Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Skre, 1974, Genetic and clinical aspects of Charcot-Marie-Tooth’s disease, Clin. Genet., 6, 98, 10.1111/j.1399-0004.1974.tb00638.x Pareyson, 2009, Diagnosis, natural history, and management of Charcot-Marie-Tooth disease, Lancet Neurol., 8, 654, 10.1016/S1474-4422(09)70110-3 Boerkoel, 2002, Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation, Ann. Neurol., 51, 190, 10.1002/ana.10089 Bergoffen, 1993, Connexin mutations in X-linked Charcot-Marie-Tooth disease, Science, 262, 2039, 10.1126/science.8266101 Kim, 2007, Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5), Am. J. Hum. Genet., 81, 552, 10.1086/519529 Cowchock, 1985, X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder, Am. J. Med. Genet., 20, 307, 10.1002/ajmg.1320200214 Fischbeck, 1986, X-linked neuropathy: gene localization with DNA probes, Ann. Neurol., 20, 527, 10.1002/ana.410200414 Priest, 1995, A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26, Genomics, 29, 409, 10.1006/geno.1995.9987 Biesecker, 2009, The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine, Genome Res., 19, 1665, 10.1101/gr.092841.109 Susin, 1999, Molecular characterization of mitochondrial apoptosis-inducing factor, Nature, 397, 441, 10.1038/17135 Joza, 2001, Essential role of the mitochondrial apoptosis-inducing factor in programmed cell death, Nature, 410, 549, 10.1038/35069004 Lorenzo, 1999, Apoptosis inducing factor (AIF): a phylogenetically old, caspase-independent effector of cell death, Cell Death Differ., 6, 516, 10.1038/sj.cdd.4400527 Otera, 2005, Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space, EMBO J., 24, 1375, 10.1038/sj.emboj.7600614 Miramar, 2001, NADH oxidase activity of mitochondrial apoptosis-inducing factor, J. Biol. Chem., 276, 16391, 10.1074/jbc.M010498200 Maté, 2002, The crystal structure of the mouse apoptosis-inducing factor AIF, Nat. Struct. Biol., 9, 442, 10.1038/nsb793 Sevrioukova, 2009, Redox-linked conformational dynamics in apoptosis-inducing factor, J. Mol. Biol., 390, 924, 10.1016/j.jmb.2009.05.013 Sevrioukova, 2011, Apoptosis-inducing factor: structure, function, and redox regulation, Antioxid. Redox Signal., 14, 2545, 10.1089/ars.2010.3445 Churbanova, 2008, Redox-dependent changes in molecular properties of mitochondrial apoptosis-inducing factor, J. Biol. Chem., 283, 5622, 10.1074/jbc.M709147200 Klein, 2002, The harlequin mouse mutation downregulates apoptosis-inducing factor, Nature, 419, 367, 10.1038/nature01034 Vahsen, 2004, AIF deficiency compromises oxidative phosphorylation, EMBO J., 23, 4679, 10.1038/sj.emboj.7600461 Apostolova, 2006, Loss of apoptosis-inducing factor leads to an increase in reactive oxygen species, and an impairment of respiration that can be reversed by antioxidants, Cell Death Differ., 13, 354, 10.1038/sj.cdd.4401776 Ghezzi, 2010, Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor, Am. J. Hum. Genet., 86, 639, 10.1016/j.ajhg.2010.03.002 Berger, 2011, Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing, Mol. Genet. Metab., 104, 517, 10.1016/j.ymgme.2011.09.020