(Q36639634)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

author name string

Kentarou Shirai

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Shinji Itamura

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Atsue Matsuda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Akiko Ishihara

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Kumi Matsushita

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Chisako Fukuda

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Norika Kubota

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Rumiko Takayama

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Hideo Shigematsu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Anri Hayashi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Tomohiro Kumada

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Kotaro Yuge

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yoriko Watanabe

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Saori Kosugi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Hiroshi Nishida

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yukiko Kimura

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yusuke Endo

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Katsumi Higaki

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Eiji Nanba

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yoko Nishimura

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Akiko Tamasaki

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Masami Togawa

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yoshiaki Saito

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yoshihiro Maegaki

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Kousaku Ohno

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yoshiyuki Suzuki

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

publication date

2 February 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

Annals of clinical and translational neurology

31 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

volume

3

1 reference

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31 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

page(s)

200-215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.

31 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Emerging novel concept of chaperone therapies for protein misfolding diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Revised recommendations for the management of Gaucher disease in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Phenotype, diagnosis, and treatment of Gaucher's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Clinical and genetic characteristics of Korean patients with Gaucher disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Neuropathology provides clues to the pathophysiology of Gaucher disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774255

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FACN3.292

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

21 January 2018

1 reference

12 December 2020

The Unified Myoclonus Rating Scale

1 reference

12 December 2020

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

1 reference

12 December 2020

Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination

1 reference

12 December 2020

Sphingosine inhibits the activity of rat liver CTP:phosphocholine cytidylyltransferase

1 reference

12 December 2020

Dose-dependent uricosuric effect of ambroxol

1 reference

12 December 2020

Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease

1 reference

12 December 2020

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

1 reference

12 December 2020

The functional independence measure: a new tool for rehabilitation

1 reference

12 December 2020

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

1 reference

12 December 2020

Identifiers

DOI

10.1002/ACN3.292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27042680%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

PubMed publication ID

27042680

1 reference