Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1

Human Molecular Genetics

Volumn 10, Issue 19, 2001, Pages 2143-2155

  Sergeant, Nicolas ^a   Sablonnière, Bernard ^a   Schraen Maschke, Suzanna ^a   Ghestem, Antoine ^a   Maurage, Claude Alain ^a,b   Wattez, Annick ^a   Vermersch, Patrick ^b   Delacourte, André ^a  

^a INSERM   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GUANINE; ISOPROTEIN; MESSENGER RNA; PROTEIN KINASE; TAU PROTEIN; THYMINE;

3' UNTRANSLATED REGION; ADULT; ARTICLE; BIOCHEMISTRY; BRAIN CORTEX; BRAIN REGION; CENTRAL NERVOUS SYSTEM; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEMENTIA; EXON; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; MALE; MATURATION; MICROTUBULE; MYOTONIC DYSTROPHY; NERVE CELL; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; REGULATORY MECHANISM; TRINUCLEOTIDE REPEAT;

EID: 0034782506     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.19.2143     Document Type: Article

References (82)

1. Cloning of the essential myotonic dystrophy region and mapping of the putative defect
2. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
3. Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19
4. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
5. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
6. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
7. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
8. Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings
9. Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats
10. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
11. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
12. Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype
13. Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy
14. Development of Alzheimer neurofibrillary changes in two autopsy cases of myotonic dystrophy
15. Microtubule-associated protein tau, heparan sulphate and α-synuclein in several neurodegenerative diseases with dementia
16. Specific tau variants in the brains of patients with myotonic dystrophy
17. Topography of Alzheimer's neurofibrillary change distribution in myotonic dystrophy
18. Paired helical filament in electron microscopy of Alzheimer's disease
19. Immunological detection of tau protein in neurofibrillary tangles of Alzheimer's disease
20. Alzheimer's disease: Tau proteins, the promoting factors of microtubule assembly, are major components of paired helical filaments
21. Biochemical characterization of an immune serum which specifically marks neurons in neurofibrillary degeneration in Alzheimer's disease
22. Microtubule-associated protein tau. A component of Alzheimer paired helical filaments
23. Microtubule-associated protein tau is a major antigenic component of paired helical filaments in Alzheimer disease
24. Pathological proteins Tau 64 and 69 are specifically expressed in the somatodendritic domain of the degenerating cortical neurons during Alzheimer's disease. Demonstration with a panel of antibodies against Tau proteins
25. A68: A major subunit of paired helical filaments and derivatized forms of normal Tau
26. Purification of tau, a microtubule-associated protein that induces assembly of microtubules from purified tubulin
27. Physical and chemical properties of purified tau factor and the role of tau in microtubule assembly
28. Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease
29. Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: Differential expression of tau protein mRNAs in human brain
30. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
31. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau
32. Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia
33. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
34. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
35. Tau protein isoforms, phosphorylation and role in neurodegenerative disorders
36. Tau pathology: A marker of neurodegenerative disorders
37. Two-dimensional characterization of paired helical filament-tau from Alzheimer's disease: Demonstration of an additional 74-kDa component and age-related biochemical modifications
38. Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: Tau pathologies with exclusively 'exon 10' isoforms
39. Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their tau isoform distribution and phosphorylation
40. Different distribution of phosphorylated tau protein isoforms in Alzheimer's and Pick's diseases
41. Normal and pathological Tau proteins as factors for microtubule assembly
42. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
43. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
44. Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits
45. Detection of phosphorylated Ser262 in fetal tau, adult tau, and paired helical filament tau
46. Isoelectric point differentiates PHF-tau from biopsy-derived human brain tau proteins
47. Analysis of the molecular heterogeneity of the microtubule-associated protein tau by two-dimensional electrophoresis and RT-PCR
48. The biochemical pathway of neurofibrillary degeneration in aging and Alzheimer's disease
49. Specific pathological Tau protein variants characterize Pick's disease
50. Biochemical mapping of neurofibrillary degeneration in a case of progressive supranuclear palsy: Evidence for general cortical involvement
51. Phosphorylated serine422 on tau proteins is a pathological epitope found in several diseases with neurofibrillary degeneration
52. Pick's disease: Hyperphosphorylated tau protein segregates to the somatoaxonal compartment
53. Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion
54. 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
55. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
56. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
57. Myotonic dystrophy: Tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
58. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
59. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
60. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
61. Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios
62. Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties
63. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
64. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1
65. Relative exon affinities and suboptimal splice site signals lead to non-equivalence of two cassette exons
66. The STAR/GSG family protein rSLM-2 regulates the selection of alternative splice sites
67. Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy
68. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
69. Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
70. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
71. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
72. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
73. Maturation of the head of bacteriophage T4. II. Head-related, aberrant tau-particles
74. AD2, a phosphorylation-dependent monoclonal antibody directed against tau proteins found in Alzheimer's disease
75. Monoclonal antibodies with selective specificity for Alzheimer Tau are directed against phosphatase-sensitive epitopes
76. Expression of separate isoforms of human tau protein: Correlation with the tau pattern in brain and effects on tubulin polymerization
77. Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR
78. Structure and novel exons of the human tau gene
79. Complete sequence of 3′-untranslated region of Tau from rat central nervous system. Implications for mRNA heterogeneity
80. Molecular diversity at the carboxyl terminus of human and rat tau
81. Developmentally regulated expression of specific tau sequences