Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Search Result Details

This page shows the details of why an item matched the keywords from your search.
One or more keywords matched the following items that are connected to Schaffer, Jean
Item TypeName
Concept Niemann-Pick Diseases
Concept Niemann-Pick Disease, Type C
Academic Article The steroidal analog GW707 activates the SREBP pathway through disruption of intracellular cholesterol trafficking.
Academic Article Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
Academic Article NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.
Academic Article Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease.
Academic Article The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol.
Academic Article A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
Academic Article A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
Academic Article Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).
Academic Article Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Academic Article N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
Academic Article A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid.
Academic Article 2-Hydroxypropyl-ß-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease.
Academic Article Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Academic Article Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.
Academic Article Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Academic Article Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function.
Academic Article Niemann-pick type C1 (NPC1) overexpression alters cellular cholesterol homeostasis.
Academic Article Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Search Criteria
  • Niemann Pick Diseases
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.