Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Feb 2016

Shin Daesung, Feltri M Laura, Wrabetz Lawrence

Abstract excerpt

Globoid cell leukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations in the lysosomal enzyme galactosylceramidase (GALC). Many GLD patients develop infantile-onset of progressive neurologic deterioration and death by 2 years of age, whereas others have a later-onset, milder disease. Cord blood transplant slows disease progression much more effectively when performed presymptomatically,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Galactosylceramidase

Share to HEK293 Cells

Share to Leukodystrophy, Globoid Cell

Share to Lymphocytes

Share to Lysosomes

Share to Plasmids

Source

Open in PubMed Open full text

Identifiers

PMID: 26865610
DOI: 10.1523/JNEUROSCI.3095-15.2016
PMCID: PMC4748072

Genes

GALC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.PMID 26865610Read ↗

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.Semantic proximity Read ↗

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.Semantic proximity Read ↗

Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.Semantic proximity Read ↗

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.Semantic proximity Read ↗

Molecular basis of late-life globoid cell leukodystrophy.Semantic proximity Read ↗

Expression study of Krabbe Disease <i>GALC</i> missense variants – Insights from quantification profiles of residual enzyme activity, secretion and psychosine levelsSemantic proximity Read ↗

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.Semantic proximity Read ↗

Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Semantic proximity Read ↗

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.Semantic proximity Read ↗

Characterization of the large deletion in the GALC gene found in patients with Krabbe diseaseSemantic proximity Read ↗

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

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.