Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

[1]  F. Hartl,et al.  Dissertation zur Erlangung des Doktorgrades der Fakultät für Chemie und Pharmazie der Ludwig-Maximilians-Universität München Structural Features of the GroEL-GroES Nano-Cage Required for Rapid Folding of Encapsulated Protein , 2007 .

[2]  N. Bot,et al.  A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha. , 2005, Biochemical and biophysical research communications.

[3]  P. Bross,et al.  Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins. , 2005, Molecular genetics and metabolism.

[4]  Alejandro Chavez,et al.  Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[5]  A. Ribes,et al.  A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60 , 1997, Journal of Inherited Metabolic Disease.

[6]  K. Christensen,et al.  Association Between Low Self-Rated Health and Heterozygosity for −110A > C Polymorphism in the Promoter Region of HSP70-1 in Aged Danish Twins , 2004, Biogerontology.

[7]  P. Briones,et al.  Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditions , 2004, Virchows Archiv.

[8]  Nancy M Bonini,et al.  Human neurodegenerative disease modeling using Drosophila. , 2003, Annual review of neuroscience.

[9]  P. Underhill,et al.  Molecular variation of human HSP90α and HSP90β genes in Caucasians , 2003 .

[10]  D. Botstein,et al.  Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease , 2003, Nature Genetics.

[11]  Roger W Byard,et al.  Sudden Infant Death Syndrome: Overview and Update , 2003, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[12]  Anders D. Børglum,et al.  Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter , 2003, Human Genetics.

[13]  P. Underhill,et al.  Molecular variation of human HSP90alpha and HSP90beta genes in Caucasians. , 2003, Human mutation.

[14]  M. Ryan,et al.  A mitochondrial specific stress response in mammalian cells , 2002, The EMBO journal.

[15]  Santiago F. Elena,et al.  Endosymbiotic bacteria: GroEL buffers against deleterious mutations , 2002, Nature.

[16]  S. Lindquist,et al.  Hsp90 as a capacitor of phenotypic variation , 2002, Nature.

[17]  A. Dürr,et al.  Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. , 2002, American journal of human genetics.

[18]  Anders D. Børglum,et al.  Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter , 2002, Human Genetics.

[19]  L. Biesecker,et al.  Unfolding the role of chaperones and chaperonins in human disease. , 2001, Trends in genetics : TIG.

[20]  I Knudsen,et al.  Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. , 2001, American journal of human genetics.

[21]  Joseph H. Nadeau,et al.  Modifier genes in mice and humans , 2001, Nature Reviews Genetics.

[22]  C. Georgopoulos,et al.  The Importance of a Mobile Loop in Regulating Chaperonin/ Co-chaperonin Interaction , 2001, The Journal of Biological Chemistry.

[23]  J. Vockley,et al.  Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency , 2001, Pediatric Research.

[24]  S. Karlin,et al.  Conservation among HSP60 sequences in relation to structure, function, and evolution , 2008, Protein science : a publication of the Protein Society.

[25]  H. Zoghbi,et al.  Identification of genes that modify ataxin-1-induced neurodegeneration , 2000, Nature.

[26]  E R McCabe,et al.  Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. , 2000, American journal of human genetics.

[27]  L. Segovia,et al.  Molecular characterization of the 5′ control region and of two lethal alleles affecting the hsp60 gene in Drosophila melanogaster , 1999, FEBS letters.

[28]  E. Lander,et al.  Characterization of single-nucleotide polymorphisms in coding regions of human genes , 1999, Nature Genetics.

[29]  S. Lindquist,et al.  Hsp90 as a capacitor for morphological evolution , 1998, Nature.

[30]  P. Jenö,et al.  Identification of in vivo substrates of the yeast mitochondrial chaperonins reveals overlapping but non‐identical requirement for hsp60 and hsp10 , 1998, The EMBO journal.

[31]  S. Yamaguchi,et al.  [Short-chain acyl-CoA dehydrogenase (SCAD) deficiency]. , 1998, Ryoikibetsu shokogun shirizu.

[32]  N. Gregersen,et al.  Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. , 1997, Molecular pathology : MP.

[33]  A. Rigby,et al.  Gene polymorphisms and the use of the Bonferroni correction factor: when and when not to apply? , 1997, Archives of Disease in Childhood.

[34]  R. Burdon,et al.  Human heat shock protein gene polymorphisms and sudden infant death syndrome. , 1996, Archives of disease in childhood.

[35]  L. Bolund,et al.  Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase , 1996, Pediatric Research.

[36]  B. Mach,et al.  Genetic complexity of the human hsp 60 gene. , 1996, International immunology.

[37]  D. Gozal Deficient heat shock protein expression: a potential mechanism for the sudden infant death syndrome. , 1996, Medical hypotheses.

[38]  L. Bolund,et al.  Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme (*) , 1995, The Journal of Biological Chemistry.

[39]  A. Huckriede,et al.  Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy. , 1994, Biochimica et biophysica acta.

[40]  K. Tanaka,et al.  Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer. , 1994, Journal of Biological Chemistry.

[41]  L. Bolund,et al.  Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. , 1993, Biochimica et biophysica acta.

[42]  K. Skullerud,et al.  A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. , 1993, Biochemical and biophysical research communications.

[43]  N. Lissin,et al.  The strongly conserved carboxyl‐terminus glycine‐methionine motif of the Escherichia coli GroEL chaperonin is dispensable , 1993, Molecular microbiology.

[44]  H. Eiberg,et al.  Gentics and linkage relationships of the C3 polymorphism: discovery of C3‐Se linkage and assignment of LES‐C3‐DM‐Se‐PEPD‐Lu synteny to chromosome 19 , 1983, Clinical genetics.