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Article

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

Journal of neuroscience research - 1 Aug 2010

Yoneshige Azusa, Suzuki Kinuko, Suzuki Kunihiko, Matsuda Junko

Abstract excerpt

Saposins A, B, C, and D are small amphiphatic glycoproteins that are encoded in tandem within a precursor protein (prosaposin, PSAP), and are required for in vivo degradation of sphingolipids. Humans with saposin C deficiency exhibit the clinical presentation of Gaucher-like disease. We generated two types of saposin C mutant mice, one carrying a homozygous missense mutation (C384S) in the saposin C domain of...

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Source

Identifiers

PMID: 20175216
DOI: 10.1002/jnr.22371

Genes

PSAP

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Related research

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Research trail→

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A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice.PMID 20175216Read ↗

Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout 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 ↗

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

Neurological deficits and glycosphingolipid accumulation in saposin B deficient 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 ↗

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

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

Non-neuronopathic Gaucher disease due to saposin C deficiency.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 ↗

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

A Saposin deficiency model in <i>Drosophila</i> : lysosomal storage, progressive neurodegeneration, sensory physiological decline and defective calcium homeostasisSemantic proximity Read ↗

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