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.
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Showing 1 to 3 of 3 for “"Giant axonal neuropathy"”.
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Identification of altered Ras signaling and intermediate filament hyperphosphorylation in giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disease that causes progressive damage to the nervous system. Neurons in GAN patients develop an abnormal organization of cytoskeletal proteins called intermediate filaments (IFs), which normally provide strength and support for the overall cell …
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Role of Gigaxonin in the Regulation of Intermediate Filaments: a Study Using Giant Axonal Neuropathy Patient-Derived Induced Pluripotent Stem Cell-Motor Neurons
Patients with giant axonal neuropathy (GAN) exhibit loss of motor and sensory function and typically live for less than 30 years. GAN is caused by autosomal recessive mutations leading to low levels of gigaxonin, a ubiquitously-expressed cytoplasmic protein whose cellular roles are poorly …
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Quantitative proteomics analysis in cultured skin fibroblasts from patients with rare genetic disorders
… here, three genetic disorders are studied: Giant Axonal Neuropathy (GAN), Ullrich Congenital Muscular Dystrophy (UCMD) and Pseudoxanthoma Elasticum (PXE). The underlying gene defect in these disorders is known but the molecular mechanism leading to cell damage is not. In the study presented …