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

Fukutin-related protein alters the deposition of laminin in the eye and brain.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 7 Sept 2011

Ackroyd Mark R, Whitmore Charlotte, Prior Sarah, Kaluarachchi Manuja, Nikolic Margareta, Mayer Ulrike, Muntoni Francesco, Brown Susan C

Abstract excerpt

Mutations in fukutin-related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement. The defining feature of this group of disorders is the hypoglycosylation of α-dystroglycan and its inability to effectively bind extracellular matrix ligands such as laminin α2....

Read the complete abstract on PubMed

Topics

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

Share to Basement Membrane
Share to Brain Chemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystroglycans

Share to Ki-67 Antigen

Share to Laminin

Share to Pentosyltransferases

Share to Transferases

Source

Open in PubMed Open full text

Identifiers

PMID: 21900571
DOI: 10.1523/JNEUROSCI.2301-11.2011
PMCID: PMC6623409

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fukutin-related protein alters the deposition of laminin in the eye and brain.PMID 21900571Read ↗

Functional implications of Fkrp deficiencySemantic proximity Read ↗

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.Semantic proximity Read ↗

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)Semantic proximity Read ↗

Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Semantic proximity Read ↗

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.Semantic proximity Read ↗

Basement membrane fragility underlies embryonic lethality in fukutin-null mice.Semantic proximity Read ↗

β2 and γ3 laminins are critical cortical basement membrane components: Ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasiaSemantic proximity Read ↗

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.Semantic proximity Read ↗

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.Semantic proximity Read ↗

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.Semantic proximity Read ↗

A missense mutation (C667F) in β-dystroglycan results in reduced dystroglycan protein levels leading to myopathy and destabilization of the blood-brain and blood-retinal barrier protein networkSemantic proximity Read ↗

Laminin Polymerization and Inherited Disease: Lessons From GeneticsSemantic proximity Read ↗

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