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Showing 1 to 20 of 24 for “"C9ORF72"”.

  1. Molecular mechanisms of axonal transport impairment in C9orf72-associated neurodegenerative disease

    Young, FlorenceUniversity of Cambridge2021

    … which is caused by an expansion in the gene C9orf72. Previous experiments indicated that the arginine-rich dipeptide repeats (DPRs) produced from the C9orf72 expansion can disrupt many cellular processes, including intracellular transport. However, the mechanism by which axonal transport is …

    cambridge Repository record

  2. Selective Neuronal Vulnerability in Neocortices from Patients with C9ORF72-related Neurodegeneration

    Kwa, Jing EugeneUniversity of Cambridge2023

    … the hexanucleotide repeat expansion in the gene C9ORF72 (c9HRE): the most common genetic cause of both ALS and FTD. We hypothesise that in c9HRE-related neurodegeneration, neuronal pathology may extend beyond the motor neurons. To date, a comprehensive survey of selective neuronal vulnerability …

    cambridge Repository record

  3. Investigating the Effects of C9orf72 Haploinsufficiency on TDP-43 Pathology in ALS

    Lin, Lilian Tsai Wei2023

    … with chromosome 9 open reading frame 72 (C9orf72) G4C2 repeat expansions, the most common genetic cause of ALS/FTD. C9orf72 is a differentially expressed in normal and neoplastic cells (DENN) domain containing protein and is reported to have roles in autophagy. The mechanisms in which …

    toronto-retro Repository record

  4. Factors That Mediate Expression Of Unique Ggggcc Repeat Expansions In C9orf72-Associated Als/ftd.

    Goodman, Lindsey D.2019

    … of >30 repeats was discovered within intron 1 of C9orf72, defining ~40% of familial and ~7% of sporadic ALS/FTD cases. Aberrant accumulation of G4C2-RNA and the aggregation of its repeat-associated non-AUG (RAN-) translation products occurs in diseased tissue. Herein, we developed two Drosophila …

    penn Repository record

  5. Investigating the role of mitochondrial dysfunction in a Drosophila model of C9orf72 ALS/FTD

    Au, Wing HeiUniversity of Cambridge2022

    … of GGGGCC (G4C2) in the first intron of C9orf72 is the most common pathogenic mutation in ALS/FTD. Three disease mechanisms have been proposed including haploinsufficiency and the sequestration of RNA binding proteins at accumulations (foci) of the transcribed RNA. Although intronic, the …

    cambridge Repository record

  6. Toxic PRn Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Block Nuclear Import and Export

    Shi, Kevin2021

    … 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 …

    utswmed Repository record

  7. Modeling of FUS- and C9ORF72-associated cortical neuropathology using patient-specific induced pluripotent stem cells

    Japtok, JuliaTechnische Universität Dresden

    … (FUS) und Chromsosome 9 open reading frame (C9ORF72). Circa 4% der fALS Fälle sind durch dominante Mutationen in FUS verursacht und repräsentieren damit die dritthäufigste Form der fALS in Deutschland. Die G4C2 hexanucleotide repeat expansion (HRE) in C9ORF72 ist die häufigste Ursache für ALS …

    qucosa-diss

  8. INVESTIGATING THE ROLE OF SNAP29 AND THE AUTOPHAGY PATHWAY IN DROSOPHILA MELANOGASTER MODELS OF C9ORF72 - LINKED ALS/FTD.

    SMEELE, PAULIEN HERMINEUniversità degli Studi di Milano2024

    … of G4C2 in the non-coding region of the C9orf72 gene is frequently observed in patients with ALS and FTD. This repeat expansion is known to contribute to disease through a dual mechanism: loss of function of the C9orf72 gene and/or toxic gain of function mediated by the repeat RNA and …

    milano Repository record

  9. INDUCED PLURIPOTENT STEM CELLS (IPSC) TO STUDY PATHOMECHANISMS ASSOCIATED TO AMYOTROPHIC LATERAL SCLEROSIS (ALS)

    SANTANGELO, SERENAUniversità degli Studi di Milano2023

    … 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 …

    milano Repository record

  10. MULTI-OMICS APPROACHES TO CHARACTERIZE PATIENT-DERIVED SPINAL CORD ORGANOIDS AND ASSESS NOVEL GENES ASSOCIATED WITH C9ORF72-AMYOTROPHIC LATERAL SCLEROSIS

    GALLI, NOEMIUniversità degli Studi di Milano2024

    … from 3 patients carrying mutations in the C9ORF72 gene. The G4C2 hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic form of ALS and causes a complex and multifactorial pathological phenotype that is not properly understood. In fact, C9ORF72 protein participates in a …

    milano Repository record

  11. Systems Biology Approaches for Elucidating Early ALS Disease Processes

    Li, JonathanMassachusetts Institute of Technology2022

    … systems biology approaches. In patients with the C9orf72 mutation, I use a network-based algorithm to identify disrupted pathways enriched for extracellular matrix organization and protein transport. Integrating these findings with results from a C9orf72 Drosophila model, I found causal and …

    mit Repository record

  12. Histone Post-translational Modification Dysregulation Contributes to Toxicity in Amyotrophic Lateral Sclerosis Proteinopathy Models

    Bennett, Seth AThe Graduate School and University Center of The City University of New York2021

    … of histone phosphorylation in the pathology of C9orf72 ALS and identify Ipl1/Aurora B Kinase as a possible therapeutic target. We find that H3S10ph levels are significantly increased in both yeast and human <em>in vitro </em>models of C9orf72 ALS. Furthermore, we show that knocking down Ipl1 in …

    cuny-grad Repository record

  13. AGGREGATION MECHANISMS OF TDP-43 PROTEIN IN RESPONSE TO STRESS IN AMYOTROPHIC LATERAL SCLEROSIS AND THERAPEUTIC APPROACHES

    CASIRAGHI, VALERIAUniversità degli Studi di Milano2024

    … obtained from ALS patients with mutations in the C9orf72 gene, where we demonstrated that it reduced ARS-induced formation of phosphorylated TDP-43 (P-TDP-43) aggregates and stress granules (SGs). We also tested rapamycin in iPSCs-motor neurons from C9orf72-mutated patients, where we confirmed its …

    milano Repository record

  14. A Chemically Induced Colitis Screen Reveals the Necessity for Membrane Traffic in Intestinal Homeostasis

    McAlpine, William Elliott2021

    … 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 …

    utswmed Repository record

  15. Phosphoglycerate kinase 1 as a therapeutic target in motor neuron disease

    McHale-Owen, Harriet2026

    … These lead compounds were then screened in a C9orf72 knockdown zebrafish model of MND. This work highlighted the importance of using a disease model for screening, as adding extra PGK1 to cells with adequate levels shows little observable effect. An alternative model is needed to test …

    edinburgh Repository record

  16. UNRAVELLING THE MOLECULAR BASIS OF ALZHEIMER¿S DISEASE AND FRONTOTEMPORAL DEMENTIA: GENETIC AND EPIGENETIC APPROACH THROUGH NEXT GENERATION SEQUENCING AND OPENARRAY TECHNOLOGIES

    SORRENTINO, FEDERICAUniversità degli Studi di Milano2023

    … 754 miRNAs in 30 patients carrying mutations in C9ORF72, GRN and MAPT genes, and 10 control subjects, using OpenArray technology. Following the genetic study, a total of 35 variants were found in 36 over 188 patients screened. Some of these variants occurred in causative genes or in genetic risk …

    milano Repository record

  17. Targeting ALS: A Multi-Cellular Study on the Potential Therapeutic Role of Azole-Based Compounds

    Kennedy, Alisha R.

    … of TDP-43, particularly due to mutations in the C9orf72 gene, is cytotoxic and contributes to neuronal death, providing a target for therapeutic intervention. Researchers continue to explore ways to halt or slow the progression of ALS, but currently, no cure exists.</p> <p>Chapter 2 delves into …

    columbus-state Repository record

  18. CHEMICAL APPROACHES TOWARD NEW PERSPECTIVES IN DRUG DISCOVERY: NATURAL PRODUCTS AND BIOACTIVE HITS AS AN INSPIRATION

    MAIOCCHI, ALICEUniversità degli Studi di Milano2024

    … G4C2 repeats, resulting from mutations in the C9orf72 gene, as contributors to the pathologies of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The chapter highlights the modification of a hit bisthiophene-based compound, which preferentially stabilizes G-quadruplex RNA …

    milano Repository record

  19. Understanding mechanisms related to psychosis in Motor Neurone Disease

    Wilcox, AliciaUniversity of Cambridge2020

    … psychosis is not common, except in those with C9orf72+ expansions. However, subthreshold psychosis or pre-psychosis processes are common and provide the opportunity to study the mechanisms of psychosis in MND and FTD-MND. My aim was to identify the prevalence and the cognitive and neural …

    cambridge Repository record

  20. Positron emission tomography in vivo characterisation of the pathology of frontotemporal dementia

    Bevan-Jones, William RichardUniversity of Cambridge2020

    … Semantic Dementia and one case of FTD from a C9orf72 expansion, both strongly associated with TDP-43 pathology without tau; and (iii) the increase in [18F]AV-1451 binding, and changes in the distribution of binding, in thirty one patients spanning the three major FTD syndromes in comparison to …

    cambridge Repository record

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