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

Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency.

Human molecular genetics - 6 Dec 2024

Hull Alexander J, Atilano Magda L, Hallqvist Jenny, Heywood Wendy, Kinghorn Kerri J

Abstract excerpt

Types A and B Niemann-Pick disease (NPD) are inherited multisystem lysosomal storage disorders due to mutations in the SMPD1 gene. Respiratory dysfunction is a key hallmark of NPD, yet the mechanism for this is underexplored. SMPD1 encodes acid sphingomyelinase (ASM), which hydrolyses sphingomyelin to ceramide and phosphocholine. Here, we present a Drosophila model of ASM loss-of-function, lacking the fly...

Read the complete abstract on PubMed

Topics

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

Share to Ceramides
Share to Drosophila
Share to Drosophila Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lysosomes

Share to Niemann-Pick Diseases

Share to Sphingolipids

Share to Sphingomyelin Phosphodiesterase

Share to Trachea

Source

Open in PubMed Open full text

Identifiers

PMID: 39402882
DOI: 10.1093/hmg/ddae143
PMCID: PMC11630749

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

Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency.PMID 39402882Read ↗

Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases.Semantic proximity Read ↗

Sply regulation of sphingolipid signaling molecules is essential for Drosophila development.Semantic proximity Read ↗

Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis DisordersSemantic proximity Read ↗

Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease.Semantic proximity Read ↗

SPNS1 is required for the transport of lysosphingolipids and lysoglycerophospholipids from lysosomesSemantic proximity Read ↗

A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline.Semantic proximity Read ↗

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout miceSemantic proximity Read ↗

Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.Semantic proximity Read ↗

Sphingolipids and Asthma.Semantic proximity Read ↗

Sphingosine kinase SPHK-1 maintains sphingolipid metabolism to protect lysosome membrane integrity in C. elegans.Semantic proximity Read ↗

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick diseaseSemantic proximity Read ↗

SMPD4 -mediated sphingolipid metabolism regulates brain and primary cilia developmentSemantic proximity Read ↗

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