Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227. (Q33213315)

24 July 2017

title

Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227. (English)

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24 July 2017

author name string

J Daniel Aroca-Aguilar

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24 July 2017

Francisco Sánchez-Sánchez

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24 July 2017

Sikha Ghosh

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24 July 2017

Miguel Coca-Prados

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24 July 2017

Julio Escribano

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24 July 2017

language of work or name

English

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publication date

28 March 2005

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Journal of Biological Chemistry

24 July 2017

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inferred from page(s)

published in

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24 July 2017

volume

280

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24 July 2017

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24 July 2017

page(s)

21043-21051

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Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

24 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Differential gene expression in the human ciliary epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Expression and characterization of the olfactomedin domain of human myocilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Recent advances in molecular genetics of glaucomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Transformation of human ciliary epithelial cells by simian virus 40: induction of cell proliferation and retention of beta 2-adrenergic receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Staining of proteins on gels: comparisons of dyes and procedures

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Rapid mass spectrometric identification of proteins from two-dimensional polyacrylamide gels after in gel proteolytic digestion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

The Pfam protein families database

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Perfusion with the Olfactomedin Domain of Myocilin Does Not Affect Outflow Facility

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

DomCut: prediction of inter-domain linker regions in amino acid sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Proteolytic processing in the secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Furin at the cutting edge: from protein traffic to embryogenesis and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M501340200

21 January 2018

Identifiers

DOI

10.1074/JBC.M501340200

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24 July 2017

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