(Q40569319)

21 September 2017

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

1 reference

21 September 2017

Yuhui Liu

1

1 reference

PubMed ID

15069026

21 September 2017

Douglas Vollrath

series ordinal

2

1 reference

21 September 2017

6 April 2004

1 reference

21 September 2017

Human Molecular Genetics

1 reference

21 September 2017

13

1 reference

21 September 2017

11

1 reference

21 September 2017

1193-1204

1 reference

Number of people with glaucoma worldwide

21 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

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/10.1093%2FHMG%2FDDH128

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

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/10.1093%2FHMG%2FDDH128

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/10.1093%2FHMG%2FDDH128

Myocilin and glaucoma: facts and ideas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Amassin, an olfactomedin protein, mediates the massive intercellular adhesion of sea urchin coelomocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Genetic dissection of myocilin glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

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/10.1093%2FHMG%2FDDH128

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/10.1093%2FHMG%2FDDH128

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

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/10.1093%2FHMG%2FDDH128

Aggregates in neurodegenerative disease: crowds and power?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Quality control in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Aggresomes and Russell bodies. Symptoms of cellular indigestion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Impairment of the ubiquitin-proteasome system by protein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Diffusible, nonfibrillar ligands derived from Abeta1-42 are potent central nervous system neurotoxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Aggresomes: a cellular response to misfolded proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Immunofluorescence method for quantifying the trabecular meshwork glucocorticoid response (TIGR) protein in trabecular meshwork and Schlemm's canal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Folding proteins in fatal ways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Activation of a tissue-specific stress response in the aqueous outflow pathway of the eye defines the glaucoma disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Caspase-12 mediates endoplasmic-reticulum-specific apoptosis and cytotoxicity by amyloid-beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Rapid degradation of a large fraction of newly synthesized proteins by proteasomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Protein folding stability can determine the efficiency of escape from endoplasmic reticulum quality control.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Is green fluorescent protein toxic to the living cells?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Reporter gene transfer induces apoptosis in primary cortical neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Correcting temperature-sensitive protein folding defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Therapeutic approaches to protein-misfolding diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Regulation of TIGR/MYOC gene expression in human trabecular meshwork cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

A new technique for the assay of infectivity of human adenovirus 5 DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

Mertk triggers uptake of photoreceptor outer segments during phagocytosis by cultured retinal pigment epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH128

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH128

1 reference

21 September 2017

1 reference

PubMed ID

15069026