(Q35111636)

6 August 2017

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title

Protein glycosylation in disease: new insights into the congenital muscular dystrophies (English)

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6 August 2017

0 references

1 reference

1 reference

https://api.crossref.org/works/10.1016/S0165-6147(03)00050-6

26 December 2023

author name string

Enca Martin-Rendon

series ordinal

1

1 reference

6 August 2017

Derek J. Blake

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707004

26 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12707004

26 December 2023

publication date

1 April 2003

1 reference

full work available at URL

6 August 2017

https://api.elsevier.com/content/article/PII:S0165614703000506?httpAccept=text/xml

1 reference

DOI

https://api.crossref.org/works/10.1016/S0165-6147(03)00050-6

https://api.elsevier.com/content/article/PII:S0165614703000506?httpAccept=text/plain

26 December 2023

1 reference

DOI

https://api.crossref.org/works/10.1016/S0165-6147(03)00050-6

Trends in Pharmacological Sciences

26 December 2023

published in

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6 August 2017

volume

24

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6 August 2017

issue

4

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6 August 2017

page(s)

178-183

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Glycoproteins: what are the sugar chains for?

6 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Biological roles of oligosaccharides: all of the theories are correct

1 reference

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7 January 2021

A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Notch signaling: Fringe really is a glycosyltransferase.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Fringe benefits to carbohydrates.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The dolichol pathway of N-linked glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The oligosaccharyltransferase complex from yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Concepts and principles of O-linked glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The pathology of N-glycosylation--stay the middle, avoid the risks

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The neurobiology of duchenne muscular dystrophy: learning lessons from muscle?

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Human brain malformations and their lessons for neuronal migration

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The complexities of dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Function and genetics of dystrophin and dystrophin-related proteins in muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

A stoichiometric complex of neurexins and dystroglycan in brain

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The fukutin protein family--predicted enzymes modifying cell-surface molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Structure/function studies of glycosyltransferases

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Three-dimensional structures of the Mn and Mg dTDP complexes of the family GT-2 glycosyltransferase SpsA: a comparison with related NDP-sugar glycosyltransferases

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Activity of the yeast MNN1 alpha-1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Functional requirements for fukutin-related protein in the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Donor substrate specificity of recombinant human blood group A, B and hybrid A/B glycosyltransferases expressed in Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Mutations in the rotated abdomen locus affect muscle development and reveal an intrinsic asymmetry in Drosophila.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Myodystrophy, a new myopathy on chromosome 8 of the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Acarbose for prevention of type 2 diabetes mellitus: the STOP-NIDDM randomised trial

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Viral vectors for gene transfer of micro-, mini-, or full-length dystrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Recombinant micro-genes and dystrophin viral vectors

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Muscle-derived stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Clonal isolation of muscle-derived cells capable of enhancing muscle regeneration and bone healing

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Dystrophin expression in the mdx mouse restored by stem cell transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Dissecting glycoprotein quality control in the secretory pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Novel repeats in ryanodine and IP3 receptors and protein O-mannosyltransferases

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900050-6

7 January 2021

Identifiers

DOI

1 reference

release_65g4ngie6rbx3debp3j3wck4wu

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/65g4ngie6rbx3debp3j3wck4wu

24 November 2022

mapped directly with Wikidata item

1 reference