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Calvo S, Jain M, Xie X, et al. Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 2006; 38:576-582. The authors describe an integrated genomic approach for the definition of the mitochondrial proteome, which is estimated to be composed of over 1500 gene products in humans, and experimental evidence is provided which validates the specificity and sensitivity of the methodology.
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Baruffini E, Lodi T, Dallabona C, et al. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 2006; 15:2846-2855. Faulty OXPHOS in yeast, determined by mutations in the mtDNA polymerase corresponding to those found in human patients, can be corrected by either increasing the availability of deoxynucleotides, the 'building blocks' of mtDNA synthesis, or by exposure to antioxidant scavengers.
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Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006; 129:1674-1684. This is a clinical-genetic study on the largest collection to date of pol-γA mutant patients.
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Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006; 129:1674-1684. This is a clinical-genetic study on the largest collection to date of pol-γA mutant patients.
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de Vries MC, Rodenburg RJ, Morava E, et al. Multiple oxidative phosphorylation deficiencies in severe childhood multisystem disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr 2007; 166:229-234.
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This was an interesting clinical-pathological study on infantile phenotypes associated with pol-γA mutations
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Kollberg G, Moslemi AR, Darin N, et al. POLG1 mutations associated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 2006; 65:758-768. This was an interesting clinical-pathological study on infantile phenotypes associated with pol-γA mutations.
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Kollberg, G.1
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Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006; 129:1685-1692. The A467T and W748S mutations are relatively common in Scandinavian countries, due to the dissemination of ancestral alleles [36]. This explains the high frequency of spino-cerebellar ataxia with epilepsy, and of Alpers-Huttenlocher syndrome, in Scandinavian and other Northern European populations, due to homozygosity, or compound heterozygosity, of these mutations.
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Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006; 129:1685-1692. The A467T and W748S mutations are relatively common in Scandinavian countries, due to the dissemination of ancestral alleles [36]. This explains the high frequency of spino-cerebellar ataxia with epilepsy, and of Alpers-Huttenlocher syndrome, in Scandinavian and other Northern European populations, due to homozygosity, or compound heterozygosity, of these mutations.
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Longley MJ, Clark S, Yu Wai Man C, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006; 78:1026-1034. This paper reports the first mutation in POLG2 in a heterozygous PEO patient. This observation should prompt neurologists to include POLG2 in the genetic screening of familial PEO and, possibly, of other phenotypes associated with pol-γ malfunctioning.
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Longley MJ, Clark S, Yu Wai Man C, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006; 78:1026-1034. This paper reports the first mutation in POLG2 in a heterozygous PEO patient. This observation should prompt neurologists to include POLG2 in the genetic screening of familial PEO and, possibly, of other phenotypes associated with pol-γ malfunctioning.
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Bourdon A, Minai L, Serre V, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007; 39:776-780. This study demonstrated that depletion of muscle mtDNA, and possibly other forms of mtDNA instability, can occur with defects in enzymes that control the pools of nucleotides not just within the organelle but, more generally, in the cell. Another example is thymidine phosphorylase, a cytosolic enzyme involved in the catabolism of pyrimidines, which is responsible for MNGIE.
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Bourdon A, Minai L, Serre V, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007; 39:776-780. This study demonstrated that depletion of muscle mtDNA, and possibly other forms of mtDNA instability, can occur with defects in enzymes that control the pools of nucleotides not just within the organelle but, more generally, in the cell. Another example is thymidine phosphorylase, a cytosolic enzyme involved in the catabolism of pyrimidines, which is responsible for MNGIE.
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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
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Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007; 130:862-874.
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Ostergaard E, Hansen FJ, Sorensen N, et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007; 130:853-861. SUCLA2 is part of the Krebs cycle and is particularly active in the brain; succinate derived from succinyl-CoA, which accumulates as a consequence of the enzymatic defect, is converted into methylmalonic acid and excreted in the urine. These features explain the severe encephalopathy associated with SUCLA2 defects and the methylmalonic aciduria, a metabolic hallmark of this severe form of MDS. The mechanism leading to depletion of mtDNA, however, is still poorly understood.
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Ostergaard E, Hansen FJ, Sorensen N, et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007; 130:853-861. SUCLA2 is part of the Krebs cycle and is particularly active in the brain; succinate derived from succinyl-CoA, which accumulates as a consequence of the enzymatic defect, is converted into methylmalonic acid and excreted in the urine. These features explain the severe encephalopathy associated with SUCLA2 defects and the methylmalonic aciduria, a metabolic hallmark of this severe form of MDS. The mechanism leading to depletion of mtDNA, however, is still poorly understood.
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Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006; 38:570-575. MPV17 is a 30 kDa mitochondrial inner membrane protein of unknown function. The clinical presentation varies from fulminant hepatic failure to cerebellar and sensory ataxia with moderate liver involvement. Similar to humans, Mpv17 knockout mice show severe mtDNA depletion in liver and to a lesser extent in muscle as well.
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Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006; 38:570-575. MPV17 is a 30 kDa mitochondrial inner membrane protein of unknown function. The clinical presentation varies from fulminant hepatic failure to cerebellar and sensory ataxia with moderate liver involvement. Similar to humans, Mpv17 knockout mice show severe mtDNA depletion in liver and to a lesser extent in muscle as well.
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Karadimas CL, Vu TH, Holve SA, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006; 79:544-548. Navajo neuro-hepatopathy is a MDS variant endemic among the inbred Navajo population of southwest USA with a prevalence as high as 1 : 1600 live births.
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Karadimas CL, Vu TH, Holve SA, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006; 79:544-548. Navajo neuro-hepatopathy is a MDS variant endemic among the inbred Navajo population of southwest USA with a prevalence as high as 1 : 1600 live births.
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Quinzii CM, Hirano M, Dimauro S. CoQ(10) deficiency diseases in adults. Mitochondrion 2007; 7 (Suppl 1):S122-S126. Primary CoQ10 deficiency is a potentially treatable autosomal recessive condition with a clinical spectrum that encompasses at least five major phenotypes in adults or infants: encephalomyopathy characterized by the triad of recurrent myoglobinuria, brain involvement and ragged red fibers; severe infantile multisystemic disease; cerebellar ataxia; Leigh syndrome with growth retardation, ataxia and deafness; and isolated myopathy.
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2+-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet 2007; 16:431-444. Ablation of Surf1 in a mouse recombinant model shows reduced calcium neuronal excitotoxicity upon glutamatergic stimulus in vivo and in cell cultures. This neuroprotective effect is likely to be linked to marked increase in the lifespan of knockout mice.
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Davies VJ, Hollins AJ, Piechota MJ, et al. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum Mol Genet 2007; 16:1307-1318. Both OPA1 mouse models [87,88•] are based on mutations inducing haploin-sufficiency and both show how homozygosity is embryonically lethal, whereas heterozygous animals develop age-dependent optic neuropathy.
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Early onset severe and late-onset mild Charcot- Marie-Tooth disease with mitofusin 2 (MFN2) mutations
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Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot- Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006; 129:2103-2118.
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(2006)
Brain
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Chung, K.W.1
Kim, S.B.2
Park, K.D.3
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90
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
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Verhoeven K, Claeys KG, Zuchner S, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006; 129:2093-2102.
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(2006)
Brain
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Verhoeven, K.1
Claeys, K.G.2
Zuchner, S.3
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91
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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
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Zuchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006; 59:276-281.
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(2006)
Ann Neurol
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Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
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Carelli V, La Morgia C, Iommarini L, et al. Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Biosci Rep 2007; 27:173-184. In a subset of MFN2 patients, optic atrophy is reported, with some hallmark features of mitochondrial optic neuropathies, grouping this disease with LHON, OPA1-related ADOA, complicated spastic paraparesis due to mutant paraplegin, and Friedreich ataxia.
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Carelli V, La Morgia C, Iommarini L, et al. Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Biosci Rep 2007; 27:173-184. In a subset of MFN2 patients, optic atrophy is reported, with some hallmark features of mitochondrial optic neuropathies, grouping this disease with LHON, OPA1-related ADOA, complicated spastic paraparesis due to mutant paraplegin, and Friedreich ataxia.
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Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 2007; 27:422-430. Mutant MFN2 expressed in cultured dorsal root ganglion neurons impairs axoplasmic transport, alters the mitochondrial shape and distribution and induces axonal degeneration without altering mitochondrial OXPHOS or ATP levels.
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Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 2007; 27:422-430. Mutant MFN2 expressed in cultured dorsal root ganglion neurons impairs axoplasmic transport, alters the mitochondrial shape and distribution and induces axonal degeneration without altering mitochondrial OXPHOS or ATP levels.
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Loiseau D, Chevrollier A, Verny C, et al. Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol 2007; 61:315-323. In contrast with the previous study [93•], this paper reports that mutations in MFN2 are deleterious for fibroblast cell bioenergetics, by inducing mitochondrial uncoupling and reduction of mitochondrial membrane potential.
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Loiseau D, Chevrollier A, Verny C, et al. Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol 2007; 61:315-323. In contrast with the previous study [93•], this paper reports that mutations in MFN2 are deleterious for fibroblast cell bioenergetics, by inducing mitochondrial uncoupling and reduction of mitochondrial membrane potential.
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Waterham HR, Koster J, van Roermund CW, et al. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 2007; 356:1736-1741. The infant patient presented microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. Excessive tubulization of the mitochondrial meshwork was documented in her fibroblasts. DLP1 controls the fission of both mitochondria and peroxisomes; this is the first genetically documented defect common to both organelles.
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Waterham HR, Koster J, van Roermund CW, et al. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 2007; 356:1736-1741. The infant patient presented microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. Excessive tubulization of the mitochondrial meshwork was documented in her fibroblasts. DLP1 controls the fission of both mitochondria and peroxisomes; this is the first genetically documented defect common to both organelles.
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Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006; 38:515-517. Using single cell microdissection, Bender et al. show that somatic mtDNA rearrangements accumulate in the dopaminergic neurons of Parkinson's disease patients, reaching levels (>50%) that are usually associated with OXPHOS failure. The latter was proven to occur by showing that neurons with high levels of deletions are also deficient in cytochrome c oxidase activity. The substantia nigra seems to be exquisitely prone to accumulate damaged mtDNA, since other areas of the brain, for instance the hippocampus, showed much lower levels of deletions in both Parkinson's disease patients and age-matched controls.
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Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006; 38:515-517. Using single cell microdissection, Bender et al. show that somatic mtDNA rearrangements accumulate in the dopaminergic neurons of Parkinson's disease patients, reaching levels (>50%) that are usually associated with OXPHOS failure. The latter was proven to occur by showing that neurons with high levels of deletions are also deficient in cytochrome c oxidase activity. The substantia nigra seems to be exquisitely prone to accumulate damaged mtDNA, since other areas of the brain, for instance the hippocampus, showed much lower levels of deletions in both Parkinson's disease patients and age-matched controls.
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97
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Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons
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Ekstrand MI, Terzioglu M, Galter D, et al. Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons. Proc Natl Acad Sci U S A 2007; 104:1325-1330.
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(2007)
Proc Natl Acad Sci U S A
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Ekstrand, M.I.1
Terzioglu, M.2
Galter, D.3
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98
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PINK1 mutations in sporadic early-onset Parkinson's disease
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Tan EK, Yew K, Chua E, et al. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord 2006; 21:789-793.
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(2006)
Mov Disord
, vol.21
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Tan, E.K.1
Yew, K.2
Chua, E.3
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99
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Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
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Ibanez P, Lesage S, Lohmann E, et al. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain 2006; 129:686-694.
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(2006)
Brain
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Ibanez, P.1
Lesage, S.2
Lohmann, E.3
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100
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PINK1 mutation heterozygosity and the risk of Parkinson's disease
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Toft M, Myhre R, Pielsticker L, et al. PINK1 mutation heterozygosity and the risk of Parkinson's disease. J Neurol Neurosurg Psychiatry 2007; 78:82-84.
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(2007)
J Neurol Neurosurg Psychiatry
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Toft, M.1
Myhre, R.2
Pielsticker, L.3
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101
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Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
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Djarmati A, Hedrich K, Svetel M, et al. Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? Mov Disord 2006; 21:1526-1530.
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(2006)
Mov Disord
, vol.21
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Djarmati, A.1
Hedrich, K.2
Svetel, M.3
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102
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Cytotoxicity of a mutant huntingtin fragment in yeast involves early alterations in mitochondrial OXPHOS complexes II and III
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Solans A, Zambrano A, Rodriguez M, Barrientos A. Cytotoxicity of a mutant huntingtin fragment in yeast involves early alterations in mitochondrial OXPHOS complexes II and III. Hum Mol Genet 2006; 15:3063-3081.
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(2006)
Hum Mol Genet
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Solans, A.1
Zambrano, A.2
Rodriguez, M.3
Barrientos, A.4
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103
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Fukui H, Moraes CT. Extended polyglutamine repeats trigger a feedback loop involving the mitochondrial complex III, the proteasome and huntingtin aggregates. Hum Mol Genet 2007; 16:783-797. The papers by Solans et al. [102] and Fukui et al. [103•] both show that expression of mutant htt fragments containing pathological poly-glutamine expansions inhibit cell respiration by decreasing the activity of complexes II and III. These findings provide a link between the primary defect in Huntington's disease and OXPHOS impairment, possibly mediated by oxidative stress.
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Fukui H, Moraes CT. Extended polyglutamine repeats trigger a feedback loop involving the mitochondrial complex III, the proteasome and huntingtin aggregates. Hum Mol Genet 2007; 16:783-797. The papers by Solans et al. [102] and Fukui et al. [103•] both show that expression of mutant htt fragments containing pathological poly-glutamine expansions inhibit cell respiration by decreasing the activity of complexes II and III. These findings provide a link between the primary defect in Huntington's disease and OXPHOS impairment, possibly mediated by oxidative stress.
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104
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Weydt P, Pineda VV, Torrence AE, et al. Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC1-alpha in Huntington's disease neurodegeneration. Cell Metab 2006; 4:349-362. PGC1-α is a master regulator of mitochondrial biogenesis and OXPHOS. Overexpression of PGC1-α in Huntington's disease striatal neurons was protective against complex II damage induced by 3-nitropropionic acid, a classical pharmacological model of Huntington's disease. PolyQ-expanded htt has been shown to alter transcription of a number of genes, including PGC1-α. In turn, transcriptional dysregulation of OXPHOS genes, induced by reduced PGC1-α expression, can contribute to the pathogenesis of Huntington's disease.
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Weydt P, Pineda VV, Torrence AE, et al. Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC1-alpha in Huntington's disease neurodegeneration. Cell Metab 2006; 4:349-362. PGC1-α is a master regulator of mitochondrial biogenesis and OXPHOS. Overexpression of PGC1-α in Huntington's disease striatal neurons was protective against complex II damage induced by 3-nitropropionic acid, a classical pharmacological model of Huntington's disease. PolyQ-expanded htt has been shown to alter transcription of a number of genes, including PGC1-α. In turn, transcriptional dysregulation of OXPHOS genes, induced by reduced PGC1-α expression, can contribute to the pathogenesis of Huntington's disease.
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105
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PGC-1alpha, a new therapeutic target in Huntington's disease?
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McGill JK, Beal MF. PGC-1alpha, a new therapeutic target in Huntington's disease? Cell 2006; 127:465-468.
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(2006)
Cell
, vol.127
, pp. 465-468
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McGill, J.K.1
Beal, M.F.2
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