Pathology of CAG repeat diseases

Neuropathology

Volumn 20, Issue 4, 2000, Pages 319-325

  Yamada, Mitsunori ^a   Tsuji, Shoji ^a   Takahashi, Hitoshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

CAG repeat disease; Dentatorubral pallidoluysian atrophy; Huntington's disease; Machado Joseph disease; Neuronal intranuclear inclusion; Transcription factor

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; POLYGLUTAMINE; PREGNANCY SPECIFIC BETA1 GLYCOPROTEIN; TATA BINDING PROTEIN; TATA BINDING PROTEIN ASSOCIATED FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; BRAIN CORTEX; CAG REPEAT DISEASE; CELL NUCLEUS INCLUSION BODY; CONFERENCE PAPER; CONTROLLED STUDY; CYTOTOXICITY; DEGENERATIVE DISEASE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; GENETIC DISORDER; HUNTINGTON CHOREA; INFERIOR OLIVE; MACHADO JOSEPH DISEASE; MOUSE; NERVE CELL; NERVE CELL DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; RETICULAR FORMATION; SPINAL MUSCULAR ATROPHY; SUBSTANTIA NIGRA; THALAMUS;

ANIMALS; BRAIN; CELL NUCLEUS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INCLUSION BODIES; MICE; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; NEURONS; PEPTIDES; TRINUCLEOTIDE REPEATS;

EID: 0034491812     PISSN: 09196544     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1789.2000.00354.x     Document Type: Conference Paper

References (50)

1. When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
2. Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases
3. Trinucleotide repeats in neurogenetic disorders
4. The genetic defect causing Huntington's disease: Repeated in other contexts?
5. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
6. Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
7. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
8. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
9. Hereditary dentatorubral-pallidoluysian atrophy: Detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain
10. Suppression of aggregate formation and apoptosis by transglutaminase inhibitions in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
11. Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: Triple-labeling immunofluorescent study
12. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
13. Formation of intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
14. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila
15. Polyglutamine pathogenesis
16. Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
17. Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA
18. Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?
19. Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease
20. Machado-Joseph disease in three Scandinavian families
21. Characteristic magnetic resonance imaging findings in Machado-Joseph disease
22. Epidemiology and clinical aspects of Machado-Joseph disease
23. Machado-Joseph disease: Clinical, molecular, and metabolic characterization in Chinese kindreds
24. Machado-Joseph disease: Cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene
25. Positron emission tomography (PET) in Machado-Joseph disease
26. Hereditary dentatorubral-pallidoluysian atrophy: Ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons
27. Ubiquitinated filamentous inclusions in the DRPLA cerebellar dentate nucleus neurons contain expanded polyglutamine stretches
28. Abnormal dentatorubral-pallidoluysian atrophy (DRPLA) protein complex is pathologically ubiquitinated in DRPLA brains
29. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy
30. Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
31. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
32. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
33. II130, interfering with CREB-dependent transcription
34. Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells
35. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
36. Evidence for proteasome involvement in polyglutamine disease: Localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro
37. Structure and function in the nucleus
38. Structure, organization, and dynamics of promyelocytic leukemia protein nuclear bodies
39. PML induces a novel caspase-independent death process
40. PML is essential for multiple apoptotic pathways
41. Localization of nascent RNA and CREB binding protein with the PML-containing nuclear body
42. CNS changes in DRPLA with dementia and personality changes: CT, MR and SPECT findings
43. CT findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
44. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings
45. Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical, genetic, and neuroradiologic studies in a family
46. The brainstem region in hereditary dentatorubro-pallidoluysian atrophy
47. High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy
48. From neuronal inclusions to neurodegeneration: Neuropathological investigation of a transgenic mouse model of Huntington's disease
49. Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
50. Transgenic mice harboring a full-length human DRPLA gene with highly expanded CAG repeats exhibit severe disease phenotype