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

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics

14 Jul 2021

Abstract excerpt

The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and premature death. The timing and severity of NPC1 clinical presentation is extremely heterogeneous. This study analyzed RNA-Seq data from 42 NPC1...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune and Inflammatory Disorders Research
Share to Cytomegalovirus and herpesvirus research
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34296265
DOI: 10.1093/hmg/ddab194

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeuticsPMID 34296265Read ↗

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expressionSemantic proximity Read ↗

Genomic Modifiers of Neurological Resilience in a Niemann-Pick C familySemantic proximity Read ↗

Clues to Neuro-Degeneration in Niemann-Pick Type C Disease from Global Gene Expression ProfilingSemantic proximity Read ↗

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicineSemantic proximity Read ↗

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1Semantic proximity Read ↗

HPGCD Outperforms HPBCD as a Potential Treatment for Niemann-Pick Disease Type C During Disease Modeling with iPS CellsSemantic proximity Read ↗

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

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1Semantic proximity Read ↗

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study Semantic proximity Read ↗

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.Semantic proximity Read ↗

NPC1 deficiency engages a lysosome–genome–immune program linked to neurodegeneration and cellular aging signaturesSemantic proximity Read ↗

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