(Q37687674)

22 August 2017

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease (English)

1 reference

22 August 2017

1 reference

Pramod K Mistry

1

1 reference

22 August 2017

Jun Liu

2

1 reference

22 August 2017

Li Sun

3

1 reference

22 August 2017

Wei-Lien Chuang

4

1 reference

22 August 2017

Tony Yuen

5

1 reference

22 August 2017

Ruhua Yang

6

1 reference

22 August 2017

Ping Lu

7

1 reference

22 August 2017

Kate Zhang

8

1 reference

22 August 2017

Jianhua Li

9

1 reference

22 August 2017

Joan Keutzer

10

1 reference

22 August 2017

Agnes Stachnik

11

1 reference

22 August 2017

Albert Mennone

12

1 reference

22 August 2017

James L Boyer

13

1 reference

22 August 2017

Dhanpat Jain

14

1 reference

22 August 2017

Roscoe O Brady

15

1 reference

22 August 2017

Maria I New

16

1 reference

22 August 2017

Mone Zaidi

17

1 reference

22 August 2017

language of work or name

English

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publication date

17 March 2014

1 reference

Proceedings of the National Academy of Sciences of the United States of America

22 August 2017

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22 August 2017

111

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22 August 2017

13

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22 August 2017

4934-4939

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Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Osteoclast-specific cathepsin K deletion stimulates S1P-dependent bone formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Gaucher disease and other storage disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Gaucher disease: insights from a rare Mendelian disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Vitamin C prevents hypogonadal bone loss

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Gaucher disease gene GBA functions in immune regulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Benefits from unearthing "a biochemical Rosetta Stone".

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Effective cell and gene therapy in a murine model of Gaucher disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

FSH directly regulates bone mass

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Biologically active sphingolipids in cancer pathogenesis and treatment

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Pharmacology of the sphingosine-1-phosphate signalling system

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Markers of bone turnover in Gaucher disease: modeling the evolution of bone 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=3977292

Lysosomal lipid storage diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier 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=3977292

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3977292

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

23 June 2018

1 reference

12 December 2020

Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity

1 reference

12 December 2020

The synthetic pathway for glucosylsphingosine in cultured fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1400768111

1 reference

22 August 2017

0 references

1 reference

22 August 2017

PubMed publication ID

24639522

1 reference