The role of saposin C in Gaucher disease (Q26862604)

Arash Velayati

series ordinal

2

1 reference

Ehud Goldin

series ordinal

3

1 reference

Ellen Sidransky

series ordinal

4

1 reference

language of work or name

1 reference

July 2012

1 reference

Molecular Genetics and Metabolism

published in

1 reference

volume

106

1 reference

issue

3

1 reference

page(s)

257-63

1 reference

Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S

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The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

21 March 2017

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The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin

21 March 2017

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Crystal structure of saposin B reveals a dimeric shell for lipid binding

21 March 2017

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Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

21 March 2017

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Saposin A: second cerebrosidase activator protein

7 January 2021

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Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect

21 March 2017

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Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases

21 March 2017

1 reference

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Crystal structures of human saposins C andD: implications for lipid recognition and membrane interactions

21 March 2017

1 reference

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Solution structure of human saposin C: pH-dependent interaction with phospholipid vesicles

21 March 2017

1 reference

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Saposins: structure, function, distribution, and molecular genetics

21 March 2017

1 reference

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A mutation in SCARB2 is a modifier in Gaucher disease

21 March 2017

1 reference

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Saposin D: a sphingomyelinase activator

21 March 2017

1 reference

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Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

21 March 2017

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Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

21 March 2017

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Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

21 March 2017

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Secretion of sphingolipid hydrolase activator precursor, prosaposin

21 March 2017

1 reference

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Saposin proteins: structure, function, and role in human lysosomal storage disorders

21 March 2017

1 reference

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Isolation and characterization of prosaposin from human milk

21 March 2017

1 reference

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Molecular chaperones in protein folding and proteostasis

21 March 2017

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Saposins utilize two strategies for lipid transfer and CD1 antigen presentation

7 April 2017

1 reference

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A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.

28 September 2017

1 reference

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X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

The immunological functions of saposins

28 September 2017

1 reference

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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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse

28 September 2017

1 reference

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

28 September 2017

1 reference

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Molecular imaging of membrane interfaces reveals mode of beta-glucosidase activation by saposin C.

28 September 2017

1 reference

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Pharmacologic chaperoning as a strategy to treat Gaucher disease

28 September 2017

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Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum

28 September 2017

1 reference

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The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Gaucher disease: complexity in a "simple" disorder

28 September 2017

1 reference

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Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

28 September 2017

1 reference

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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

28 September 2017

1 reference

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Role of prosaposin in the male reproductive system: effect of prosaposin inactivation on the testis, epididymis, prostate, and seminal vesicles

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Hydrops fetalis: lysosomal storage disorders in extremis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Identification of prosaposin as a neurotrophic factor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Identification of the binding and activating sites of the sphingolipid activator protein, saposin C, with glucocerebrosidase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Activator proteins and topology of lysosomal sphingolipid catabolism.

28 September 2017

1 reference

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Prosaposin: a myelinotrophic protein that promotes expression of myelin constituents and is secreted after nerve injury

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Lysosomal degradation on vesicular membrane surfaces. Enhanced glucosylceramide degradation by lysosomal anionic lipids and activators.

31 May 2018

1 reference

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A hydrophilic peptide comprising 18 amino acid residues of the prosaposin sequence has neurotrophic activity in vitro and in vivo.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534739

Role of sulfated glycoprotein-1 (SGP-1) in the disposal of residual bodies by Sertoli cells of the rat.

31 May 2018

1 reference

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Biochemical, immunological, and structural studies on a sphingolipid activator protein (SAP-1).

31 May 2018

1 reference

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In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease

31 May 2018

1 reference

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Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

31 May 2018

1 reference

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Sphingolipid hydrolase activator proteins and their precursors.

31 May 2018

1 reference

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Glucocerebrosidase: Stoichiometry of association between effector and catalytic proteins

31 May 2018

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Chronological changes in prosaposin in the developing rat brain.

31 May 2018

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Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

28 November 2018

1 reference

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Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

28 November 2018

1 reference

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Non-neuronopathic Gaucher disease due to saposin C deficiency.

28 November 2018

1 reference

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An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease

28 November 2018

1 reference

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Direct Visualization of Saposin Remodelling of Lipid Bilayers

28 November 2018

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Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

28 November 2018

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

28 November 2018

1 reference

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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

28 November 2018

1 reference

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A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

28 November 2018

1 reference

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Direct AFM observation of saposin C-induced membrane domains in lipid bilayers: from simple to complex lipid mixtures

28 November 2018

1 reference

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Neuropathology provides clues to the pathophysiology of Gaucher disease

28 November 2018

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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

28 November 2018

1 reference

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Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation

28 November 2018

1 reference

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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

28 November 2018

1 reference

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Phenotypic diversity, allelic series and modifier genes

28 November 2018

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Saposins and their interaction with lipids

28 November 2018

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Lysosomal proteolysis of prosaposin, the precursor of saposins (sphingolipid activator proteins): its mechanism and inhibition by ganglioside

7 January 2021

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Structural analysis of saposin C and B. Complete localization of disulfide bridges

7 January 2021

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Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

7 January 2021

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Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency

7 January 2021

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Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study

7 January 2021

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Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease

7 January 2021

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Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts

7 January 2021

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The precursor of sulfatide activator protein is processed to three different proteins

7 January 2021

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Conservation of expression and alternative splicing in the prosaposin gene

7 January 2021

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Trafficking of sulfated glycoprotein-1 (prosaposin) to lysosomes or to the extracellular space in rat Sertoli cells

7 January 2021

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Prosaposin sorting is mediated by oligomerization

7 January 2021

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Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant

7 January 2021

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pH-dependent conformational properties of saposins and their interactions with phospholipid membranes

7 January 2021

1 reference

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Relationship between the two immunologically distinguishable forms of glucocerebrosidase in tissue extracts

7 January 2021

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Further studies on the activation of glucocerebrosidase by a heat-stable factor from Gaucher spleen

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.024

Characterization of human saposins by NMR spectroscopy

7 January 2021

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Saposin C induces pH-dependent destabilization and fusion of phosphatidylserine-containing vesicles

7 January 2021

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Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

7 January 2021

1 reference

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Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy

7 January 2021

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Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

7 January 2021

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A mutation in CFTR produces different phenotypes depending on chromosomal background

7 January 2021

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Synthesis and processing of sphingolipid activator protein-2 (SAP-2) in cultured human fibroblasts

7 January 2021

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gaucher disease: Enzyme therapy in the acute neuronopathic variant

1 reference

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