Alzheimer's disease: etiology, neuropathology and pathogenesis
O Sheppard, M Coleman - Exon Publications, 2020 - exonpublications.com
Alzheimer's disease is the most common form of dementia and the most common
neurodegenerative disease. It manifests as a decline in short-term memory and cognition …
neurodegenerative disease. It manifests as a decline in short-term memory and cognition …
[HTML][HTML] Genetics, functions, and clinical impact of presenilin-1 (PSEN1) gene
Presenilin-1 (PSEN1) has been verified as an important causative factor for early onset
Alzheimer's disease (EOAD). PSEN1 is a part of γ-secretase, and in addition to amyloid …
Alzheimer's disease (EOAD). PSEN1 is a part of γ-secretase, and in addition to amyloid …
[HTML][HTML] APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2
(PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD …
(PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD …
Modeling familial Alzheimer's disease with induced pluripotent stem cells
T Yagi, D Ito, Y Okada, W Akamatsu… - Human molecular …, 2011 - academic.oup.com
Alzheimer's disease (AD) is the most common form of age-related dementia, characterized
by progressive memory loss and cognitive disturbance. Mutations of presenilin 1 (PS1) and …
by progressive memory loss and cognitive disturbance. Mutations of presenilin 1 (PS1) and …
[HTML][HTML] Aggresomes: a cellular response to misfolded proteins
JA Johnston, CL Ward, RR Kopito - The Journal of cell biology, 1998 - ncbi.nlm.nih.gov
Intracellular deposition of misfolded protein aggregates into ubiquitin-rich cytoplasmic
inclusions is linked to the pathogenesis of many diseases. Why these aggregates form …
inclusions is linked to the pathogenesis of many diseases. Why these aggregates form …
[HTML][HTML] Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum
D Campion, C Dumanchin, D Hannequin… - The American Journal of …, 1999 - cell.com
To determine the prevalence of early-onset Alzheimer disease (EOAD) and of autosomal
dominant forms of EOAD (ADEOAD), we performed a population-based study in the city of …
dominant forms of EOAD (ADEOAD), we performed a population-based study in the city of …
Pivotal role of glycogen synthase kinase-3: a therapeutic target for Alzheimer's disease
Neurodegenerative diseases are among the most challenging diseases with poorly known
mechanism of cause and paucity of complete cure. Out of all the neurodegenerative …
mechanism of cause and paucity of complete cure. Out of all the neurodegenerative …
[HTML][HTML] The genetic epidemiology of neurodegenerative disease
Gene defects play a major role in the pathogenesis of degenerative disorders of the nervous
system. In fact, it has been the very knowledge gained from genetic studies that has allowed …
system. In fact, it has been the very knowledge gained from genetic studies that has allowed …
[HTML][HTML] Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
C Cruchaga, S Chakraverty, K Mayo, FLM Vallania… - PloS one, 2012 - journals.plos.org
Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked
to familial early onset forms of dementia. Mutation screening in these genes has been …
to familial early onset forms of dementia. Mutation screening in these genes has been …
[HTML][HTML] Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of …
JS Goldman, SE Hahn, JW Catania… - Genetics in …, 2011 - Elsevier
Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects
all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased …
all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased …