Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice (Q27300108)

2

Jan

Aten

1 reference

19 October 2023

Roelof Ottenhoff

3

Roelof

Ottenhoff

1 reference

19 October 2023

Cindy P A A van Roomen

4

Cindy P A A

van Roomen

1 reference

19 October 2023

Daniela Herrera Moro

5

Daniela

Herrera Moro

1 reference

19 October 2023

Nike Claessen

6

Nike

Claessen

1 reference

19 October 2023

María Fernanda Vinueza Veloz

7

María Fernanda

Vinueza Veloz

1 reference

19 October 2023

Kuikui Zhou

8

Kuikui

Zhou

1 reference

19 October 2023

Zhanmin Lin

9

Zhanmin

Lin

1 reference

19 October 2023

Mina Mirzaian

10

Mina

Mirzaian

1 reference

19 October 2023

Yildiz Yildiz

14

Yildiz

Yildiz

1 reference

19 October 2023

Johannes M F G Aerts

15

Johannes M F G

Creative Commons Attribution 4.0 International

Aerts

1 reference

19 October 2023

language of work or name

English

0 references

publication date

2015

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published in

PLOS One

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volume

10

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issue

8

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page(s)

e0135889

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copyright license

start time

14 August 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Niemann-Pick disease type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

A simple method for the isolation and purification of total lipides from animal tissues

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Cerebellar control of gait and interlimb coordination

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Glucocerebrosidase 2 gene deletion rescues 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=4537125

Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 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=4537125

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

The nonlysosomal β-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Spatiotemporal firing patterns in the cerebellum.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Cerebellar cortical organization: a one-map hypothesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type 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=4537125

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S 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=4537125

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for 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=4537125

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537125

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

31 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Novel activity-based probes for broad-spectrum profiling of retaining β-exoglucosidases in situ and in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Role of olivary electrical coupling in cerebellar motor learning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Critical role for glycosphingolipids in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

The role ofSCARB2as susceptibility factor in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0135889

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

1 reference

12 December 2020

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

1 reference

12 December 2020

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

1 reference

12 December 2020

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

1 reference

12 December 2020

Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0135889

Identifiers

DOI

1 reference

2089014

ADS bibcode

2015PLoSO..1035889M

0 references

2089014

1 reference

1 reference

1 reference