E-MEXP-3033 - Gene expression profiling of Fibroblasts of Sanfilippo syndrome type B patient
Submitted on 15 December 2010, released on 15 March 2011, last updated on 27 March 2012
Gene expression profiling of human fibroblasts from patients with Sanfilippo syndrome type B (MPSIIIB) before and after correction of the Alpha N-acetylglucosaminidase (NAGLU) enzyme defect.
transcription profiling by array, co-expression, disease state, in vitro, physiological process
Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells. Lemonnier T, Blanchard S, Toli D, Roy E, Bigou S, Froissart R, Rouvet I, Vitry S, Heard JM, Bohl D. Hum Mol Genet 20(18):3653 (2011), PMID:21685203