(Q38271576)

1 September 2017

Functional analysis of 11 novel GBA alleles (English)

1 reference

1 September 2017

Glucosylceramidase beta

1 reference

glucosylceramide catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Camillo Rosano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Rossella Parini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Stefania Zampieri

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Erika Malini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Serena Grossi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marta Deganuto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Silvia Dominisini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Roberta Cariati

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Bruno Bembi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Mirella Filocamo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Andrea Dardis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

11 September 2013

1 reference

European Journal of Human Genetics

1 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

511-516

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

13 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Gaucher disease paradigm: from ERAD to comorbidity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

The enigma of the E326K mutation in acid β-glucocerebrosidase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Coot: model-building tools for molecular graphics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

UCSF Chimera--a visualization system for exploratory research and analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

The human glucocerebrosidase gene and pseudogene: structure and evolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Lysosomal membrane glycoproteins. Structure, biosynthesis, and intracellular trafficking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Improved splice site detection in Genie

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Biosynthesis of the lysosomal enzyme glucocerebrosidase

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Standardizing mutation nomenclature: why bother?

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Human Gene Mutation Database (HGMD): 2003 update

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953908

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making

31 August 2018

1 reference

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

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

12 December 2020

Gaucher mutation N188S is associated with myoclonic epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

PubMed publication ID

24022302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24022302%20AND%20SRC:MED&resulttype=core&format=json