Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
|
1678058 |
1991 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
|
1671712 |
1991 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Following reports of mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene in early-onset familial Alzheimer's disease, we screened exon 17 for new mutations in presenile dementia.
|
1307241 |
1992 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We now report, a novel base mutation in the same exon of the APP gene which co-segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy.
|
1303239 |
1992 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Vitamin E protects nerve cells from amyloid beta protein toxicity.
|
1497677 |
1992 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have used the powerful technique of denaturing gradient gel electrophoresis to screen for mutations in exons 7, 16 and 17 of the APP gene in a cohort of 105 patients with presenile dementia of the Alzheimer type and 71 patients with autopsy-confirmed senile Alzheimer's disease.
|
8321254 |
1993 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The progressive deposition of the beta-amyloid peptide in the brain and its microvasculature is an invariant feature of Alzheimer's disease that appears to precede the onset of dementia by many years.
|
7504355 |
1993 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Since the report of a double mutation at codons 670 and 671 of the amyloid precursor protein (APP) gene identified in two Swedish families with clinically diagnosed Alzheimer's disease (AD), a carrier with dementia has died.
|
8028788 |
1994 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Deposition of beta-amyloid peptide in the brain is an early event in Alzheimer's disease, the most common cause of dementia.
|
8140621 |
1994 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, one patient with a mutation in the APP gene did harbour a novel mtDNA mutation (G to C at position 5705 in the tRNAAsn gene) that might have contributed to the very early onset of dementia in this individual.
|
9425253 |
1997 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis, Dutch type, caused by a mutation at codon 693 of the amyloid beta precursor protein gene, is characterized by amyloid beta deposition resulting in recurrent strokes and dementia.
|
9225691 |
1997 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
AMY plaques are consistently present in familial AD due to presenilin-1 (PS-1), PS-2, and amyloid precursor protein mutations, and they can begin to accumulate before the emergence of dementia.
|
10636133 |
2000 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The dementia in patients with the APP692 mutation was compatible with Alzheimer's disease both clinically and neuropathologically.
|
11004129 |
2000 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
We suggest instead that APP normally functions in the brain as a cell surface signaling molecule, and that a disruption of this normal function of APP is at least one cause of the neurodegeneration and consequent dementia in AD.
|
11119687 |
2000 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
We will focus on the regulation of beta-APP cleavage through diverse signal transduction mechanisms and discuss possible points of therapeutic intercession in what has been postulated to be a seminal molecular step in the cascade of events terminating in the onset of dementia, loss of neurons, and eventual death from Alzheimer's disease.
|
10702374 |
2000 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dementia beginning in the sixth or seventh decade of life.
|
11409420 |
2001 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
A significant component of memory loss in APP transgenic mice is apparently caused by soluble A Beta assemblies, but whether and how much of the dementia within individuals afflicted with AD is caused by these A Beta species is unclear.
|
11773429 |
2002 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Ischemic lesions are characteristic of several hereditary CAA syndromes, including a recently described mutation of the amyloid precursor protein associated with dementia (but not hemorrhagic stroke) in an Iowa family.
|
11901242 |
2002 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Metalloenzyme-like activity of Alzheimer's disease beta-amyloid. Cu-dependent catalytic conversion of dopamine, cholesterol, and biological reducing agents to neurotoxic H(2)O(2).
|
12192006 |
2002 |
Presenile dementia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Factors which influence Abeta levels, rather than overexpression of APP, may account for the differences in age at onset of dementia in Down's syndrome.
|
11983636 |
2002 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's disease (AD) is the most common cause of dementia that arises on a neuropathological background of amyloid plaques containing beta-amyloid (A beta) derived from amyloid precursor protein (APP) and tau-rich neurofibrillary tangles.
|
12223532 |
2002 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is a rare autosomal dominant disorder caused by an amyloid-beta precursor protein (AbetaPP) 693 mutation that clinically leads to recurrent hemorrhagic strokes and dementia.
|
14678776 |
2003 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here frame-shift ubiquitin-B and amyloid precursor protein were immunochemically shown to exist in the brain of high pathology control (HPC) patients with AD pathology but without prior dementia.
|
12893422 |
2003 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Hypothesis for a common basis for neuroprotection in glaucoma and Alzheimer's disease: anti-apoptosis by alpha-2-adrenergic receptor activation.
|
12852432 |
2003 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Impaired modulation of GABAergic transmission by muscarinic receptors in a mouse transgenic model of Alzheimer's disease.
|
12746438 |
2003 |