Compensatory mechanisms in genetic models of neurodegeneration: are the mice better than humans? [PDF]
, 2015 Neurodegenerative diseases are one of the main causes of mental and physical disabilities. Neurodegeneration has been estimated to begin many years before the first clinical symptoms manifest, and even a prompt diagnosis at this stage provides very ...
Grzegorz Kreiner
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A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]
, 2017 Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik) +9 more
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Role of cyclooxygenae-2 and 5-lypoxygenase polymorphisms in Alzheimer's disease in a population from northern Italy:implications for pharmacogenomics [PDF]
, 2010 Alzheimer's disease (AD) is a neurodegenerative disorder clinically characterized by cognitive deficit with progressive worsening of memory. Recent data indicate that neurons, as well as other brain cells, can express enzymes such as cyclooxygenases ...
CANDORE, Giuseppina +6 more
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The Nicastrin ectodomain adopts a highly thermostable structure [PDF]
, 2011 Nicastrin is a type I transmembrane glycoprotein, which is part of the high molecular weight gamma-secretase complex. gamma-Secretase is one of the key players associated with the generation of Alzheimer's disease pathology, since it liberates the ...
Beyer, Klaus +6 more
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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network
Alzheimer’s Research & Therapy, 2018 Background Mutations in amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) cause autosomal dominant forms of Alzheimer disease (ADAD). More than 280 pathogenic mutations have been reported in APP, PSEN1, and PSEN2.
Celeste M. Karch +19 more
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The genetics of dementia [PDF]
, 2013 Over the past decade, there has been a dramatic evolution of genetic methodologies that can be used to identify genes contributing to disease. Initially, the focus was primarily on classical linkage analysis; more recently, genomewide association studies,
Farlow, Janice L., Foroud, Tatiana
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Epigenetic modifications of DNA and RNA in Alzheimer’s disease
Frontiers in Molecular NeuroscienceAlzheimer’s disease (AD) is a complex neurodegenerative disorder and the most common form of dementia. There are two main types of AD: familial and sporadic. Familial AD is linked to mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), and
Paula Martinez-Feduchi +2 more
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The clinical utility of gene testing for Alzheimer’s disease
Neurology International, 2011 Alzheimer’s disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a ...
Emily R. Atkins, Peter K. Panegyres
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Unraveling Presenilin 2 Functions in a Knockout Zebrafish Line to Shed Light into Alzheimer's Disease Pathogenesis. [PDF]
Cells, 2023 Barazzuol L +6 more
europepmc +1 more source
Frontiers in Neurology, 2015 Our understanding of the pathogenesis of Alzheimer disease (AD) has been greatly influenced by investigation of rare families with autosomal dominant mutations that cause early onset AD. Mutations in the genes coding for Amyloid Precursor Protein (APP),
Suzanne Elizabeth Schindler +1 more
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