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 12 of 12 for “"hereditary spastic paraplegia"”.
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Investigating the function of the hereditary spastic paraplegia protein spastin in the endomembrane system
Hereditary spastic paraplegias (HSPs) are genetically inherited neurological diseases characterised by the distal axonal degeneration of corticospinal neurons. Of the 80 genes currently associated with HSP, mutations in SPAST, encoding the protein spastin, are by far the most common cause of …
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Testing roles of Hereditary Spastic Paraplegia genes in axonal endoplasmic reticulum modelling in Drosophila
Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by progressive lower limb spasticity due to axonal degeneration. Smooth endoplasmic reticulum (ER) forms a longitudinal network within the axon; common mutations in HSP affect proteins of the spastin, atlastin, REEP …
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Balance and gait problems in people with hereditary spastic paraplegia: patient experience, underlying mechanisms, and clinical management
Contains fulltext : 225372.pdf (Publisher’s version ) (Open Access)
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Testing roles of Hereditary Spastic Paraplegia (HSP) proteins in organization of axonal endoplasmic reticulum (ER) and ER-mitochondria contacts
The Hereditary Spastic Paraplegias (HSPs) are a group of genetically heterogeneous, neurodegenerative and neurodevelopmental diseases characterised by spasticity and lower limb weaknesses. Some known causative genes imply the importance of endoplasmic reticulum (ER) function and morphogenesis in …
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The interconnected roles of spastin and protrudin in endosomal sorting
… fission. Our lab has previously identified two hereditary spastic paraplegia (HSP)- associated proteins, spastin (SPG4) and atlastin-1 (SPG3A), as essential for endosomal tubule fission. I investigated the functional interaction of spastin and protrudin and found that protrudin, an ER-associated …
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Visualizing Roles of Spastic Paraplegia Proteins in Organizing Axonal ER in Live Drosophila
… can lead to the axon degenerative disease, hereditary spastic paraplegia (HSP). However, the extent and mechanisms by which HSP proteins contribute to axonal ER organization and dynamics are unclear. To understand these mechanisms, there is a need to visualize axonal ER in wild-type and …
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Theoretical Studies of Protein-Protein Interactions
… of this thesis is dedicated to the study of Hereditary Spastic Paraplegia (HSP) which is caused by mutations in neuronal kinesin-1. HSP is a disease that is thought to be caused by slowed intracellular transport by mutated kinesin-1. Two mutations, namely N256S and R280C, were experimentally …
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Characterising the roles of mammalian atlastins in the endoplasmic reticulum and beyond
Hereditary spastic paraplegia (HSP) is a group of currently incurable disorders caused by the degeneration of corticospinal upper motor neuron axons, which are among the longest in the body. Recent research suggests that a few unifying pathways could link many genetically distinct HSP subtypes. …
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CROSS-DISEASE ANALYSIS OF MOLECULAR AND CELLULAR MECHANISMS IN KIF5A-ASSOCIATED NEURODEGENERATIVE DISORDERS
… motor and stalk domains are associated with hereditary spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth disease (CMT), while frameshifts in its tail are linked to amyotrophic lateral sclerosis (ALS) and neonatal intractable myoclonus (NEIMY). To date, the molecular bases …
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INDUCED PLURIPOTENT STEM CELLS (IPSC) TO STUDY PATHOMECHANISMS ASSOCIATED TO AMYOTROPHIC LATERAL SCLEROSIS (ALS)
… mutations in KIF5A gene may cause ALS or hereditary spastic paraplegia (HSP). KIF5A encodes for a microtubule motor protein involved in the anterograde transport in neurons. I reprogrammed fibroblasts from a HSP patient carrying a novel KIF5A mutation (p.R17Q) into iPSC and also generated …
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An investigation of the function of adaptor protein complex 4 (AP-4)
Vesicle trafficking provides the solution to the ‘sorting problem’ – how the eukaryotic cell maintains the distinct identities, and thus functional properties, of its membrane-bound organelles. During vesicle trafficking, proteins are selectively sorted into membrane bound transport intermediates …
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Molekulare Charakterisierung des COPS5-Gens und seines Genproduktes als Kandidat für die Spastische Spinalparalyse
Die hereditären spastischen Paraplegien (HSP) bilden eine klinisch und genetisch heterogene Gruppe neurodegenerativer Erkrankungen. Das Vererbungsmuster folgt autosomal-dominaten (AD), autosomal-rezessiven (AR) und X-chrosomalen (X) Erbgängen. Eine besondere Bedeutung kommt dem SPG4-Gen mit seinem …