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

α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jan 2019

Miller James J, Aoki Kazuhiro, Mascari Carly A, Beltrame Angela K, Sokumbi Olayemi, North Paula E, Tiemeyer Michael, Kriegel Alison J, Dahms Nancy M

Abstract excerpt

Fabry disease is an X-linked lysosomal storage disease caused by α-galactosidase A (α-Gal A) deficiency. Kidney and heart failure are frequent complications in adulthood and greatly contribute to patient morbidity and mortality. Because α-Gal A-deficient mouse models do not recapitulate cardiorenal findings observed in patients, a nonmouse model may be beneficial to our understanding of disease pathogenesis. In...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Galactosidase
Share to Fabry Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Knockout Techniques

Share to Glycosphingolipids

Share to Kidney Tubules, Proximal

Share to Renal Insufficiency

Share to Ventricular Dysfunction, Left

Source

Open in PubMed Open full text

Identifiers

PMID: 29979634
DOI: 10.1096/fj.201800771R
PMCID: PMC6629127

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease.PMID 29979634Read ↗

Sex differences in alpha galactosidase protein processing and its impact on disease severity in Fabry diseaseSemantic proximity Read ↗

Fabry disease.Semantic proximity Read ↗

Fabry disease.Semantic proximity Read ↗

Fabry diseaseSemantic proximity Read ↗

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.Semantic proximity Read ↗

Fabry disease: Mechanism and therapeutics strategiesSemantic proximity Read ↗

α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease.Semantic proximity Read ↗

Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.Semantic proximity Read ↗

Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.Semantic proximity Read ↗

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.Semantic proximity Read ↗

[Multidisciplinary treatment in the long-term management of Fabry disease].Semantic proximity Read ↗

Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.Semantic proximity Read ↗

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