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Showing 1 to 6 of 6 for “"Neuronal ceroid lipofuscinosis"”.
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The Role of Astrocyte Activation in Infantile Neuronal Ceroid Lipofuscinosis
Infantile neuronal ceroid lipofuscinoses: INCLs), or Batten Disease, is an inherited neurodegenerative lysosomal storage disorder affecting the central nervous system: CNS) during infancy or childhood. Hallmark pathological changes include accumulation of autofluorescent material, neuronal loss, …
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Gain And Loss Of Progranulin Have Opposite Effects On Autophagy
… (AD), whereas homozygous mutations result in neuronal ceroid lipofuscinosis (NCL), an infantile onset disease. During my Ph.D thesis, I found that hepatic PGRN overexpression in mice results in autophagy impairment leading to metabolic syndrome whereas PGRN loss in mouse brains results in …
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Astrocyte: Neuron Interactions in the Juvenile Form of Batten Disease
The neuronal ceroid lipofuscinosis (NCLs, Batten Disease) are inherited, fatal neurodegenerative disorders of childhood. In all forms of NCL, astrocyte activation occurs early in the disease and precedes neuronal loss. However, in the most common juvenile form (JNCL), which is caused by a mutation …
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Examination of Abnormal Dolichol Metabolism in Infantile Batten Disease Caused by Palmitoyl Protein Thioesterase-1 (PPT1) Deficiency
The neuronal ceroid lipofuscinosis (NCLs, also known collectively as Batten disease) are a group of lysosomal storage disorders characterized by the accumulation of autofluorescent storage material in the brain. Although a number of genes underlying different forms of NCL have been cloned, the …
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Spinal cord pathology of ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease) : A thesis submitted in partial fulfilment of the requirements for the Degree of Master of Agricultural Science at Lincoln University
Neuronal ceroid lipofuscinosis (NCL or Batten disease) is a fatal neurodegenerative disorder, which occurs in approximately 1 in 12,500 children worldwide and currently has no cure. To date, there are thirteen known variants of NCL, caused by mutations in the genes CLN1-8 or CLN10-14. Two naturally …