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.
Results
Showing 1 to 9 of 9 for “"batten disease"”.
-
Pathogenic impact of immune-related cells in Batten disease
The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are inherited neurodegenerative diseases of children. In all types of NCL glial activation, the innate immune response of the brain, precedes neurodegeneration. However, it is unclear whether adaptive immune responses are also involved in …
-
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 …
-
INHIBITING THE NUCLEAR RECEPTOR ESRRA RESCUES CORE PATHOLOGIES IN CELLULAR AND ANIMAL MODELS OF BATTEN DISEASE
Batten disease (BD), a group of fatal neurodegenerative lysosomal storage disorders, is characterized by vision loss, cognitive decline, and seizures. Our lab recently identified the accumulation of the glycosphingolipid Gb3 as a key pathological hallmark in multiple BD subtypes (Soldati et al., …
-
Examination of Abnormal Dolichol Metabolism in Infantile Batten Disease Caused by Palmitoyl Protein Thioesterase-1 (PPT1) Deficiency
… 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 underlying mechanism …
-
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 …
-
Standardizing a freely-behaving canine videofluoroscopic swallow study protocol to investigate dysphagia in primary aging and neurological diseases
… of dysphagia in primary aging and neurological disease conditions. A VFSS protocol was established using 49 dogs, divided into seven conditions: control, canine degenerative myelopathy, Batten disease, cricopharyngeal dysfunction, cerebellar ataxia, megaesophagus, and dysphagia of an unspecified …
-
The Role of Astrocyte Activation in Infantile Neuronal Ceroid Lipofuscinosis
… 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, …
-
Biophysical and Therapeutic Approaches to Neurodegenerative Disease: Insights From Lysosomal and RNA-Binding Protein Systems
Neurodegenerative diseases arise from progressive failures in the cellular systems that maintain protein and RNA homeostasis, yet how distinct molecular defects contribute to the disease pathogenesis is incompletely understood. This dissertation investigates two complementary arms of this network: …
-
Investigating novel therapeutic approaches and targets to prevent synapse degeneration
Neurodegenerative diseases are associated with extensive physical and mental debilitation, significant costs to the healthcare system, as well as great emotional and financial burden to the patients, their families and care providers. Despite progress in our understanding of the mechanisms behind …