Genetic neurodegenerative diseases: the human illness and transgenic models.
暂无分享,去创建一个
D L Price | D. Borchelt | D. Price | S. Sisodia | D. Price | S S Sisodia | D R Borchelt
[1] C. Bieberich,et al. The Alzheimer's Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice , 1995, Nature Genetics.
[2] G. Glenner,et al. Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein , 1984 .
[3] Brian J Cummings,et al. Deposition of beta/A4 immunoreactivity and neuronal pathology in transgenic mice expressing the carboxyl-terminal fragment of the Alzheimer amyloid precursor in the brain. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[4] A. Delacourte,et al. Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their τ isoform distribution and phosphorylation , 1998, Annals of neurology.
[5] B Carragher,et al. Three-Dimensional Analysis of the Relationship Between Synaptic Pathology and Neuropil Threads in Alzheimer Disease , 1992, Journal of neuropathology and experimental neurology.
[6] D. Price,et al. Expression of Presenilin 1 and 2 (PS1 and PS2) in Human and Murine Tissues , 1996, The Journal of Neuroscience.
[7] L. Mucke,et al. Comparison of Neurodegenerative Pathology in Transgenic Mice Overexpressing V717F β-Amyloid Precursor Protein and Alzheimer’s Disease , 1996, The Journal of Neuroscience.
[8] D. Selkoe,et al. Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production , 1992, Nature.
[9] L Junck,et al. Machado-Joseph disease and SCA3 , 1996, Neurology.
[10] N. Cairns,et al. Tau proteins of alzheimer paired helical filaments: Abnormal phosphorylation of all six brain isoforms , 1992, Neuron.
[11] D. Borchelt,et al. Age-related CNS disorder and early death in transgenic FVB/N mice overexpressing Alzheimer amyloid precursor proteins , 1995, Neuron.
[12] M. Lerman,et al. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. , 1987, Science.
[13] D. Borchelt,et al. Endoproteolysis of Presenilin 1 and Accumulation of Processed Derivatives In Vivo , 1996, Neuron.
[14] M. Gurney,et al. Benefit of vitamin E, riluzole, and gababapentin in a transgenic model of familial amyotrophic lateral sclerosis , 1996, Annals of neurology.
[15] M. Beal,et al. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury , 1996, Nature Genetics.
[16] M. Mattson. Cellular actions of beta-amyloid precursor protein and its soluble and fibrillogenic derivatives. , 1997, Physiological reviews.
[17] P. Lansbury. Structural Neurology: Are Seeds at the Root of Neuronal Degeneration? , 1997, Neuron.
[18] J. Hardy,et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene , 1991, Nature.
[19] S. W. Davies,et al. Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice , 1996, Cell.
[20] J. Hardy,et al. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1 , 1996, Nature.
[21] D. Dickson,et al. Neurodegenerative disorders with extensive tau pathology: A comparative study and review , 1996, Annals of neurology.
[22] R. Katzman.,et al. The aging brain. Limitations in our knowledge and future approaches. , 1997, Archives of neurology.
[23] P. Greengard,et al. Expression of APP in brains of transgenic mice containing the entire human APP gene. , 1993, Biochemical and biophysical research communications.
[24] K. Fischbeck,et al. Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 , 1997, Neuron.
[25] D. Borchelt,et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria , 1995, Neuron.
[26] H. Zoghbi,et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures , 1997, Nature.
[27] T. Iwatsubo,et al. Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: Evidence that an initially deposited species is Aβ42(43) , 1994, Neuron.
[28] A. Sano,et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p , 1994, Nature Genetics.
[29] A D Roses,et al. Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[30] L. Mucke,et al. Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein , 1995, Nature.
[31] S. Younkin,et al. An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants. , 1994, Science.
[32] K. Fischbeck,et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy , 1991, Nature.
[33] S. Paul,et al. Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition , 1997, Nature Genetics.
[34] J. Julien,et al. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis , 1993, Cell.
[35] P. Wong,et al. Pathogenesis of two axonopathies does not require axonal neurofilaments , 1998, Nature.
[36] A. Peterson,et al. Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-β-galactosidase fusion protein , 1994, Neuron.
[37] P. Moran,et al. Age-related learning deficits in transgenic mice expressing the 751-amino acid isoform of human beta-amyloid precursor protein. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[38] L. Cork,et al. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease , 1993, Cell.
[39] C. Portera-Cailliau,et al. Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models , 1995, The Journal of neuroscience : the official journal of the Society for Neuroscience.
[40] R. Mahley,et al. Lipoproteins, neurobiology, and Alzheimer's disease: structure and function of apolipoprotein E , 1994 .
[41] J. Hardy,et al. Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes , 1998, Nature Medicine.
[42] D. Cleveland,et al. A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease , 1994, Neuron.
[43] R. Crowther,et al. Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans , 1996, Nature.
[44] P. Lansbury,et al. Seeding “one-dimensional crystallization” of amyloid: A pathogenic mechanism in Alzheimer's disease and scrapie? , 1993, Cell.
[45] A. Hofman,et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene , 1992, Nature Genetics.
[46] B. Yankner. Mechanisms of Neuronal Degeneration in Alzheimer's Disease , 1996, Neuron.
[47] R. Sherrington,et al. Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue , 1997, Neurobiology of Disease.
[48] S. M. Sumi,et al. Amyloid (Aβ) deposition in chromosome 1–linked Alzheimer's disease: The volga german families , 1997, Annals of neurology.
[49] Í. Lopes-Cendes,et al. The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features , 1997, Brain pathology.
[50] Junying Yuan,et al. Inhibition of ICE slows ALS in mice , 1997, Nature.
[51] J. Trojanowski,et al. A68: a major subunit of paired helical filaments and derivatized forms of normal Tau. , 1991, Science.
[52] Robert H. Brown,et al. Amyotrophic lateral sclerosis. Insights from genetics. , 1997, Archives of neurology.
[53] M. Pericak-Vance,et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. , 1993, Science.
[54] H. Zoghbi,et al. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1 , 1997, Nature.
[55] M. Gurney,et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. , 1994, Science.
[56] D. Bredesen,et al. Altered Reactivity of Superoxide Dismutase in Familial Amyotrophic Lateral Sclerosis , 1996, Science.
[57] Weiming Xia,et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice , 1997, Nature Medicine.
[58] D. Price,et al. Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superoxide dismutase 1 mutant. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[59] R. Martins,et al. Neuronal origin of a cerebral amyloid: neurofibrillary tangles of Alzheimer's disease contain the same protein as the amyloid of plaque cores and blood vessels. , 1985, The EMBO journal.
[60] L. Villa-komaroff,et al. Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease , 1988, Nature.
[61] John Hardy,et al. Amyloid, the presenilins and Alzheimer's disease , 1997, Trends in Neurosciences.
[62] M. Dubois‐Dauphin,et al. Bcl-2: prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis. , 1997, Science.
[63] K. Grzeschik,et al. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor , 1987, Nature.
[64] M. Gurney,et al. The Copper Chelator d‐Penicillamine Delays Onset of Disease and Extends Survival in a Transgenic Mouse Model of Familial Amyotrophic Lateral Sclerosis , 1997, The European journal of neuroscience.
[65] D. Kukuruga,et al. Purification, ultrastructure, and chemical analysis of Alzheimer disease amyloid plaque core protein. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[66] D. Borchelt,et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[67] M. Carson,et al. ALS, SOD and peroxynitrite , 1993, Nature.
[68] H. Wiśniewski,et al. Microtubule-associated protein tau. A component of Alzheimer paired helical filaments. , 1986, The Journal of biological chemistry.
[69] S. W. Davies,et al. Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length , 1998, Neurobiology of Disease.
[70] S. W. Davies,et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. , 1997, Science.
[71] Kenneth S. Kosik,et al. The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology , 1996, Nature Medicine.
[72] D. Selkoe,et al. Cellular processing of β-amyloid precursor protein and the genesis of amyloid β-peptide , 1993, Cell.
[73] Allan I. Levey,et al. Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo , 1996, Neuron.
[74] M. Pericak-Vance,et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease , 1991, Nature.
[75] H. Wiśniewski,et al. Molecular cloning and characterization of a cDNA encoding the cerebrovascular and the neuritic plaque amyloid peptides. , 1987, Proceedings of the National Academy of Sciences of the United States of America.
[76] H. Zoghbi,et al. The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis , 1997, Brain pathology.
[77] M. MacDonald,et al. Trinucleotide instability: a repeating theme in human inherited disorders. , 1996, Annual review of medicine.
[78] J. Morrison,et al. Life and death of neurons in the aging brain. , 1997, Science.
[79] S. Carpenter. Proximal axonal enlargement in motor neuron disease , 1968, Neurology.
[80] M. Gurney,et al. Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. , 1994, The American journal of pathology.
[81] D. Borchelt,et al. Axonal Transport of Mutant Superoxide Dismutase 1 and Focal Axonal Abnormalities in the Proximal Axons of Transgenic Mice , 1998, Neurobiology of Disease.
[82] S. Sisodia. Beta-amyloid precursor protein cleavage by a membrane-bound protease. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[83] D. Borchelt,et al. Accelerated Amyloid Deposition in the Brains of Transgenic Mice Coexpressing Mutant Presenilin 1 and Amyloid Precursor Proteins , 1997, Neuron.
[84] Harry T Orr,et al. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat , 1995, Cell.
[85] J. Morrison,et al. Quantitative immunocytochemical analysis of the spinal cord in G86R superoxide dismutase transgenic mice: Neurochemical correlates of selective vulnerability , 1996, The Journal of comparative neurology.
[86] A D Roses,et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease. , 1998, The New England journal of medicine.
[87] D. Price,et al. Altered metabolism of familial Alzheimer's disease-linked amyloid precursor protein variants in yeast artificial chromosome transgenic mice. , 1997, Human molecular genetics.
[88] A Hirano,et al. Neuropathology of ALS , 1996, Neurology.
[89] C A Ross,et al. Intranuclear Neuronal Inclusions: A Common Pathogenic Mechanism for Glutamine-Repeat Neurodegenerative Diseases? , 1997, Neuron.
[90] D. Borchelt,et al. Superoxide Dismutase 1 Subunits with Mutations Linked to Familial Amyotrophic Lateral Sclerosis Do Not Affect Wild-type Subunit Function (*) , 1995, The Journal of Biological Chemistry.
[91] Nancy M Bonini,et al. Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila , 1998, Cell.
[92] B. Ghetti,et al. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. , 1991, Science.
[93] S. Younkin,et al. Correlative Memory Deficits, Aβ Elevation, and Amyloid Plaques in Transgenic Mice , 1996, Science.
[94] J. Haines,et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.
[95] C. L. Harris,et al. Stable Association of Presenilin Derivatives and Absence of Presenilin Interactions with APP , 1998, Neurobiology of Disease.
[96] M. Shapiro,et al. Impaired learning and LTP in mice expressing the carboxy terminus of the Alzheimer amyloid precursor protein , 1997, Nature.
[97] C A Ross,et al. When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases , 1995, Neuron.
[98] Huda Y. Zoghbi,et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 , 1993, Nature Genetics.
[99] D. Price,et al. Evidence that beta-amyloid protein in Alzheimer's disease is not derived by normal processing. , 1990, Science.
[100] B T Hyman,et al. Clinical and pathological correlates of apolipoprotein E ε4 in Alzheimer's disease , 1996, Annals of neurology.
[101] Brian P. Brooks,et al. Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease , 1995, Trends in Neurosciences.
[102] M. Folstein,et al. Clinical diagnosis of Alzheimer's disease , 1984, Neurology.
[103] M. Albert,et al. Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported. , 1989, JAMA.
[104] C. Ross,et al. Neurobiology of Huntington's Disease , 1996, Neurobiology of Disease.
[105] D. Holtzman,et al. Transgenic mouse brain histopathology resembles early Alzheimer's disease , 1994, Annals of neurology.
[106] D. Price,et al. Mutant genes in familial Alzheimer's disease and transgenic models. , 1998, Annual review of neuroscience.
[107] J. Julien,et al. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis , 1995, Nature.
[108] Osamu Onodera,et al. Dentatorubral‐pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat , 1995, Annals of neurology.