Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"C9orf72 Protein"”.
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MULTI-OMICS APPROACHES TO CHARACTERIZE PATIENT-DERIVED SPINAL CORD ORGANOIDS AND ASSESS NOVEL GENES ASSOCIATED WITH C9ORF72-AMYOTROPHIC LATERAL SCLEROSIS
… this project was to unravel the role of genes, proteins, and pathways of interest by applying integrated multi-omics approaches to spinal cord organoids (SCOs) generated from patient-derived induced pluripotent stem cells (iPSCs) and isogenic lines obtained with CRISPR/Cas9 technology. …
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INDUCED PLURIPOTENT STEM CELLS (IPSC) TO STUDY PATHOMECHANISMS ASSOCIATED TO AMYOTROPHIC LATERAL SCLEROSIS (ALS)
… GGGGCC hexanucleotide repeat expansion (HRE) in C9ORF72 gene which is polymorphic in healthy subjects (2-23 units), while in ALS patients it expands from 30 to more than 4000 units. The pathomechanisms associated to C9ORF72 HRE include a loss of function due to C9ORF72 protein haploinsufficiency …
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A Chemically Induced Colitis Screen Reveals the Necessity for Membrane Traffic in Intestinal Homeostasis
… to protect against colitis. SMCR8, along with C9ORF72 and WDR41, is a member of a tripartite complex that functions as a guanine exchange factor. SMCR8 localizes to the lysosome, and its absence results in perturbations to endocytic and phagocytic pathways. Hyperactivation of endosomal …
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Toxic PRn Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Block Nuclear Import and Export
… repeat within the first intron of the C9orf72 gene is the mutation that leads to the most prevalent heritable form of amyotrophic lateral sclerosis (ALS). The expanded repeat is aberrantly transcribed from both sense and anti-sense strands relative to the C9orf72 gene, and both …