Kennedy's disease: A triplet repeat disorder or a motor neuron disease?

Brain Research Bulletin

Volumn 56, Issue 3-4, 2001, Pages 209-214

  Gallo, Jean Marc ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Amyotrophic lateral sclerosis; Androgen receptor; Inclusions; Neurofilaments; Polyglutamine; Superoxide dismutase; Tubulin

Indexed keywords

ANDROGEN RECEPTOR; CHAPERONE; COPPER ZINC SUPEROXIDE DISMUTASE; FREE RADICAL; MUTANT PROTEIN; NUCLEAR PROTEIN; POLYGLUTAMINE; PROTEASOME; UBIQUITIN;

AMYOTROPHIC LATERAL SCLEROSIS; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CONFERENCE PAPER; DEGENERATIVE DISEASE; GENETIC DISORDER; HUMAN; KENNEDY DISEASE; NERVE FIBER TRANSPORT; NEUROFILAMENT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SPINAL GANGLION; TRINUCLEOTIDE REPEAT;

AMYOTROPHIC LATERAL SCLEROSIS; HUMANS; MUSCULAR ATROPHY, SPINAL; NEUROFILAMENT PROTEINS; PEPTIDES; RECEPTORS, ANDROGEN; SUPEROXIDE DISMUTASE; TUBULIN;

EID: 0035503911     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0361-9230(01)00575-5     Document Type: Conference Paper

References (74)

1. Spinobulbar muscular atrophy; Polyglutamine-expanded androgen receptor is proteolytically resistant in vitro and processed abnormally in transfected cells
2. Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice
3. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
4. Recent advances in amyotrophic lateral sclerosis
5. Late onset death of motor neurons in mice overexpressing wild-type peripherin
6. Cytoplasmic localization and the choice of ligand determine aggregate formation by androgen receptor with amplified polyglutamine stretch
7. Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis
8. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containg inclusions
9. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1
10. Androgen-induced up-regulation of tubulin isoforms in neuroblastoma cells
11. Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
12. Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease
13. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis
14. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene; A mouse model of amyotrophic lateral sclerosis
15. Formation of neuronal inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
16. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
17. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
18. Inactivation of hdh in the brain and testis results in progressive neurodegeneration and sterility in mice
19. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS
20. Transgenic mice with increased Cu/Zn-superoxide dismutase activity; Animal model of dosage effects in Down syndrome
21. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
22. Expression of specific tubulin isotypes increases during regeneration of injured CNS neurons, but not after the application of brain-derived neurotrophic factor (BDNF)
23. Ubiquitous variations in nerves
24. Superoxide dismutase activity in lymphoblastoid cells from motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) patients
25. The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator
26. Formation of high molecular weight complexes of mutant Cu, Zn- superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis
27. Androgenic regulation of tubulin gene expression in axotomized hamster facial motoneurons
28. Cytoskeletal abnormalities in amyotrophic lateral sclerosis; Beneficial or detrimental effects?
29. Neurofilaments in health and disease
30. Pathological characterization of astrocytic hyaline inclusions in familial amyotrophic lateral sclerosis
31. Astrocytic hyaline inclusions contain advanced glycation endproducts in familial amyotrophic lateral sclerosis with superoxide dismutase 1 gene mutation; Immunohistochemical and immunoelectron microscopical analyses
32. n-expanded neuronopathies
33. Chaperones Hsp70 and Hsp40 suppress aggregate formation and apoptosis in cultured neuronal cells expressing truncated androgen receptor protein with expanded polyglutamine tract
34. Aggresomes, inclusion bodies and protein aggregation
35. Testosterone differentially regulates the regenerative properties of injured hamster facial motoneurons
36. Testosterone-induced acceleration of recovery from facial paralysis following crush axotomy of the facial nerve in male hamsters
37. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
38. Ubiquitin deposits in anterior horn cells in motor neurone disease
39. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
40. Nonneuronal nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy
41. A filamentous inclusion body within anterior horn neurones in motor neurone disease defined by immunocytochemical localisation of ubiquitin
42. CREB-binding protein sequestration by expanded polyglutamine
43. Up-regulation of androgen receptor immunoreactivity in the rat brain by androgenic-anabolic steroids
44. Proteasome inhibitors activate stress kinases and induce Hsp72. Diverse effects on apoptosis
45. Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy
46. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
47. Interference by huntingtin and atrophin-1 with CBP-mediated transcription leading to cellular toxicity
48. Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease
49. Microtubule dynamics in vitro are regulated by the tubulin isotype composition
50. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons
51. Caspase-1 and -3 are sequentially activated in motor neuron death in Cu, Zn superoxide dismutase-mediated familial amyotrophic lateral sclerosis
52. Glutamine repeats as polar zippers; Their possible role in inherited neurodegenerative diseases
53. Fast transport of neurofilament protein along microtubules in squid axoplasm
54. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury
55. Neurofilaments are transported rapidly but intermittently in axons; Implications for slow axonal transport
56. Androgen concentration in motor neurons of cranial nerves and spinal cord
57. Bidirectional translocation of neurofilaments along microtubules mediated in part by dynein/dynactin
58. Immunohistochemical study on superoxide dismutases in spinal cords from autopsied patients with amyotrophic lateral sclerosis
59. Presence of Cu/Zn superoxide dismutase (SOD) immunoreactivity in neuronal hyaline inclusions in spinal cords from mice carrying a transgene for Gly93Ala mutant human Cu/Zn SOD
60. Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement
61. Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract
62. Distribution of androgen and estrogen receptor mRNA-containing cells in the rat brain; An in situ hybridization study
63. X-linked recessive bulbospinal neuropathy. A clinicopathological study
64. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription
65. Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone
66. Identification of conserved isotype-defining variable region sequences for four vertebrate β tubulin polypeptide classes
67. Rapid movement of axonal neurofilaments interrupted by prolonged pauses
68. Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons
69. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease
70. Androgen receptor levels in cranial nerve nuclei and tongue muscles in rats
71. Effect of testosterone and 5α-dihydrotestosterone on regeneration of the hypoglossal nerve in rats
72. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
73. Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation