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 6 of 6 for “"Mucolipidosis"”.
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Developing Red Fluorescent Zn2+ Sensors and Characterizing Zn2+ Homeostasis in Mucolipidosis Type IV Disease
… aims to study Zn<sup>2+</sup> homeostasis in Mucolipidosis type IV (MLIV). MLIV is an inherited neurodevelopmental and neurodegenerative disorder, which has severe developmental delay, psychomotor deficits, and vision loss. It is caused by loss-function mutations in the lysosomal channel …
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C. elegans apoptosis : CED-4 translocation and involvement in a model of mucolipidosis type IV human lysosomal storage disorder
… in cup-5, the C. elegans homolog of the human mucolipidosis type IV gene, which is mutated in a lysosomal storage disorder. We found that cup-5 is required for viability and that excess lysosomes accumulate in cup-5 mutants. In addition, cup--5 mutants contain excess programmed cell deaths, …
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Involvement of Gdap1 In The Regulation of Mtorc1 Activity In A Drosophila Mliv Model
… In the childhood neurodevelopmental disorder Mucolipidosis type IV (MLIV), mTORC1 activity is decreased. The underlying mechanism for reduced mTORC1 signaling in MLIV is poorly understood. The gene encoding ganglioside-induced differentiation associated protein 1 (<em>GDAP1</em>) is …
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Regulation of Traffic into and out of the Yeast Endosome by the VPS9P Cue Domain and the VPS5P Domain
… been linked to congenital diseases including mucolipidosis type II (I-cell disease). An analogous trafficking system functions in the fungi Saccharomyces cerevisiae to deliver biosynthetic and endocytic cargo to the yeast vacuole. Genetic and biochemical analyses of the yeast vacuolar protein …
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Organellar Zn2+ Homeostasis and the Role of TRPML Channels in Neuronal Lysosome Physiology and Axonal Transport
… in vitro. Loss of TRPML1 function, which causes Mucolipidosis Type IV (MLIV) disease, impairs lysosomal Zn<sup>2+</sup> release, disrupts Zn<sup>2+</sup>-mediated regulation of axonal transport, and increases overall mitochondrial motility. In addition, MLIV patient mutations in TRPML1 have …
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TRPML1: Role In Autophagy And Potential Target To Treat Lysosomal Storage Disorders
… in human fibroblasts from patients affected of mucolipidosis IV (MLIV; a severe lysosomal storage disorder caused by mutations in TRPML1). By using specific compound inhibitors during starvation, we found that TRPML1-mediated induction of autophagosome biogenesis requires calmodulin, CaMKKβ, and …