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

Recent advances in the biochemistry and genetics of sphingolipidoses.

Brain & development - 1 Dec 2004

Ozkara Hatice Asuman

Abstract excerpt

Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined as disorders caused by a genetic defect in catabolism of sphingosine-containing lipids. Catabolism of these lipids involves enzymes and activator proteins. After the discovery of lysosomes by de Duve and the demonstra...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Disease Models, Animal
Share to Enzyme Activators

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enzymes

Share to Genotype

Share to Glycosphingolipids

Share to Lysosomes

Source

Identifiers

PMID: 15533650
DOI: 10.1016/j.braindev.2004.01.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15533650-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recent advances in the biochemistry and genetics of sphingolipidoses.PMID 15533650Read ↗

The genetics of sphingolipid hydrolases and sphingolipid storage diseases.Semantic proximity Read ↗

Mysterious sphingolipids: metabolic interrelationships at the center of pathophysiologySemantic proximity Read ↗

Genetic diseases of sphingolipid metabolism: Pathological mechanisms and therapeutic optionsSemantic proximity Read ↗

Genetic defects in the sphingolipid degradation pathway and their effects on microglia in neurodegenerative disease.Semantic proximity Read ↗

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

Sphingolipid lysosomal storage disordersSemantic proximity Read ↗

The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolismSemantic proximity Read ↗

[Disorders of sphingolipid activator proteins].Semantic proximity Read ↗

Lysosomal storage disorders: old diseases, present and future challenges.Semantic proximity Read ↗

Human genetic disorders of sphingolipid biosynthesis.Semantic proximity Read ↗

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

Lysosomal diseases: biochemical pathways and investigations.Semantic proximity Read ↗

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