Global ETD Search
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Showing 1 to 4 of 4 for “"Hereditary Spastic Paraplegias (HSPs)"”.
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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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The roles of spartin in Drosophila circadian clock
Hereditary spastic paraplegias (HSPs) are a group of neurological disorders characterized by muscle weakness and progressive spasticity in lower limb. Troyer syndrome is an autosomal recessive form of HSPs caused by a frame-shift mutation in the spartin (SPG20) gene encoding SPARTIN protein. …
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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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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 …