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.
Results
Showing 1 to 12 of 12 for “"ALS/FTD"”.
-
Factors That Mediate Expression Of Unique Ggggcc Repeat Expansions In C9orf72-Associated Als/ftd.
… and frontotemporal dementia spectrum disorders (ALS/FTD) are characterized by the degeneration of motor and cortical neurons. Recently, a hexanucleotide-repeat expansion of >30 repeats was discovered within intron 1 of C9orf72, defining ~40% of familial and ~7% of sporadic ALS/FTD cases. Aberrant …
-
Investigating the role of mitochondrial dysfunction in a Drosophila model of C9orf72 ALS/FTD
… including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). ALS is a debilitating and incurable disease characterised by the loss of upper and lower motor neurons leading to symptoms such as muscle weakness and paralysis. Most patients die from respiratory failure …
-
INVESTIGATING THE ROLE OF SNAP29 AND THE AUTOPHAGY PATHWAY IN DROSOPHILA MELANOGASTER MODELS OF C9ORF72 - LINKED ALS/FTD.
… accumulation. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two devastating neurodegenerative diseases, share overlapping clinical manifestations, pathogenic mechanisms, and genetic risk factors. Notably, a hexanucleotide repeat expansion of G4C2 in the non-coding …
-
Of Sex, Gut and Brain: Functional Studies in a Mouse Model of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
… lateral sclerosis-frontotemporal dementia (ALS-FTD) is a spectrum of neurodegenerative diseases characterized by the progressive loss of the motoneurons (typical of ALS), and cognitive dysfunction (characteristic of FTD). Studies have previously identified biological sex as an important …
-
Molecular mechanisms of axonal transport impairment in C9orf72-associated neurodegenerative disease
… and certain forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS or motor neuron disease). However, the cellular mechanisms that lead to impaired transport in these diseases are poorly understood. In this work I focus on the most common heritable form of ALS/FTD, which …
-
The role of the RNA-binding protein FUS in axonal organisation and disease
… in forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and ALS-associated mutations change its phase transitions and subcellular localisation. This is known to compromise axonal local protein synthesis (LPS), but it is not well-understood which critical …
-
Characterization of a Phosphomimetic Mutant of the ALS Associated Protein TDP-43
… pathogenesis of the neurodegenerative disorders ALS, FTD, and CTE. TDP-43 has been found hyperphosphorylated and ubiquitinated in the aggregates of the affected neurons of these diseases. The discovery of the presence of TDP-43 positive inclusions in brain matter of patients with CTE has made …
-
Parallels and Divergences in Multisystem Proteinopathy Genes: Stress Granules, Autophagy, and Myogenic Deficits
… rimmed vacuoles, Paget’s disease of bone, and ALS/FTD. Several different genes give rise to the unique phenotypic expression of MSP. Given the variety of genes that cause MSP and the specificity of the phenotype and tissue involvement, we asked; what are the unifying pathogenic features of MSP? …
-
DNA Secondary Structure in Human Disease and Gene Regulation
… to form leukemia-causing gene rearrangements. We also examine quadruplex-forming GGGGCC repeats known to cause ALS-FTD, and determine that DNA replication through the repeats leads to a length- and orientation-dependent increase in instability, including repeat expansions. Further, overall …
-
Investigating the Effects of C9orf72 Haploinsufficiency on TDP-43 Pathology in ALS
In amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), transactive response DNA-binding protein 43 (TDP-43), a mainly nuclear DNA/RNA binding protein, is mislocalized to the cytoplasm of diseased neurons, where it forms abnormally phosphorylated and ubiquitinated inclusions, …
-
THE INTERPLAY BETWEEN THE PROTEIN QUALITY CONTROL SYSTEM AND EXTRACELLULAR VESICLES IN THE DISPOSAL OF DISEASE-ASSOCIATED PROTEINS AND MIRNAS IN ALS AND FTD MODELS
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD) are two neurodegenerative diseases characterized by the presence within neurons of toxic cytoplasmic inclusions containing the insoluble forms of the TAR DNA-binding protein of 43 KDa (TDP-43) and its C-terminal fragments (CTFs) …
-
Fluorescence lifetime imaging microscopy to study protein aggregation in the context of neurodegenerative diseases
… with the onset of amyotrophic lateral sclerosis (ALS). Through the combined use of FLIM and single particle tracking (SPT), a tool to infer intracellular FUS viscosity in live cells, without the introduction of an external sensor, is created. Moreover, it is identified that ALS- associated …