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Status |
Public on May 20, 2010 |
Title |
Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by array
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Summary |
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.
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Overall design |
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).
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Contributor(s) |
Johnson KR, Brady RO |
Citation missing |
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Submission date |
May 19, 2010 |
Last update date |
Dec 06, 2018 |
Contact name |
Kory R Johnson |
E-mail(s) |
johnsonko@ninds.nih.gov
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Phone |
301-402-1956
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Organization name |
NINDS/NIH
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Department |
DIR IT & Bioinformatics
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Lab |
Bioinformatics Section
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Street address |
10/3B01, 9000 Rockville Pike
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City |
Bethesda |
State/province |
MD |
ZIP/Postal code |
20892 |
Country |
USA |
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Platforms (1) |
GPL571 |
[HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array |
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Samples (14)
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Relations |
BioProject |
PRJNA126861 |