Mitochondrial dysfunction in a novel form of autosomal recessive ataxia.
暂无分享,去创建一个
T. Dörk | N. Gueven | M. Lavin | G. Birrell | M. Ryan | D. Thorburn | P. Grattan-Smith | M. McKenzie | Jason K. Cullen | O. Becherel | Junya Kobayashi | N. Murad | Jian Yang | Jason K Cullen | O. Bécherel | N. A. Murad
[1] E. Schon,et al. Mitochondrial Genetics and Disease , 2014, Journal of child neurology.
[2] David M. Wilson,et al. Aprataxin localizes to mitochondria and preserves mitochondrial function , 2011, Proceedings of the National Academy of Sciences.
[3] A. Amoroso,et al. A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. , 2010, DNA repair.
[4] C. Marescaux,et al. Unexpected combination of inherited chorea‐acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease , 2010, Clinical genetics.
[5] G. Hajnóczky,et al. SR/ER-mitochondrial local communication: calcium and ROS. , 2009, Biochimica et biophysica acta.
[6] M. Lavin,et al. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. , 2009, Human molecular genetics.
[7] M. Lavin,et al. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer , 2008, Nature Reviews Molecular Cell Biology.
[8] M. Marchenko,et al. Oxidative destruction of mitochondrial translation products after fractionated irradiation of rats with tumor , 2007, Bulletin of Experimental Biology and Medicine.
[9] R. Gatti,et al. Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. , 2007, Human molecular genetics.
[10] M. Gatei,et al. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage , 2007, The Journal of cell biology.
[11] N. Gueven,et al. A subgroup of spinocerebellar ataxias defective in DNA damage responses , 2007, Neuroscience.
[12] C. Mothersill,et al. A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance , 2007, Cell Death and Differentiation.
[13] John E. Walker,et al. Bovine Complex I Is a Complex of 45 Different Subunits* , 2006, Journal of Biological Chemistry.
[14] M. Beal,et al. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases , 2006, Nature.
[15] S. West,et al. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates , 2006, Nature.
[16] I. Glass,et al. Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease , 2006, Neurobiology of Disease.
[17] N. Gueven,et al. Defective p53 response and apoptosis associated with an ataxia-telangiectasia-like phenotype. , 2006, Cancer research.
[18] A. Dürr,et al. New autosomal recessive cerebellar ataxias with oculomotor apraxia , 2005, Current neurology and neuroscience reports.
[19] Modesto Orozco,et al. PMUT: a web-based tool for the annotation of pathological mutations on proteins , 2005, Bioinform..
[20] B. McLaughlin,et al. The ubiquitin-proteasome system as a drug target in cerebrovascular disease: therapeutic potential of proteasome inhibitors. , 2005, Current opinion in investigational drugs.
[21] R. Weindruch,et al. Ageing, oxidative stress, and mitochondrial uncoupling. , 2004, Acta physiologica Scandinavica.
[22] D. Thorburn,et al. Respiratory chain enzyme analysis in muscle and liver. , 2004, Mitochondrion.
[23] Osamu Onodera,et al. Aprataxin, a novel protein that protects against genotoxic stress. , 2004, Human molecular genetics.
[24] Icksoo Lee,et al. The possible role of cytochrome c oxidase in stress-induced apoptosis and degenerative diseases. , 2004, Biochimica et biophysica acta.
[25] Y. Agid,et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. , 2004, Brain : a journal of neurology.
[26] J. Schulz,et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 , 2004, Nature Genetics.
[27] M. Koenig. Rare forms of autosomal recessive neurodegenerative ataxia. , 2003, Seminars in pediatric neurology.
[28] T. Gibson,et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin , 2001, Nature Genetics.
[29] S. Sugano,et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene , 2001, Nature Genetics.
[30] T. Klockgether. Recent advances in degenerative ataxias , 2000, Current opinion in neurology.
[31] T. Stankovic,et al. The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder , 1999, Cell.
[32] A. Munnich,et al. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency , 1999, Human Genetics.
[33] D. Thorburn,et al. Respiratory chain complex I deficiency , 1999, Neurology.
[34] A. Shevchenko,et al. Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels. , 1996, Analytical chemistry.
[35] B. Ames,et al. Oxidative damage and mitochondrial decay in aging. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[36] F. Andermann,et al. Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia‐telangiectasia , 1988 .
[37] D. Cogan. A type of congenital ocular motor apraxia presenting jerky head movements. , 1952, Transactions - American Academy of Ophthalmology and Otolaryngology. American Academy of Ophthalmology and Otolaryngology.
[38] M. Lazarou,et al. Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits. , 2009, Methods in enzymology.
[39] E. Sutter,et al. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. , 2006, Transactions of the American Ophthalmological Society.
[40] Hirst,et al. Bovine complex I is a complex of forty-five different subunits , 2006 .
[41] Y. Shiloh,et al. The genetic defect in ataxia-telangiectasia. , 1997, Annual review of immunology.
[42] A. Schapira,et al. Mitochondrial disorders: an overview. , 1997, Journal of bioenergetics and biomembranes.
[43] A. Torroni,et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations , 1995, Human mutation.
[44] E. Boder. Ataxia-telangiectasia: some historic, clinical and pathologic observations. , 1975, Birth defects original article series.