Mitochondrial dysfunction in a novel form of autosomal recessive ataxia.

[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.