Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis

Brain Research Bulletin

Volumn 56, Issue 3-4, 2001, Pages 191-201

  Galvão, Rui ^a   Mendes Soares, Luís ^a   Câmara, Joana ^a   Jaco, Isabel ^a   Carmo Fonseca, Maria ^a  

^a INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

Author keywords

Polyglutamine diseases; RNA gain of function; RNA binding proteins; Trinucleotide repeat diseases

Indexed keywords

MUTANT PROTEIN; POLYGLUTAMINE; RNA BINDING PROTEIN;

ALLELE; CHROMATIN STRUCTURE; CONFERENCE PAPER; DEGENERATIVE DISEASE; HUMAN; MYOTONIC DYSTROPHY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; PROTEIN STRUCTURE; RNA STRUCTURE; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

AMINO ACID SEQUENCE; HUMANS; MOLECULAR SEQUENCE DATA; MYOTONIC DYSTROPHY; NUCLEIC ACID CONFORMATION; PEPTIDES; POLY(A)-BINDING PROTEINS; RNA; RNA-BINDING PROTEINS; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0035503902     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0361-9230(01)00651-7     Document Type: Conference Paper

References (119)

1. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model [published erratum appears in Hum Mol Genet 1999 8:2573]
2. Reduction in enkephalin and substance P messenger RNA in the striatum of early grade Huntington's disease; A detailed cellular in situ hybridization study
3. Structural basis for triplet repeat disorders; A computational analysis
4. Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2
5. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
6. Sequence directed flexibility of DNA and the role of cross-strand hydrogen bonds
7. Assembly of a processive messenger RNA polyadenylation complex
8. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy [published erratum appears in Nat Genet 1998; 19:404]
9. Molecular basis of myotonic dystrophy; Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member [published erratum appears in Cell 1992;69:385]
10. SCA1 transgenic mice; A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
11. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
12. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
13. CTG repeats associated with human genetic disease are inherently flexible
14. Hairpin induced slippage and hyper-methylation of the fragile X DNA triplets
15. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations
16. Protein kinases that phosphorylate eIF2 and eIF2B, and their role in eukaryotic cell translational control
17. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
18. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
19. Fourteen and counting; Unraveling trinucleotide repeat diseases
20. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
21. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
22. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
23. An algorithm for protein secondary structure prediction based on class prediction
24. Identification of genes that modify ataxin-1-induced neurodegeneration
25. Incorporation of non-local interactions in protein secondary structure prediction from the amino acid sequence
26. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
27. Variation of the CGG repeat at the fragile X site results in genetic instability; Resolution of the Sherman paradox
28. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
29. GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases
30. GOR method for predicting protein secondary structure from amino acid sequence
31. Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins
32. SOPM; A self-optimized method for protein secondary structure prediction
33. SOPMA; Significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments
34. Further developments of protein secondary structure prediction using information theory. New parameters and consideration of residue pairs
35. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
36. Human genetic diseases due to codon reiteration; Relationship to an evolutionary mechanism
37. Mechanism of muscle wasting in myotonic dystrophy
38. Improved performance in protein secondary structure prediction by inhomogeneous score combination
39. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
40. Postoperative complications in myotonic dystrophy
41. Polyglutamine-induced ion channels; A possible mechanism for the neurotoxicity of Huntington and other CAG repeat diseases
42. Myotonic dystrophy; Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
43. Spinocerebellar ataxia type 7 (SCA7); A neurodegenerative disorder with neuronal intranuclear inclusions
44. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
45. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
46. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
47. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
48. Domains of the human androgen receptor involved in steroid binding, transcriptional activation, and subcellular localization
49. Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells
50. Biology of the fragile X mental retardation protein, an RNA-binding protein
51. Identification and application of the concepts important for accurate and reliable protein secondary structure prediction
52. Ataxin-1 nuclear localization and aggregation; Role in polyglutamine-induced disease in SCA1 transgenic mice
53. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
54. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene; A new polyglutamine disease?
55. Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene
56. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing
57. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
58. Exploring the limits of nearest neighbour secondary structure prediction
59. Cellular defects and altered gene expression in PC12 cells stably expressing mutant huntingtin
60. Triplet repeat expansion in neuromuscular disease
61. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
62. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy
63. Myotonic dystrophy mutation; An unstable CTG repeat in the 3′ untranslated region of the gene
64. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
65. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
66. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates
67. Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure
68. Interactions between viruses and the cellular machinery for protein synthesis
69. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
70. CAG trinucleotide RNA repeats interact with RNA-binding proteins
71. Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
72. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
73. Poly-L-glutamine forms cation channels; Relevance to the pathogenesis of the polyglutamine diseases
74. Triplet repeats form secondary structures that escape DNA repair in yeast
75. RNA metabolism in myotonic dystrophy; Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance
76. SCA8 CTG repeat; En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
77. Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease
78. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse
79. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
80. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
81. Glutamine repeats as polar zippers; Their possible role in inherited neurodegenerative diseases
82. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
83. Genetic mapping of a second myotonic dystrophy locus
84. Disassembly of nuclear inclusions in the dividing cell-A novel insight into neurodegeneration
85. Linkage of proximal myotonic myopathy to chromosome 3q
86. Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiae
87. Prediction of protein secondary structure at better than 70% accuracy
88. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
89. Caspase-8 is required for cell death induced by expanded polyglutamine repeats
90. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
91. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
92. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
93. RNA-binding proteins as regulators of gene expression
94. Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats
95. Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone
96. Human Tra2 proteins are sequence-specific activators of pre-mRNA splicing
97. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
98. Deconstructing myotonic dystrophy
99. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
100. Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
101. Myotonic dystrophy; The role of RNA CUG triplet repeats
102. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
103. Myotonic dystrophy; The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios
104. Heterogeneous intracellular localization and expression of ataxin-3
105. DNA repeat expansions and human disease
106. A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation [published erratum appears in Cell 1991; 67:639]
107. Poly(A) tail length control is caused by termination of processive synthesis
108. Myotonic dystrophy; Evidence for a possible dominant-negative RNA mutation
109. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
110. Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
111. PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain
112. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival
113. Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract
114. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease
115. Apoptosis in the nervous system
116. Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB
117. Glutamine repeats and neurodegeneration