×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
25265039 2014
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
24252386 2014
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
24252386 2014
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.
24913062 2014
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Stem cell transplantation for adult-onset krabbe disease: report of a case.
23430802 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
A high-throughput screening assay using Krabbe disease patient cells.
23138179 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.
24297913 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
23197103 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Cost-effective and scalable DNA extraction method from dried blood spots.
23509109 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease : one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient.
23462331 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
23620143 2013
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Child Neurology: Krabbe disease: a potentially treatable white matter disorder.
23128445 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.
22704718 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
23319190 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
22115770 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Later onset phenotypes of Krabbe disease: results of the world-wide registry.
22520351 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
23319190 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Later onset phenotypes of Krabbe disease: results of the world-wide registry.
22520351 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
22115770 2012
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Insights into Krabbe disease from structures of galactocerebrosidase.
21876145 2011
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Insights into Krabbe disease from structures of galactocerebrosidase.
21876145 2011
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
21824559 2011
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
21824559 2011
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
This study, reporting one of the largest genotype-phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian GALC mutational profile differs significantly from other populations of European origin.
20886637 2010
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.
20410102 2010