Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes (Q49685437)

21 February 2018

title

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes (English)

1 reference

21 February 2018

author name string

Carmen Haro

1

1 reference

21 February 2018

Mary Luz Uribe

2

1 reference

21 February 2018

Cristina Quereda

3

1 reference

21 February 2018

Jesús Cruces

4

1 reference

21 February 2018

José Martín-Nieto

5

1 reference

21 February 2018

publication date

20 January 2018

1 reference

21 February 2018

published in

Molecular Vision

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21 February 2018

volume

24

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21 February 2018

page(s)

43-58

1 reference

21 February 2018

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5783743/fullTextXML

inferred from PubMed Central ID database lookup

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22 May 2018

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22 May 2018

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22 May 2018

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Functional requirements for fukutin-related protein in the Golgi apparatus

22 May 2018

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

22 May 2018

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Distribution of dystroglycan in normal adult mouse tissues

22 May 2018

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Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization

22 May 2018

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22 May 2018

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Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

22 May 2018

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Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

14 August 2018

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Rotenone induces degeneration of photoreceptors and impairs the dopaminergic system in the rat retina.

14 August 2018

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14 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Expression in the mammalian retina of parkin and UCH-L1, two components of the ubiquitin-proteasome system.

14 August 2018

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5783743

Dystroglycan expression in the wild type and mdx mouse neural retina: synaptic colocalization with dystrophin, dystrophin-related protein but not laminin

14 August 2018

1 reference

12 December 2020

Beta-dystroglycan localization in the photoreceptor and Müller cells in the rat retina revealed by immunoelectron microscopy

1 reference

12 December 2020

Biosynthesis of dystroglycan: processing of a precursor propeptide

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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 of genes related to muscular dystrophy with lissencephaly

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12 December 2020

Identifiers

PMC publication ID

5783743

1 reference

21 February 2018

PubMed publication ID

29416295

1 reference

21 February 2018