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Articles 1 - 2 of 2
Full-Text Articles in Medicine and Health Sciences
Global Cns Gene Transfer For A Childhood Neurogenetic Enzyme Deficiency: Canavan Disease., Paola Leone, Christopher G Janson, Scott J Mcphee, Matthew J During
Global Cns Gene Transfer For A Childhood Neurogenetic Enzyme Deficiency: Canavan Disease., Paola Leone, Christopher G Janson, Scott J Mcphee, Matthew J During
Department of Neurosurgery Faculty Papers
The neurogenetic prototypic disease on which we chose to test our gene therapy strategy is Canavan disease (CD). CD is an autosomal recessive leukodystrophy associated with spongiform degeneration of the brain. At present the disease is uniformly fatal in affected probands. CD is characterized by mutations in the aspartoacylase (ASPA) gene, resulting in loss of enzyme activity. In this review, recent evidence is summarized on the etiology and possible treatments for CD. In particular, we discuss two gene delivery systems representing recent advances in both viral and liposome technology: a novel cationic liposome-polymer-DNA (LPD) complex, DCChol/DOPE-protamine, as well as recombinant …
Cystic Fibrosis: Biological And Ethical Considerations, Sarah Elizabeth Milam
Cystic Fibrosis: Biological And Ethical Considerations, Sarah Elizabeth Milam
Honors Theses
Cystic fibrosis (CF) is a progressive, multisystem disease whose etiology is a genetic mutation in the CF gene product, cystic fibrosis transmembrane conductance regulator (CFTR). The disorder affects all exocrine glands, with common symptoms involving the lungs and pancreas. Although the CF gene and its protein product have been identified, two aspects of the disease make CF particularly difficult to diagnose and manage: (a) variability in both degree and pattern of the mutation in different individuals and (b) lack of information regarding the precise molecular and cellular mechanisms responsible. Let us begin by examining the pathogenesis and pathophysiology of the …