Unknown,Transcriptomics,Genomics,Proteomics

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Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease


ABSTRACT: This work presents the discovery of genes that are dysregulated in patients with Type I and Type III Gaucher Disease. It provides insight into the unique pathogenesis of these phenotypes, improved diagnostic accuracy and potential novel therapies for these patients. Control and patient fibroblast cultures were established from full-thickness, skin biopsies obtained under a protocol approved by the IRB of the National Institute of Neurological Disorders and Stroke. Patient cultures were homoallelic for either the N370S mutation (non-neuronopathic, Gaucher Disease Type I, n=5), the L444P mutation (neuronopathic, Gaucher Disease Type III, n=5), or Wild-Type (Control, n=4).

ORGANISM(S): Homo sapiens

SUBMITTER: Kory Johnson 

PROVIDER: E-GEOD-21899 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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