Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies

29 Aug 2024

Abstract excerpt

Therapeutics that rescue folding, trafficking, and function of disease-causing missense mutants are sought for a host of human diseases, but efforts to leverage model systems to test emerging strategies have met with limited success. Such is the case for Niemann-Pick type C1 disease, a lysosomal disorder characterized by impaired intracellular cholesterol trafficking, progressive neurodegeneration, and early...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium signaling and nucleotide metabolism
Share to Cellular transport and secretion
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39207850
DOI: 10.1172/jci.insight.179525

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapiesPMID 39207850Read ↗

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1Semantic proximity Read ↗

Generation and characterization of human iPSC-derived <i> NPC1 <sup>I1061T/I10161T</sup> </i> i <sup>3</sup> Neurons as a model for NPC1 diseaseSemantic proximity Read ↗

Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site.Semantic proximity Read ↗

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.Semantic proximity Read ↗

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.Semantic proximity Read ↗

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.Semantic proximity Read ↗

Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease.Semantic proximity Read ↗

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and LocalizationSemantic proximity Read ↗

Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells.Semantic proximity Read ↗

Structure-activity relationships of oxysterol-derived pharmacological chaperones for Niemann-Pick type C1 protein.Semantic proximity Read ↗

Niemann-Pick Disease Type C: from molecule to clinic.Semantic proximity Read ↗

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.