(Q34471337)

2 August 2017

title

A high-throughput screening assay using Krabbe disease patient cells (English)

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2 August 2017

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4

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2 August 2017

8

Gustavo H B Maegawa

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2 August 2017

Jameson Ribbens

1

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2 August 2017

Grace Whiteley

2

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2 August 2017

Hirokazu Furuya

3

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2 August 2017

Xin Hu

5

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2 August 2017

Juan Marugan

6

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2 August 2017

Marc Ferrer

7

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2 August 2017

language of work or name

English

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publication date

5 November 2012

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2 August 2017

published in

Analytical Biochemistry

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2 August 2017

volume

434

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2 August 2017

issue

1

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2 August 2017

page(s)

15-25

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Pharmacological chaperone therapy for Fabry disease

2 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Insights into Krabbe disease from structures of galactocerebrosidase

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

6 July 2018

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

6 July 2018

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Chemical and biological approaches synergize to ameliorate protein-folding diseases.

6 July 2018

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Enzyme reconstitution/replacement therapy for lysosomal storage diseases

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Quantitative high-throughput screening: a titration-based approach that efficiently identifies biological activities in large chemical libraries

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

A Simple Statistical Parameter for Use in Evaluation and Validation of High Throughput Screening Assays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

The use of galactosylceramides with uniform fatty acids as substrates in the diagnosis and carrier detection of Krabbe disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

6 July 2018

1 reference

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Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3975245

Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology

27 October 2018

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12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

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12 December 2020

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel

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12 December 2020

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis

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12 December 2020

Identifiers

DOI

10.1016/J.AB.2012.10.034

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2 August 2017

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2 August 2017

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