(Q48911848)

16 February 2018

http://europepmc.org/abstract/MED/21900571

title

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

1 reference

16 February 2018

http://europepmc.org/abstract/MED/21900571

author

Sue Brown

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

Ulrike Mayer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

author name string

Mark R Ackroyd

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

Charlotte Whitmore

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

Sarah Prior

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

Manuja Kaluarachchi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

Margareta Nikolic

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

Francesco Muntoni

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

language of work or name

English

0 references

publication date

1 September 2011

1 reference

16 February 2018

http://europepmc.org/abstract/MED/21900571

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

issue

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

page(s)

12927-12935

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy

15 May 2020

cites work

1 reference

12 December 2020

Synergistic activities of alpha3 and alpha6 integrins are required during apical ectodermal ridge formation and organogenesis in the mouse

1 reference

12 December 2020

Perlecan maintains the integrity of cartilage and some basement membranes

1 reference

12 December 2020

Altered synthesis of laminin 1 and absence of basement membrane component deposition in (beta)1 integrin-deficient embryoid bodies

1 reference

12 December 2020

Tbr1 regulates differentiation of the preplate and layer 6.

1 reference

12 December 2020

A stoichiometric complex of neurexins and dystroglycan in brain

1 reference

12 December 2020

Beta1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

12 December 2020

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

12 December 2020

Expression and distribution of laminin alpha1 and alpha2 chains in embryonic and adult mouse tissues: an immunochemical approach

1 reference

12 December 2020

Specific ablation of the nidogen-binding site in the laminin gamma1 chain interferes with kidney and lung development.

1 reference

12 December 2020

Smooth, rough and upside-down neocortical development

1 reference

12 December 2020

Matrix assembly, regulation, and survival functions of laminin and its receptors in embryonic stem cell differentiation

1 reference

12 December 2020

A critical function of the pial basement membrane in cortical histogenesis.

1 reference

12 December 2020

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

1 reference

12 December 2020

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

1 reference

12 December 2020

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

12 December 2020

Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy

1 reference

12 December 2020

Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

1 reference

12 December 2020

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy

1 reference

12 December 2020

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

1 reference

12 December 2020

FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies

1 reference

12 December 2020

Loss of basement membrane, receptor and cytoskeletal lattices in a laminin-deficient muscular dystrophy

1 reference

12 December 2020

Basement membrane assembly, stability and activities observed through a developmental lens.

1 reference

12 December 2020

Defective glycosylation in congenital muscular dystrophies

1 reference

12 December 2020

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

1 reference

12 December 2020

CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis

1 reference

12 December 2020

Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

1 reference

12 December 2020

Basement membrane-dependent survival of retinal ganglion cells

1 reference

12 December 2020

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

1 reference

12 December 2020

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

1 reference

12 December 2020

Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly.

1 reference

12 December 2020

Monoclonal antibodies against laminin A chain fragment E3 and their effects on binding to cells and proteoglycan and on kidney development

1 reference

12 December 2020

Dystroglycan: from biosynthesis to pathogenesis of human disease.

1 reference

12 December 2020

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

1 reference

12 December 2020

Brain alpha-dystroglycan displays unique glycoepitopes and preferential binding to laminin-10/11

1 reference

12 December 2020

Basement membrane attachment is dispensable for radial glial cell fate and for proliferation, but affects positioning of neuronal subtypes.

1 reference

12 December 2020

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

1 reference

12 December 2020

Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease

1 reference

12 December 2020

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

1 reference

12 December 2020

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

1 reference

12 December 2020

Origin and turnover of ECM proteins from the inner limiting membrane and vitreous body

1 reference

12 December 2020

Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation

1 reference

12 December 2020

Muscular dystrophies due to defective glycosylation of dystroglycan

1 reference

12 December 2020

Muscular dystrophies due to glycosylation defects

1 reference

12 December 2020

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

1 reference

12 December 2020

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

1 reference

12 December 2020

Developmental and pathogenic mechanisms of basement membrane assembly

1 reference

12 December 2020

Regulation of radial glial survival by signals from the meninges.

1 reference

12 December 2020

Abnormal glycosylation of dystroglycan in human genetic disease

1 reference

12 December 2020

Defective formation of the inner limiting membrane in laminin beta2- and gamma3-null mice produces retinal dysplasia

1 reference

12 December 2020

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

1 reference

12 December 2020

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

1 reference

12 December 2020

1 reference

12 December 2020

TBR1 directly represses Fezf2 to control the laminar origin and development of the corticospinal tract

1 reference

12 December 2020

Extracellular matrix and neuronal movement

1 reference

12 December 2020

Non-muscle alpha-dystroglycan is involved in epithelial development

1 reference

12 December 2020

Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: a heteromeric complex related to the dystroglycans

1 reference

12 December 2020

A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

1 reference

12 December 2020

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

1 reference

12 December 2020

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

1 reference

12 December 2020

Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

1 reference

12 December 2020

Essential role of alpha 6 integrins in cortical and retinal lamination.

1 reference

12 December 2020

The relationship between perlecan and dystroglycan and its implication in the formation of the neuromuscular junction.

1 reference

12 December 2020

A role for dystroglycan in basement membrane assembly

1 reference

12 December 2020

Analysis of the role of dystroglycan in early postimplantation mouse development

1 reference

12 December 2020

10.1523/JNEUROSCI.2301-11.2011

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6623409&resulttype=core&format=json

15 May 2020

1 reference