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

Transgenic rescue of Krabbe disease in the twitcher mouse.

Gene therapy - 1 Aug 2004

De Gasperi R, Friedrich V L, Perez G M, Senturk E, Wen P H, Kelley K, Elder G A, Gama Sosa M A

Abstract excerpt

The twitcher mouse is a natural model of Krabbe disease caused by galactocerebrosidase (GALC) deficiency. Previous attempts at rescuing the twitcher mouse by bone marrow transplantion, viral transduction, or transgenesis were only partially successful. Here, we report the transgenic (tg) rescue of the twitcher mouse with a BAC clone harboring the entire GALC. The twi/twi/hGALC tg mice exhibited growth, motor...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Artificial, Bacterial
Share to Cloning, Organism
Share to Galactosylceramidase

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

Share to Genetic Therapy

Share to Leukodystrophy, Globoid Cell

Share to Mice, Neurologic Mutants

Share to Transgenes

Share to Zygote

Source

Identifiers

PMID: 15164096
DOI: 10.1038/sj.gt.3302282

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

Transgenic rescue of Krabbe disease in the twitcher mouse.PMID 15164096Read ↗

Combined hematopoietic and lentiviral gene‐transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe diseaseSemantic proximity Read ↗

Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells.Semantic proximity Read ↗

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.Semantic proximity Read ↗

Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease).Semantic proximity Read ↗

The twitcher mouse: a model for Krabbe disease and for experimental therapies.Semantic proximity Read ↗

Intrathecal administration of AAV/GALC vectors in 10–11‐day‐old twitcher mice improves survival and is enhanced by bone marrow transplantSemantic proximity Read ↗

[Learning from the studies of twitcher mouse].Semantic proximity Read ↗

HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe diseaseSemantic proximity Read ↗

Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease.Semantic proximity Read ↗

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.Semantic proximity Read ↗

Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction.Semantic proximity Read ↗

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe DiseaseSemantic proximity Read ↗

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