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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
42
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pubmed:dateCreated |
2001-11-6
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pubmed:abstractText |
A very small percentage (less than 5%) of all cases of Alzheimer's disease are autosomal dominant inherited and caused by a mutation in the presenilin protein (PS). The mutations are found on chromosome 14 (PS1) and chromosome 1 (PS2). Although the exact function of presenilin is still unknown, it seems to function as gamma-secretase or as a cofactor for it. This upsets the metabolic balance around the beta-amyloid precursor protein, which leads to the formation of senile amyloid plaques.
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pubmed:commentsCorrections |
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pubmed:language |
dut
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0028-2162
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:day |
20
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pubmed:volume |
145
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2027-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11695101-Alzheimer Disease,
pubmed-meshheading:11695101-Amyloid beta-Protein Precursor,
pubmed-meshheading:11695101-Chromosomes, Human, Pair 1,
pubmed-meshheading:11695101-Chromosomes, Human, Pair 14,
pubmed-meshheading:11695101-Humans,
pubmed-meshheading:11695101-Membrane Proteins,
pubmed-meshheading:11695101-Mutation,
pubmed-meshheading:11695101-Phenotype,
pubmed-meshheading:11695101-Presenilin-1,
pubmed-meshheading:11695101-Presenilin-2
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|
pubmed:year |
2001
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|
pubmed:articleTitle |
[From gene to disease; presenilins and Alzheimer disease].
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|
pubmed:affiliation |
Leids Universitair Medisch Centrum, afd. Neurologie, Postbus 9600, 2300 RC Leiden. r.a.c.roos.neurology@lumc.nl
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pubmed:publicationType |
Journal Article,
English Abstract,
Review
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