title: Inherited neurodegenerative diseases and transgenic models.
abstract: In recent years, the identification of mutations in specific genes in several inherited neurodegenerative disorders, combined with advances in the field of transgenic methods, has provided neuroscientists and neuropathologists with information and strategies to develop transgenic (Tg) models to study human diseases. These approaches have proved to be extraordinarily useful in modeling familial forms of amyotrophic lateral sclerosis (FALS) and Alzheimer's disease (FAD) and the spectrum of triplet-repeat disorders. Investigations of these models have begun to provide new insights into the roles of disease-specific mutant proteins and the pathogenic mechanisms of disease as well as opportunities to test therapeutic interventions.
authors.affiliation: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA. ADRC@welchlink.welch.jhu.edu
authors.forename: D L
authors.initials: DL
authors.lastname: Price
authors.forename: M W
authors.initials: MW
authors.lastname: Becher
authors.forename: P C
authors.initials: PC
authors.lastname: Wong
authors.forename: D R
authors.initials: DR
authors.lastname: Borchelt
authors.forename: M K
authors.initials: MK
authors.lastname: Lee
authors.forename: S S
authors.initials: SS
authors.lastname: Sisodia
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D016229:Amyloid beta-Peptides / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D000818:Animals; D000067696:Ataxin-1; D000067528:Ataxins; D001921:Brain / Q000473:pathology*; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics; D018911:Trinucleotide Repeats
chemical_list: C000593749:ATXN1 protein, human; D016229:Amyloid beta-Peptides; D000067696:Ataxin-1; D000067528:Ataxins; C000593750:Atxn1 protein, mouse; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D013482:Superoxide Dismutase