(Q24632809)

English

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

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scholarly article

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

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molecular chaperones

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1 reference

based on heuristic

inferred from title

author name string

Wing C Lee

1

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Dongcheul Kang

2

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Ena Causevic

3

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Aimee R Herdt

4

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Elizabeth A Eckman

5

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Christopher B Eckman

6

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language of work or name

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publication date

21 April 2010

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Journal of Neuroscience

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30

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16

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5489-97

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Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

Krabbe disease: genetic aspects and progress toward therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

Molecular heterogeneity of Krabbe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

7 April 2017

Psychosine accumulates in membrane microdomains in the brain of krabbe patients, disrupting the raft architecture.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Temperature sensitive secretion of mutant myocilins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Natural product extracts that reduce accumulation of the Alzheimer's amyloid beta peptide: selective reduction in A beta42.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

The twitcher mouse. An alteration of the unmyelinated fibers in the PNS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

A practical chromogenic procedure for the diagnosis of Krabbe's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Lines of murine oligodendroglial precursor cells immortalized by an activated neu tyrosine kinase show distinct degrees of interaction with axons in vitro and in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

The twitcher mouse: degeneration of oligodendrocytes in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

27 September 2017

Expression and processing of recombinant human galactosylceramidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

30 May 2018

Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

30 May 2018

The twitcher mouse: accumulation of galactosylsphingosine and pathology of the sciatic nerve.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

30 May 2018

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

30 May 2018

Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

Protracted course of Krabbe disease in an adult patient bearing a novel mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

Surface amino acids as sites of temperature-sensitive folding mutations in the P22 tailspike protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278277

28 November 2018

[Demyelination and leukodystrophy at an early age]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactocerebrosidase from human urine: purification and partial characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20410102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.6383-09.2010

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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