Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis (Q34793236)

4 August 2017

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis (English)

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4 August 2017

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Junichiro Matsuda

1

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4 August 2017

Osamu Suzuki

2

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4 August 2017

Akihiro Oshima

3

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4 August 2017

Yoshie Yamamoto

4

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4 August 2017

Akira Noguchi

5

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4 August 2017

Kazuhiro Takimoto

6

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4 August 2017

Masayuki Itoh

7

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4 August 2017

Yuji Matsuzaki

8

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4 August 2017

Yosuke Yasuda

9

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4 August 2017

Seiichiro Ogawa

10

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4 August 2017

Yuko Sakata

11

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4 August 2017

Eiji Nanba

12

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4 August 2017

Katsumi Higaki

13

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4 August 2017

Yoshimi Ogawa

14

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4 August 2017

Lika Tominaga

15

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4 August 2017

Kousaku Ohno

16

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4 August 2017

Hiroyuki Iwasaki

17

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4 August 2017

Hiroshi Watanabe

18

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4 August 2017

Roscoe O Brady

19

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4 August 2017

Yoshiyuki Suzuki

20

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4 August 2017

language of work or name

English

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publication date

15 December 2003

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

4 August 2017

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4 August 2017

100

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4 August 2017

26

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4 August 2017

15912-15917

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Substrate reduction therapy in mouse models of the glycosphingolipidoses

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Chemical modification of the beta-glucocerebrosidase inhibitor N-octyl-beta-valienamine: synthesis and biological evaluation of 4-epimeric and 4-O-(beta-D-galactopyranosyl) derivatives

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Quantitative isolation of total glycosphingolipids from animal cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Bone marrow transplantation in canine GM1 gangliosidosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

An improved thin-layer chromatographic method for urinary oligosaccharide screening

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Development of lysosomal storage in mice with targeted disruption of the beta-galactosidase gene: a model of human G(M1)-gangliosidosis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Alpha-galactosidase transgenic mouse: heterogeneous gene expression and posttranslational glycosylation in tissues.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=307667

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

26 October 2018

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12 December 2020

Gangliosides of human, bovine, and rabbit plasma

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12 December 2020

The use of Sep-Pak C18 cartridges during the isolation of gangliosides

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12 December 2020

Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases

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12 December 2020

Chemical modification of beta-glucocerebrosidase inhibitor N-octyl-beta-valienamine: synthesis and biological evaluation of N-alkanoyl and N-alkyl derivatives

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.2536657100

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4 August 2017

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4 August 2017

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