(Q48104215)

English

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies

scientific article published on July 30, 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies (English)

1 reference

10.1093/HMG/DDQ314

https://api.crossref.org/works/10.1093/HMG/DDQ314

14 June 2024

animal muscular dystrophy

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

author name string

Yiumo Michael Chan

1

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Elizabeth Keramaris-Vrantsis

2

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Natalia Zinchenko

5

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Randy Thresher

7

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Jignya Ashar

9

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Jeffrey Rosenfeld

10

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Hart G. Lidov

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

James H. Norton

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

Helen E. Gruber

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

Derek J. Blake

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

Qi L. Lu

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20675713

14 June 2024

publication date

30 July 2010

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

full work available at URL

https://academic.oup.com/hmg/article-pdf/19/20/3995/13911041/ddq314.pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

http://hmg.oxfordjournals.org/cgi/content/abstract/19/20/3995

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675713

14 June 2024

http://academic.oup.com/hmg/article-pdf/19/20/3995/13911041/ddq314.pdf

Portable Document Format

1 reference

10.1093/HMG/DDQ314

https://api.crossref.org/works/10.1093/HMG/DDQ314

14 June 2024

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

19

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

20

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

3995-4006

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

A stoichiometric complex of neurexins and dystroglycan in brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Visual impairment in the absence of dystroglycan

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Congenital muscular dystrophies involving the O-mannose pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Molecular recognition by LARGE is essential for expression of functional dystroglycan

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Functional requirements for fukutin-related protein in the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Conditional control of gene expression in the mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Expression of alpha7beta1 integrin splicing variants during skeletal muscle regeneration.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Mutations alter secretion of fukutin-related protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ314

21 January 2018

Electron microscopic evidence for a mucin-like region in chick muscle alpha-dystroglycan

14

1 reference

10.1093/HMG/DDQ314

https://api.crossref.org/works/10.1093/HMG/DDQ314

14 June 2024

Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy

15

1 reference

10.1093/HMG/DDQ314

https://api.crossref.org/works/10.1093/HMG/DDQ314

14 June 2024

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

27

1 reference

10.1093/HMG/DDQ314

https://api.crossref.org/works/10.1093/HMG/DDQ314

14 June 2024

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

57

1 reference

10.1093/HMG/DDQ314

https://api.crossref.org/works/10.1093/HMG/DDQ314

14 June 2024

Identifiers

10.1093/HMG/DDQ314

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/20675713

ResearchGate publication ID

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