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1	Role of N-glycosylation in trafficking and stability of human CLN5 Moharir, Akshay January 1900 (has links) Master of Science / Division of Biology / Stella Y Lee / Neuronal Ceroid Lipofuscinoses (NCLs) are a group of lysosomal storage diseases that are characterized by accumulating autofluorescent lipopigments in cells. NCLs are a form of progressive neurodegenerative diseases with symptoms ranging from blindness, loss of speech and motor activities to ataxia and seizures. Patients do not live to adulthood in most cases, making it prevalent in children. Among the many genes that cause NCL, CLN5 leads to different forms of NCL (infantile, late infantile, juvenile, and adult). CLN5 protein resides in the lysosomes but its function has not been established. It is predicted to contain eight N-glycosylation sites, but the role of N-glycosylation on its function and trafficking has not been assessed. We analyzed the role of N-glycosylation on the transport and stability of human CLN5. We created N-glycosylation mutants of each site by changing the Asn to Gln and our analysis of these mutants show that all the eight N-glycosylation sites are used in vivo. We also report effects of abolishing individual N-glycosylation sites on the trafficking of CLN5. While the lack of glycosylation at some sites results in CLN5 being retained in the ER or Golgi, others do not affect CLN5 trafficking. Cycloheximide chase experiments show that one of the mutants (N401Q) in CLN5 leads to lower protein levels in cell pellets with an increased secretion compared to CLN5 wild type, while other mutations show differential stability in cell pellets. These results demonstrate that each N-glycosylation site plays a different role(s) in the stability, transport and/or function of CLN5. CLN5 Neuronal Ceroid Lipofuscinosis (NCL) N-glycosylation Biology (0306) Cellular Biology (0379)
2	Utilisation du séquençage à haut débit dans l’identification des gènes prédisposant à l’épilepsie et aux syndromes neurocutanés Cadieux-Dion, Maxime 04 1900 (has links) No description available. génétique séquençage à haut débit syndrome de Kufs céroïde-lipofuscinose neuronal (NCL) syndrome de Giroux-Barbeau ataxie spinocérébelleuse (SCA) érythrokératodermie variabilis (EKV) analyse de liaison diagnostic génétique étude de famille épilepsie epilepsy genetic family study high throughput sequencing Kufs disease Giroux-Barbeau syndrome neuronal ceroid lipofuscinosis (NCL) spinocerebellar ataxia (SCA) erythrokeratodermia variabilis (EKV) linkage analysis genetic diagnosis

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Role of N-glycosylation in trafficking and stability of human CLN5

Utilisation du séquençage à haut débit dans l’identification des gènes prédisposant à l’épilepsie et aux syndromes neurocutanés