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

Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease.

Brain research - 15 Oct 2016

Schultz Mark L, Krus Kelsey L, Lieberman Andrew P

Abstract excerpt

Lysosomal storage diseases result from inherited deficiencies of lysosomal hydrolytic activities or lipid transport. Collectively, these disorders are a common cause of morbidity in the pediatric population and are often associated with severe neurodegeneration. Among this group of diseases is Niemann-Pick type C, an autosomal recessive disorder of lipid trafficking that causes cognitive impairment, ataxia and...

Read the complete abstract on PubMed

Topics

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

Share to Autophagy
Share to Endoplasmic Reticulum
Share to Histone Deacetylase Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HSP70 Heat-Shock Proteins

Share to Lysosomes

Share to Molecular Chaperones

Share to Niemann-Pick C1 Protein

Share to Niemann-Pick Disease, Type C

Source

Open in PubMed Open full text

Identifiers

PMID: 27026653
DOI: 10.1016/j.brainres.2016.03.035
PMCID: PMC5542880

Genes

NPC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease.PMID 27026653Read ↗

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

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?Semantic proximity Read ↗

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

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

Complex lipid trafficking in Niemann-Pick disease type C.Semantic proximity Read ↗

Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.Semantic proximity Read ↗

NPC1-mTORC1 signaling Couples Cholesterol Sensing to Organelle Homeostasis and is a Targetable Pathway in Niemann-Pick type CSemantic proximity Read ↗

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions.Semantic proximity Read ↗

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

Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders.Semantic proximity Read ↗

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches.Semantic proximity Read ↗

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.Semantic proximity Read ↗

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