Global ETD Search
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Showing 1 to 3 of 3 for “"Sialidosis"”.
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Developmental Characterization of the Choroid Plexus in Sialidosis (Neu1 Deficient) Mice
… lysosomal storage disorder called sialidosis. Mice deficient in Neu1 exemplify the early-onset severe form of sialidosis. Our laboratory has recently discovered that loss of Neu1 exacerbates the process of lysosomal exocytosis (LyEXO) in various cell types by influencing the sialic …
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Immunomodulatory Roles of the Lysosomal Sialidase Neuraminidase 1
… lysosomal storage disease known as sialidosis. In sialidosis, loss of NEU1 disrupts lysosomal catabolism, leading to accumulation of unprocessed substrates that drive pathogenesis by impinging on basic cellular processes, one of which is calcium-dependent lysosomal exocytosis. NEU1 …
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The genetics of non-syndromic hearing impairment in South Africa
… in NEU1, which is a gene associated with Sialidosis. We specifically investigated, in greater detail, a dominant novel variation in REST, present in one family, which encodes a transcription factor, that was identified using whole exome sequencing. This gene was previously suspected to be …