title: Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients.
abstract: The cerebral cortex of Alzheimer's and Down syndrome patients is characterized by the presence of protein deposits in neurofibrillary tangles, neuritic plaques, and neuropil threads. These structures were shown to contain forms of beta amyloid precursor protein and ubiquitin-B that are aberrant (+1 proteins) in the carboxyl terminus. The +1 proteins were not found in young control patients, whereas the presence of ubiquitin-B+1 in elderly control patients may indicate early stages of neurodegeneration. The two species of +1 proteins displayed cellular colocalization, suggesting a common origin, operating at the transcriptional level or by posttranscriptional editing of RNA. This type of transcript mutation is likely an important factor in the widely occurring nonfamilial early- and late-onset forms of Alzheimer's disease.
authors.affiliation: Graduate School for Neurosciences Amsterdam, Netherlands Institute for Brain Research, 1105 AZ Amsterdam, The Netherlands. f.van.leeuwen@nih.knaw.nl
authors.forename: F W
authors.initials: FW
authors.lastname: van Leeuwen
authors.forename: D P
authors.initials: DP
authors.lastname: de Kleijn
authors.forename: H H
authors.initials: HH
authors.lastname: van den Hurk
authors.forename: A
authors.initials: A
authors.lastname: Neubauer
authors.forename: M A
authors.initials: MA
authors.lastname: Sonnemans
authors.forename: J A
authors.initials: JA
authors.lastname: Sluijs
authors.forename: S
authors.initials: S
authors.lastname: Köycü
authors.forename: R D
authors.initials: RD
authors.lastname: Ramdjielal
authors.forename: A
authors.initials: A
authors.lastname: Salehi
authors.forename: G J
authors.initials: GJ
authors.lastname: Martens
authors.forename: F G
authors.initials: FG
authors.lastname: Grosveld
authors.forename: J
authors.initials: J
authors.lastname: Peter
authors.forename: H
authors.initials: H
authors.lastname: Burbach
authors.forename: E M
authors.initials: EM
authors.lastname: Hol
mesh_terms: D000368:Aged; D000375:Aging / Q000235:genetics; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D001923:Brain Chemistry; D002540:Cerebral Cortex / Q000737:chemistry / Q000473:pathology; D003001:Cloning, Molecular; D004314:Down Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D006624:Hippocampus / Q000737:chemistry / Q000473:pathology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016501:Neurites / Q000737:chemistry; D016874:Neurofibrillary Tangles / Q000737:chemistry; D019581:Neuropil / Q000737:chemistry; D016133:Polymerase Chain Reaction; D017393:RNA Editing; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D014158:Transcription, Genetic; D014452:Ubiquitins / Q000032:analysis / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D016564:Amyloid beta-Protein Precursor; D014452:Ubiquitins