(Q57478284)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

title

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

0 references

0 references

Glucosylceramidase beta 2

1 reference

glucosylceramide catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Kyproula Christodoulou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

author name string

Anna Malekkou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Maura Samarani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Anthi Drousiotou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Christina Votsi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Sandro Sonnino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Marios Pantzaris

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Eleni Zamba-Papanicolaou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Massimo Aureli

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

Nicoletta Loberto

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

language of work or name

English

0 references

publication date

10 October 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Molecular Sciences

27 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

27 April 2020

page(s)

3099

0 references

copyright license

start time

10 October 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

GBA2-encoded β-glucosidase activity is involved in the inflammatory response to Pseudomonas aeruginosa.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Mining the genome for lipid genes

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

A novel GBA2 gene missense mutation in spastic ataxia.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Ionizing radiations increase the activity of the cell surface glycohydrolases and the plasma membrane ceramide content.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Plasma membrane-associated glycohydrolases activation by extracellular acidification due to proton exchangers.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Sphingolipid and glycosphingolipid metabolic pathways in the era of sphingolipidomics

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Remodeling of sphingolipids by plasma membrane associated enzymes.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

A new archaeal beta-glycosidase from Sulfolobus solfataricus: seeding a novel retaining beta-glycan-specific glycoside hydrolase family along with the human non-lysosomal glucosylceramidase GBA2

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Comprehensive quantitative analysis of bioactive sphingolipids by high-performance liquid chromatography-tandem mass spectrometry

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Activity of plasma membrane beta-galactosidase and beta-glucosidase

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Covalent inhibitors of glycosidases and their applications in biochemistry and biology

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Transport processes in magnetically confined plasmas in the nonlinear regime.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Molecular cloning and expression of human bile acid beta-glucosidase

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Intestinal lactase-phlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

Glucosylceramide is synthesized at the cytosolic surface of various Golgi subfractions

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6213336

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

30 November 2018

1 reference

12 December 2020

Mechanism of hydrolysis of adenosinetriphosphate catalyzed by lobster muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

Accumulation of Glucosylceramide in Murine Testis, Caused by Inhibition of β-Glucosidase 2

1 reference

12 December 2020

Cell surface sphingolipid glycohydrolases in neuronal differentiation and aging in culture

1 reference

12 December 2020

Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration

1 reference

12 December 2020

TFEB activation promotes the recruitment of lysosomal glycohydrolases β-hexosaminidase and β-galactosidase to the plasma membrane

1 reference

12 December 2020

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

1 reference

12 December 2020

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS19103099

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30308956%20AND%20SRC:MED&resulttype=core&format=json

27 April 2020

PubMed publication ID

30308956

1 reference