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

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.

Human molecular genetics - 1 Aug 2008

Sun Ying, Witte David P, Ran Huimin, Zamzow Matt, Barnes Sonya, Cheng Hua, Han Xianlin, Williams Michael T, Skelton Matthew R, Vorhees Charles V, Grabowski Gregory A

Abstract excerpt

Saposin B derives from the multi-functional precursor, prosaposin, and functions as an activity enhancer for several glycosphingolipid (GSL) hydrolases. Mutations in saposin B present in humans with phenotypes resembling metachromatic leukodystrophy. To gain insight into saposin B's physiological functions, a specific deficiency was created in mice by a knock-in mutation of an essential cysteine in exon 7 of the...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Glucosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosphingolipids

Share to Homozygote

Share to Kidney

Share to Point Mutation

Share to Saposins

Share to Spinal Cord

Source

Open in PubMed Open full text

Identifiers

PMID: 18480170
DOI: 10.1093/hmg/ddn135
PMCID: PMC2465797

Genes

GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.PMID 18480170Read ↗

Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.Semantic proximity Read ↗

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.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 ↗

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.Semantic proximity Read ↗

Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).Semantic proximity Read ↗

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

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.Semantic proximity Read ↗

Seminolipid and its precursor/degradative product, galactosylalkylacylglycerol, in the testis of saposin A- and prosaposin-deficient mice.Semantic proximity Read ↗

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.Semantic proximity Read ↗

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.Semantic proximity Read ↗

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.Semantic proximity Read ↗

Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe diseaseSemantic proximity Read ↗

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