Sökning: "PSEN1"

Visar resultat 1 - 5 av 12 avhandlingar innehållade ordet PSEN1.

1. 1. The physiological processing of Alzheimer-associated amyloid beta precursor protein in human and animal-derived neuronal models

   Författare :Tugce Munise Satir; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer’s disease; APP; Aβ; human iPSCs; cortical neurons; BACE1; PSEN1; neuronal activity; neuronal differentiation;

   Sammanfattning : Alzheimer’s disease (AD) is characterized by cognitive impairment due to the loss of structure and/or function of neurons, and amyloid plaques composed of aggregated-amyloid beta (Aβ) peptides, primarily species ending at the amino acid 42 (Aβ42), are one of the major neuropathological hallmarks of AD. Aβ peptides of different lengths are produced by sequential cleavage of amyloid beta precursor protein (APP) by α-, β- and γ- secretases. LÄS MER

3. 2. CRISPR/Cas9-based therapies and the role of astrocytes in Alzheimer’s disease and Parkinson’s disease

   Författare :Evangelos Konstantinidis; Martin Ingelsson; Anna Erlandsson; Vilmantas Giedraitis; Magnus Essand; Harald Steiner; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer s disease; Parkinson s disease; gene editing; CRISPR Cas9; amyloid-beta; astrocytes; neurons; iPSCs; electrophysiology;

   Sammanfattning : Alzheimer’s disease (AD) and Parkinson’s disease (PD) are the two most common neurodegenerative disorders. Whereas the AD brain features plaques of amyloid-beta (Aβ) and neurofibrillary tangles of tau, the PD brain is characterized by Lewy bodies and Lewy neurites containing α-synuclein (αSyn). LÄS MER

4. 3. SNP technology and Alzheimer’s disease

   Författare :Walter Mathias Howell; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : One major goal of genetic research is to understand the role of genetic variation. By far the most common type of such variation in humans involves single DNA bases, and is termed single nucleotide polymorphism (SNP). LÄS MER

5. 4. Association studies on susceptibility genes in Alzheimer disease

   Författare :Behnosh Fakhri Björk; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Our results support the involvement of genetic variants in IDE; TFAM and COL25A1 in AD cases from Sweden; whereas; it does not for PITRM1.;

   Sammanfattning : Alzheimer disease (AD) is the most common form of dementia in the elderly. Due to the complexity of AD, it has been difficult to find genetic risk factors predisposing to disease. To date, three genes (APP, PSEN1 and PSEN2) with disease causing genetic variants have been reported for the rare early onset monogenic forms of AD. LÄS MER

7. 5. Genetic Studies of Alzheimer's Disease

   Författare :Elin Blom; Anna Glaser; Martin Ingelsson; Lars Lannfelt; Jan Hillert; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer s disease; Linkage; Affected sib-pairs; APOE; APP duplication; 10q21; 19q13; Wnt signaling; Geriatrics and medical gerontology; Geriatrik och medicinsk gerontologi;

   Sammanfattning : Patients with Alzheimer's disease (AD) often have a family history of the disease, implicating genetics as a major risk factor. Three genes are currently known to cause familial early-onset AD (65 years), only the APOE gene has repeatedly been associated to AD, where the ε4 allele increases disease risk and decreases age at onset. LÄS MER