Critical role for glycosphingolipids in Niemann-Pick disease type
Por um escritor misterioso
Last updated 02 abril 2025


Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease

Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder

Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells

Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling - ScienceDirect

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

Lipid trafficking defects in Niemann-Pick type C disease

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

Metabolic disease - Lipid Disorders, Cholesterol, Triglycerides

Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library
Characterization of Glycosphingolipids and Their Diverse Lipid Forms through Two-Stage Matching of LC-MS/MS Spectra

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Natural history and management of liver dysfunction in lysosomal storage disorders

Advancements in Niemann-Pick Disease Type C Treatments
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