No post-genetics era in human disease research

Nature Reviews Genetics

Volumn 3, Issue 1, 2002, Pages 72-79

  Gusella, James ^a   MacDonald, Marcy ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL RESEARCH; GENETIC MODEL; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUNTINGTON CHOREA; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

ANIMALS; DISEASE MODELS, ANIMAL; GENETIC DISEASES, INBORN; GENETICS, MEDICAL; GENOTYPE; HUMANS; PHENOTYPE; RESEARCH;

EID: 0036250460     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg706     Document Type: Review

References (58)

1. Huntington's disease. Pathogenesis and management
2. Huntington disease
3. Neuropathological classification of Huntington's disease
4. Colitis in transgenic and knockout animals as models of human inflammatory bowel disease
5. An animal model for Huntington's disease
6. Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?
7. Replicating Huntington's disease phenotype in experimental animals
8. The current state of research with peripheral tissues in Huntington disease
9. Channelopathies: Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
10. The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor
11. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
12. Transgenic mouse models of Alzheimer's disease
13. The Alzheimer's Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice
14. Accumulation of murine amyloid β42 in a gene-dosage-dependent manner in PS1 'knock-in' mice
15. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
16. Presenilin-1 P264L knock-in mutation: Differential effects on Aβ production, amyloid deposition, and neuronal vulnerability
17. Early phenotypic changes in transgenic mice that overexpress different mutants of amyloid precursor protein in brain
18. In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease
19. Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture
20. Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment
21. Cellular defects and altered gene expression in PC 12 cells stably expressing mutant huntingtin
22. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
23. A cellular model that recapitulates major pathogenic steps of Huntington's disease
24. The influence of huntingtin protein size on nuclear localization and cellular toxicity
25. Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons
26. Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron
27. Mutant huntingtin expression in clonal striatal cells: Dissociation of inclusion formation and neuronal survival by caspase inhibition
28. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
29. Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
30. Nonmuscle myosin heavy chain ila mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-hegglin anomaly and fechtner, sebastian, epstein, and alport-like syndromes
31. Genotype-phenotype comparison of the Swiss malignant hyperthermia population
32. A molecular approach to dominance in hypophosphatasia
33. Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations
34. Defects in neurofibromatosis 2 protein function can arise at multiple levels
35. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
36. Formation of polyglutamine inclusions in non-CNS tissue
37. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
38. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
39. Amyloid formation by mutant huntingtin: Threshold, progressivity and recruitment of normal polyglutamine proteins
40. Self-assembiy of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: Implications for Huntington's disease pathology
41. A molecular investigation of true dominance in Huntington's disease
42. Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: Implications for Huntington's disease therapy
43. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
44. A low expressor line of transgenic mice carrying a mutant human Cu,Zn superoxide dismutase (SOD1) gene develops pathological changes that most closely resemble those in human amyotrophic lateral sclerosis
45. Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an α1(l) G 349C substitution. Variability in phenotype in BrtllV mice
46. Atm knock-in mice harboring an in-frame deletion corresponding to the human ATM 7636del9 common mutation exhibit a variant phenotype
47. Force and stiffness of old dystrophic (mdx) mouse skeletal muscles
48. Conditional biallelic Nf 2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2
49. Huntingtin aggregate-associated axonal degeneration is an early pathological event in Huntington's disease mice
50. Neurological abnormalities in a knock-in mouse model of Huntington's disease
51. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice
52. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity
53. A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice
54. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca 1 locus
55. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
56. Genotypes at the GluR 6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
57. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-ortem brains
58. Trinucleotide repeat length and progression of illness in Huntington's disease