Genetic Neurodegenerative Diseases: The Human Illness and Transgenic Models (Q45296779)

11 December 2017

title

Genetic neurodegenerative diseases: the human illness and transgenic models (English)

1 reference

11 December 2017

Genetic Neurodegenerative Diseases: The Human Illness and Transgenic Models (English)

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

15 January 2025

author name string

D. L. Price

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9804539

15 January 2025

S. S. Sisodia

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9804539

15 January 2025

D. R. Borchelt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9804539

15 January 2025

publication date

1 November 1998

1 reference

11 December 2017

6 November 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9804539

https://www.science.org/doi/pdf/10.1126/science.282.5391.1079

15 January 2025

language of work or name

English

0 references

work available at URL

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

15 January 2025

1 reference

11 December 2017

volume

282

1 reference

11 December 2017

issue

5391

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11 December 2017

page(s)

1079-1083

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publication type of scholarly work

11 December 2017

review article

1 reference

Life and Death of Neurons in the Aging Brain

cites work

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1126/SCIENCE.278.5337.412

Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis

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4 November 2023

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Amyotrophic lateral sclerosis. Insights from genetics

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Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

15 January 2025

3

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

15 January 2025

4

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

15 January 2025

5

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild-type subunit function.

15 January 2025

6

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

15 January 2025

7

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

15 January 2025

8

1 reference

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Quantitative immunocytochemical analysis of the spinal cord in G86R superoxide dismutase transgenic mice: neurochemical correlates of selective vulnerability

15 January 2025

9

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

15 January 2025

12

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice.

15 January 2025

13

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

15 January 2025

14

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis

15 January 2025

15

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

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 superox

15 January 2025

16

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

ALS, SOD and peroxynitrite

15 January 2025

17

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis

15 January 2025

18

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The Copper Chelator d‐Penicillamine Delays Onset of Disease and Extends Survival in a Transgenic Mouse Model of Familial Amyotrophic Lateral Sclerosis

15 January 2025

19

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Bcl-2: Prolonging Life in a Transgenic Mouse Model of Familial Amyotrophic Lateral Sclerosis

15 January 2025

20

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https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Inhibition of ICE slows ALS in mice

15 January 2025

21

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Proximal axonal enlargement in motor neuron disease

15 January 2025

22

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis

15 January 2025

23

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Neuropathology of ALS: an overview

15 January 2025

25

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

15 January 2025

26

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease

15 January 2025

27

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein

15 January 2025

28

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Pathogenesis of two axonopathies does not require axonal neurofilaments.

15 January 2025

29

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

15 January 2025

30

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported

15 January 2025

31

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The aging brain. Limitations in our knowledge and future approaches

15 January 2025

32

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Neurodegenerative disorders with extensive tau pathology: a comparative study and review

15 January 2025

39

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

A68: a major subunit of paired helical filaments and derivatized forms of normal Tau.

15 January 2025

40

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms

15 January 2025

42

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans

15 January 2025

43

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their tau isoform distribution and phosphorylation.

15 January 2025

44

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein

15 January 2025

46

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease

15 January 2025

48

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor

15 January 2025

49

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Molecular cloning and characterization of a cDNA encoding the cerebrovascular and the neuritic plaque amyloid peptides

15 January 2025

50

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease

15 January 2025

51

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Cellular processing of beta-amyloid precursor protein and the genesis of amyloid beta-peptide

15 January 2025

52

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Evidence that beta-amyloid protein in Alzheimer's disease is not derived by normal processing

15 January 2025

53

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Beta-amyloid precursor protein cleavage by a membrane-bound protease

15 January 2025

54

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.

15 January 2025

55

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Structural Neurology: Are Seeds at the Root of Neuronal Degeneration?

15 January 2025

57

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Seeding "one-dimensional crystallization" of amyloid: a pathogenic mechanism in Alzheimer's disease and scrapie?

15 January 2025

58

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Cellular actions of beta-amyloid precursor protein and its soluble and fibrillogenic derivatives

15 January 2025

59

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Mechanisms of neuronal degeneration in Alzheimer's disease

15 January 2025

60

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Visualization of A beta 42(43) and A beta 40 in senile plaques with end-specific A beta monoclonals: evidence that an initially deposited species is A beta 42(43).

15 January 2025

61

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Purification, ultrastructure, and chemical analysis of Alzheimer disease amyloid plaque core protein

15 January 2025

62

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology

15 January 2025

63

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

15 January 2025

64

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue

15 January 2025

65

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues

15 January 2025

66

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Stable Association of Presenilin Derivatives and Absence of Presenilin Interactions with APP

15 January 2025

67

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Mutant genes in familial Alzheimer's disease and transgenic models

15 January 2025

68

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

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

15 January 2025

70

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

15 January 2025

72

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants

15 January 2025

73

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

15 January 2025

74

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene

15 January 2025

75

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

15 January 2025

77

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Amyloid, the presenilins and Alzheimer's disease

15 January 2025

78

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

15 January 2025

79

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

15 January 2025

80

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

15 January 2025

81

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

15 January 2025

82

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Deposition of beta/A4 immunoreactivity and neuronal pathology in transgenic mice expressing the carboxyl-terminal fragment of the Alzheimer amyloid precursor in the brain

15 January 2025

83

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Expression of APP in brains of transgenic mice containing the entire human APP gene

15 January 2025

85

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Transgenic mouse brain histopathology resembles early Alzheimer's disease

15 January 2025

86

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

15 January 2025

87

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The Alzheimer's A beta peptide induces neurodegeneration and apoptotic cell death in transgenic mice

15 January 2025

88

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

15 January 2025

90

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Altered metabolism of familial Alzheimer's disease-linked amyloid precursor protein variants in yeast artificial chromosome transgenic mice

15 January 2025

91

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Impaired learning and LTP in mice expressing the carboxy terminus of the Alzheimer amyloid precursor protein

15 January 2025

92

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein

15 January 2025

93

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Comparison of neurodegenerative pathology in transgenic mice overexpressing V717F beta-amyloid precursor protein and Alzheimer's disease

15 January 2025

94

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Correlative Memory Deficits, Abeta Elevation, and Amyloid Plaques in Transgenic Mice

15 January 2025

95

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes

15 January 2025

96

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins

15 January 2025

97

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Clinical and pathological correlates of apolipoprotein E ?4 in Alzheimer's disease

15 January 2025

99

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

15 January 2025

100

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition

15 January 2025

101

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features

15 January 2025

102

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Neurobiology of Huntington's disease

15 January 2025

103

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models.

15 January 2025

104

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

15 January 2025

105

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease

15 January 2025

106

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

15 January 2025

107

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

When more is less: pathogenesis of glutamine repeat neurodegenerative diseases

15 January 2025

108

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

15 January 2025

109

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

15 January 2025

110

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Machado-Joseph disease and SCA3: the genotype meets the phenotypes

15 January 2025

111

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

15 January 2025

112

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

15 January 2025

113

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

15 January 2025

114

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

15 January 2025

116

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length

15 January 2025

117

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

15 January 2025

118

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

15 January 2025

119

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis

15 January 2025

120

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Trinucleotide instability: a repeating theme in human inherited disorders

15 January 2025

121

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Intranuclear Neuronal Inclusions: A Common Pathogenic Mechanism for Glutamine-Repeat Neurodegenerative Diseases?

15 January 2025

122

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

15 January 2025

123

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila

15 January 2025

124

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.282.5391.1079

15 January 2025

Identifiers

1 reference

11 December 2017

1 reference