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Storage disease

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Data Correlations | 28 studies

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Genes category icon Genes
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PPT1 100 100
HEXA 100 100
GLB1 100 100
IDUA 100 100
HEXB 100 100
CTSA 100 100
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Biogroups category icon Biogroups
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Glycan Structures Degradation 100 100
Glycosaminoglycan Degradation 99 99
N-Glycan Degradation 94 94
Glycoside hydrolase, subgroup, cata… 93 93
Glycosphingolipid Metabolism 91 91
Sphingolipid Metabolism 90 90
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Individual Studies

  • Differential gene expression in BALB/c Npc1-/- and Npc1+/+ cerebellum

    Mus musculus Mus musculus | RNA Expression   RNA Expression

    Purkinje cells (PC) of the cerebellum degenerate in adult mice with mutations in the Niemann-Pick type C (NPC) disease 1 (Npc1) gene. We subjected BALB/c Npc1+/+ and Npc1-/- mouse cerebella from an early and a later time point of PC degeneration to a genome-wide microarray gene expression analysis. …

    Authors: Distl R, Kuban R

    Organization: Charité Universitätsmedizin Berlin Insti…

  • Analysis of Niemann-Pick type C fibroblast with I1061T NPC1 mutation

    Homo sapiens Homo sapiens | RNA Expression   RNA Expression

    Primary skin fibroblasts from four Niemann-Pick type C patients homozygous for the I1061T mutation and four control individuals were cultured under identical conditions in DMEM containing 10% fetal bovine serum. Cells were harvested at 50-70% confluency. mRNA was isolated with the FastTrack 2.…

    Authors: Reddy Jon

    Organization: Stanford Microarray Database (SMD) Stanf…
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Associated Researchers

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Thought leaders and organizations working on research involving storage disease.

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  • Janice Y Chou
  • Brian C Mansfield
  • Priya S Kishnani
  • David A Weinstein
  • Gregory A Grabowski
View All Clinical trial sponsors icon Clinical Trials Sponsors
  • Genzyme
  • Dickson, Patricia I., M.D.
  • Amicus Therapeutics
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • Baylor College of Medicine
View All Affiliations icon Organizations
  • National Institute of Child Health and Human Development
  • Duke University Medical Center
  • University of Oxford
  • Mayo Clinic and Foundation
  • University of Genova

Clinical Trials | 485 trials

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Community

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View All NextBio Users | 1 person
  • FARHAD MIRZAEI FARHAD  MIRZAEI

    Ph. D Scholar on Livestock Production & Management (LPM), DCB Division,

    National Dairy Research Institute, N.D.R.I

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