(Q39360277)

11 September 2017

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts (English)

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11 September 2017

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Massimo Aureli

1

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11 September 2017

Rosaria Bassi

2

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11 September 2017

Nicoletta Loberto

3

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11 September 2017

Stefano Regis

4

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11 September 2017

Alessandro Prinetti

5

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11 September 2017

Vanna Chigorno

6

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11 September 2017

Johannes M Aerts

7

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11 September 2017

Rolf G Boot

8

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11 September 2017

Mirella Filocamo

9

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11 September 2017

Sandro Sonnino

10

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11 September 2017

19 April 2012

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Journal of Inherited Metabolic Disease

11 September 2017

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11 September 2017

35

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11 September 2017

6

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11 September 2017

1081-1091

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https://scigraph.springernature.com/pub.10.1007/s10545-012-9478-x

11 September 2017

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cites work

Activity of plasma membrane beta-galactosidase and beta-glucosidase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Remodeling of sphingolipids by plasma membrane associated enzymes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Neobiosynthesis of glycosphingolipids by plasma membrane-associated glycosyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Identification of a family of animal sphingomyelin synthases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Plasma membrane-associated sialidase (NEU3) regulates progression of prostate cancer to androgen-independent growth through modulation of androgen receptor signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Signalling sphingomyelinases: which, where, how and why?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Glycosylation of glycolipids in the Golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

The plasma membrane-associated sialidase MmNEU3 modifies the ganglioside pattern of adjacent cells supporting its involvement in cell-to-cell interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Glucosylceramide modulates membrane traffic along the endocytic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Dynamic and structural properties of sphingolipids as driving forces for the formation of membrane domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Gangliosides as components of lipid membrane domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Fine tuning of cell functions through remodeling of glycosphingolipids by plasma membrane-associated glycohydrolases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Ceramide/sphingosine/sphingosine 1-phosphate metabolism on the cell surface and in the extracellular space

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Plasma membrane production of ceramide from ganglioside GM3 in human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Induction of axonal differentiation by silencing plasma membrane-associated sialidase Neu3 in neuroblastoma cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Common and uncommon pathogenic cascades in lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Glycosphingolipids--nature, function, and pharmacological modulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Participation of the nonreducing terminal beta-galactosyl residues of the neutral N-linked carbohydrate chains of porcine zona pellucida glycoproteins in sperm-egg binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9478-X

Cell surface sphingolipid glycohydrolases in neuronal differentiation and aging in culture

21 January 2018

1 reference

12 December 2020

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

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12 December 2020

Immunoquantification of beta-glucosidase: diagnosis and prediction of severity in Gaucher disease

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12 December 2020

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease

1 reference

12 December 2020

Free sphingosine formation from endogenous substrates by a liver plasma membrane system with a divalent cation dependence and a neutral pH optimum

1 reference

12 December 2020

Twin pairs showing discordance of phenotype in adult Gaucher's disease

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12 December 2020

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

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12 December 2020

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)

1 reference

12 December 2020

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

1 reference

12 December 2020

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

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12 December 2020

Occurrence of sialyltransferase activity in the synaptosomal membranes prepared from calf brain cortex

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12 December 2020

Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR

1 reference

12 December 2020

Identification of plasma membrane associated mature β-hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts

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12 December 2020

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

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12 December 2020

Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease

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12 December 2020

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease

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12 December 2020

A gene network regulating lysosomal biogenesis and function

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12 December 2020

Gaucher disease: from fundamental research to effective therapeutic interventions

1 reference

12 December 2020

10.1007/S10545-012-9478-X

Identifiers

DOI

1 reference

11 September 2017

1 reference