Publications by authors named "Farzaneh S Mirfakhar"
CD2-associated protein (CD2AP) was identified as a genetic risk factor for late-onset Alzheimer's disease (LOAD). However, it is unclear how CD2AP contributes to LOAD synaptic dysfunction underlying AD memory deficits. We have shown that loss of CD2AP function increases β-amyloid (Aβ) endocytic production, but it is unknown whether it contributes to synapse dysfunction.
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- Neuronal dysfunction is a key aspect of neurodegenerative tauopathies, but immune cells like microglia also play a significant role in the disease's progression.
- This study shows that tau mRNA and protein are present in microglia and that a specific tau mutation (IVS10+16) can change how these immune cells behave, causing issues like cytoskeletal problems and stalled phagocytosis.
- Secretions from microglia with this mutation negatively affect neuron health, leading to decreased synaptic density, and similar characteristics were observed in human brain samples from mutation carriers, suggesting important implications for future therapies.
TREM2 is an innate immune receptor expressed by microglia in the adult brain. Genetic variation in the TREM2 gene has been implicated in risk for Alzheimer's disease and frontotemporal dementia, while homozygous TREM2 mutations cause a rare leukodystrophy, Nasu-Hakola disease (NHD). Despite extensive investigation, the role of TREM2 in NHD pathogenesis remains poorly understood.
View Article and Find Full Text PDFAlzheimer's disease (AD) is the most common neurodegenerative disease characterized by progressive memory loss. Although AD neuropathological hallmarks are extracellular amyloid plaques and intracellular tau tangles, the best correlate of disease progression is synapse loss. What causes synapse loss has been the focus of several researchers in the AD field.
View Article and Find Full Text PDFAim: The purpose of this study was to evaluate the influence of intronic polymorphism of the SMAD7 (Mothers Against Decantaplegic Homolog 7) gene (rs2337104) on the risk of colorectal cancer (CRC) and clinicopathological features in an Iranian population.
Background: SMAD7 has been identified as an antagonist of transforming growth factor beta (TGF-b)-mediating fibrosis, carcinogenesis, and inflammation. Regarding to the recent genome-wide scan, a risk locus for colorectal cancer at 18q21 has been found, which maps to the SMAD7 gene.