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Almeida, Sandra Cristina

One or more keywords matched the following properties of Almeida, Sandra Cristina

Property	Value
overview	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.

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overview

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

Item Type	Name
Academic Article	Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Concept	Amyotrophic Lateral Sclerosis
Academic Article	Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.
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	GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function.
Academic Article	ALS-linked protein disulfide isomerase variants cause motor dysfunction.
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	Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.
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.
Academic Article	Excessive release of inorganic polyphosphate by ALS/FTD astrocytes causes non-cell-autonomous toxicity to motoneurons.
Academic Article	How villains are made: The translation of dipeptide repeat proteins in C9ORF72-ALS/FTD.
Academic Article	Loss of TDP-43 function contributes to genomic instability in amyotrophic lateral sclerosis.
Academic Article	The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD.

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Motor Neuron Disease