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

[Disorders of sphingolipid activator proteins].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Suzuki Y

Abstract excerpt

Small-molecular nonenzymatic glycoproteins are necessary for degradation of sphingolipids in lysosomes. GM2 activator encoded by a gene on chromosome 5 is essential for hydrolysis of ganglioside GM2 and its asialo derivative. Mutations of this gene cause Tay-Sachs disease-like clinical phenotype (GM2-gangliosidosis AB variant). Another gene on chromosome 10 codes for a protein called prosaposin, which is then...

Read the complete abstract on PubMed

Topics

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

Share to Glycoproteins
Share to Lysosomes
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Protein Precursors

Share to G(M2) Ganglioside

Source

Identifiers

PMID: 8577053

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Disorders of sphingolipid activator proteins].PMID 8577053Read ↗

[Sphingolipid activator protein deficiency].Semantic proximity Read ↗

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

Recent advances in the biochemistry and genetics of sphingolipidoses.Semantic proximity Read ↗

Sphingolipid activator proteins.Semantic proximity Read ↗

[GM2 activator protein deficiency (AB variant form of GM2 gangliosidosis)].Semantic proximity Read ↗

A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice.Semantic proximity Read ↗

Saposins: structure, function, distribution, and molecular genetics.Semantic proximity Read ↗

Human genetic disorders of sphingolipid biosynthesis.Semantic proximity Read ↗

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

[Lysosomal diseases: an overview].Semantic proximity Read ↗

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

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

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