al. 2000).”
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations (2010, neutral): “Mutations in Mfn2 and OPA1 (Alexander et al., 2000; Delettre et al., 2000; Zuchner et al., 2004) cause two neurodegenerative diseases-Charcot-Marie-Tooth type 2A and dominant optic atrophy, respectively.”
SLP‐2 is required for stress‐induced mitochondrial hyperfusion (2009, neutral): “Moreover, in humans, point mutations in MFN2 and OPA1 lead to severe neurodegenerative diseases such as Charcot–Marie–Tooth type 2A and dominant optic atrophy, respectively (Alexander et al , 2000; Delettre et al , 2000; Zuchner et al , 2004).”
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).”
Mitochondrial dynamics in mammalian health and disease. (2009, background): “Although it is expressed in all the tissues assayed, OPA1 shows a specific tissue expression pattern, with the highest expression in the retina, brain, testis, liver, heart, skeletal muscle, and pancreas (3, 76).”
Dynamics of mitochondrial morphology in healthy cells and during apoptosis (2003, background): “logues ofMgm1 are thus calledOPA1), a neuropathy resulting from the loss of retinal ganglion cells.(31,34) Human OPA1 is tightly attached to the outer leaflet of the IMM, close to the cristae, as revealed by biochemical and immunoelectron microscopy analysis.”
Metabolic regulation of mitochondrial dynamics (2016, background): “Mutations in Opa1 cause dominant optic atrophy, a blindness caused by degeneration of retinal ganglion cells (Alexander et al., 2000; Delettre et al., 2000, 2002).”
Calcium, ATP, and ROS: a mitochondrial love-hate triangle. (2004, background): “These events would enhance ROS generation from the Q cycle (4).”