Area of research
Physiology · Surgery
Research interest
Research interests include Lysosomal Storage Disorders Research, Cholesterol and Lipid Metabolism, Peroxisome Proliferator-Activated Receptors, and Autoimmune and Inflammatory Disorders Research.
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes
Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits
Seizure phenotype in <scp>CLN3</scp> disease and its relation to other neurologic outcome measures
Prevalence of Diabetes and Hypertension and Their Associated Risks for Poor Outcomes in Covid-19 Patients
Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1