(Q53251808)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21520340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency (English)

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29 January 2020

0 references

1 reference

3

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29 January 2020

author name string

Katsumi Higaki

1

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29 January 2020

Linjing Li

2

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29 January 2020

Soichiro Okuzawa

4

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29 January 2020

Ayumi Takamuram

5

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29 January 2020

Koichi Yamamoto

6

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29 January 2020

Kaori Adachi

7

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29 January 2020

Rubigilda C Paraguison

8

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29 January 2020

Tomoko Takai

9

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29 January 2020

Hiroki Ikehata

10

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29 January 2020

Lika Tominaga

11

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29 January 2020

Ichiro Hisatome

12

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29 January 2020

Masami Iida

13

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29 January 2020

Seiichiro Ogawa

14

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29 January 2020

Junichiro Matsuda

15

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29 January 2020

Haruaki Ninomiya

16

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29 January 2020

Yasubumi Sakakibara

17

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29 January 2020

Kousaku Ohno

18

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29 January 2020

Yoshiyuki Suzuki

19

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29 January 2020

Eiji Nanba

20

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29 January 2020

publication date

1 July 2011

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29 January 2020

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29 January 2020

volume

32

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29 January 2020

issue

7

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29 January 2020

page(s)

843-852

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Enzyme-replacement therapy for metabolic storage disorders

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

21 January 2018

1 reference

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Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

21 January 2018

1 reference

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

21 January 2018

1 reference

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DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase

21 January 2018

1 reference

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Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

21 January 2018

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Structural basis for sorting mechanism of p62 in selective autophagy

21 January 2018

1 reference

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Fibroblast screening for chaperone therapy in beta-galactosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

21 January 2018

1 reference

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Structural aspects of therapeutic enzymes to treat metabolic disorders

21 January 2018

1 reference

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Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice

21 January 2018

1 reference

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Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

21 January 2018

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Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

21 January 2018

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Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21516

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21516

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

21 January 2018

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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

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Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Localization of atypical protein kinase C isoforms into lysosome-targeted endosomes through interaction with p62.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

A block of autophagy in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

Distinct endosomal compartments in early trafficking of low density lipoprotein-derived cholesterol

21 January 2018

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Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis.

21 January 2018

1 reference

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Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

21 January 2018

1 reference

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Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer

21 January 2018

1 reference

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

21 January 2018

1 reference

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7 January 2021

N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

7 January 2021

A homology model for human alpha-l-iduronidase: insights into human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21516

7 January 2021

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

1 reference

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7 January 2021

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21516

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21520340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference