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One or more keywords matched the following properties of Almeida, Sandra Cristina
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My primary research focus is on understanding the molecular mechanisms of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Alzheimer disease (AD). Our strategy involves the use of patient derived cellular models. To date we have generated induced pluripotent stem cell (iPSC) lines from FTD and ALS/FTD patients carrying mutations in progranulin, C9ORF72, TDP-43 and MAPT, as well as lines from healthy controls. I have differentiated these iPSCs into post-mitotic cortical and motor neurons and applied a variety of approaches to uncover underlying molecular and cellular defects. This approach allows the interrogation of patient-derived neurons in the appropriate, differentiated context, leading to a better understanding of how ALS/FTD mutations impact cellular physiology, resulting in their pathogenic consequences. We are also using a gene editing approach to create CHMP2B mutant iPSCs that can be differentiated into a cellular model for the study of AD cellular pathogenesis. I am particularly interested in exploring and testing potential therapeutic interventions to halt or slow the progression of these and related diseases.
Summary Dr. Almeida’s primary focus is elucidating the molecular mechanisms of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD). Her main strategy employs patient-derived, induced pluripotent stem cell (iPSC) lines to generate disease-relevant neuronal cells.
One or more keywords matched the following items that are connected to Almeida, Sandra Cristina
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Academic Article Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins.
Academic Article Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Academic Article Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Concept Frontotemporal Dementia
Academic Article Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.
Academic Article Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Academic Article Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia.
Academic Article FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions.
Academic Article Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.
Academic Article Suberoylanilide hydroxamic acid increases progranulin production in iPSC-derived cortical neurons of frontotemporal dementia patients.
Academic Article Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD.
Academic Article GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
Academic Article Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
Academic Article Human iPSC-Derived Neuronal Model of Tau-A152T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability.
Academic Article MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations.
Academic Article Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.
Academic Article Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia.
Academic Article Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.
Academic Article Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models.
Academic Article C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo.
Academic Article Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD.
Academic Article CRISPR deletion of the C9ORF72 promoter in ALS/FTD patient motor neurons abolishes production of dipeptide repeat proteins and rescues neurodegeneration.
Academic Article TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking.
Academic Article Translation of the poly(GR) frame in C9ORF72-ALS/FTD is regulated by cis-elements involved in alternative splicing.
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  • Frontotemporal Dementia