Article

HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type C

2026-06-02

Abstract excerpt

Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder comprising two clinically indistinguishable but genetically distinct subtypes caused by mutations in NPC1 , or NPC2 . The specific impact of each deficiency on cellular homeostasis remains poorly defined due to the phenotypic heterogeneity of patient-derived models and a lack of isogenic platforms for comparative study. Here we estab...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b22d0b21-3e38-59cc-a18a-ef1d3782b040
DOI: 10.64898/2026.06.01.729255

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type CDOI 10.64898/2026.06.01.729255Read

N-Acetyl-l-Leucine (NALL) rescues inter-organelle communication in Niemann-Pick disease type-C patient cellsSemantic proximity Read

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

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

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C.Semantic proximity Read

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

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.Semantic proximity Read

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

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

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

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