Familial aggregation of dyslexia phenotypes

WH Raskind, L Hsu, VW Berninger, JB Thomson… - Behavior Genetics, 2000 - Springer
There is evidence for genetic contributions to reading disability, but the phenotypic
heterogeneity associated with the clinical diagnosis may make identification of the …

The serotonin transporter in Alzheimer's and Parkinson's disease

R Mössner, A Schmitt, Y Syagailo, M Gerlach… - Advances in Research …, 2000 - Springer
The etiology of late-onset Alzheimer's disease (AD) and idiopathic Parkinson's disease (PD)
is not known. In both disorders there is an extensive degeneration of serotonergic neurons …

Separation of presenilin function in amyloid β-peptide generation and endoproteolysis of Notch

L Kulic, J Walter, G Multhaup… - Proceedings of the …, 2000 - National Acad Sciences
Most of the genetically inherited Alzheimer's disease cases are caused by mutations in the
presenilin genes, PS1 and PS2. PS mutations result in the enhanced production of the …

[HTML][HTML] Regulation of transcription of the human presenilin-1 gene by ets transcription factors and the p53 protooncogene

M Pastorcic, HK Das - Journal of Biological Chemistry, 2000 - ASBMB
The expression of the human presenilin-1 cellular gene is suppressed by the p53
protooncogene. The rapid kinetic of the down-regulation has suggested that it may result …

Overexpression of glutathione peroxidase increases the resistance of neuronal cells to Aβ‐mediated neurotoxicity

M Barkats, S Millecamps, P Abrioux… - Journal of …, 2000 - Wiley Online Library
Senile plaques are neuropathological manifestations in Alzheimer's disease (AD) and are
composed mainly of extracellular deposits of amyloid β‐peptide (Aβ). Various data suggest …

A unifying hypothesis of Alzheimer's disease. III. Risk factors

K Heininger - Human Psychopharmacology: Clinical and …, 2000 - Wiley Online Library
Normal ageing and Alzheimer's disease (AD) have many features in common and, in many
respects, both conditions only differ by quantitative criteria. A variety of genetic, medical and …

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu …

M Hiltunen, S Helisalmi, A Mannermaa… - European Journal of …, 2000 - nature.com
Mutations in the presenilin-1 (PS-1) gene have been shown to cause early onset
Alzheimer's disease (EOAD) in an autosomal dominant manner. We have identified a novel …

Isolation and characterization of novel presenilin binding protein

A Kashiwa, H Yoshida, S Lee, T Paladino… - Journal of …, 2000 - Wiley Online Library
Approximately 50% of familial Alzheimer's disease (AD) cases are linked to the presenilin
(PS) gene. This suggests that an altered function of mutated PSs accounts for a fundamental …

Closing in on the amyloid cascade: recent insights into the cell biology of Alzheimer's disease

JT Huse, RW Doms - Molecular neurobiology, 2000 - Springer
Accumulation of the amyloid-β (Aβ) peptide in the central nervous system (CNS) is
considered by many to be the crucial pathological insult that ultimately leads to the …

Variant Alzheimer's disease with spastic paraparesis: clinical characterization

A Verkkoniemi, M Somer, JO Rinne, L Myllykangas… - Neurology, 2000 - AAN Enterprises
Objective: To present the clinical, neuroimaging, and electrophysiologic characteristics of a
variant AD phenotype. Background: The authors have identified a large Finnish kindred with …