4.8 Review

Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Ophthalmology

The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma

Viney Gupta et al.

Summary: The study aimed to assess the relative prevalence of MYOC mutations in familial versus sporadic cases of JOAG. Results showed a significantly higher frequency of MYOC mutations in familial cases compared to sporadic JOAG cases, suggesting that genetic screening should focus more on familial cases.
Article Multidisciplinary Sciences

Mechanical stretch induces Ca2+ influx and extracellular release of PGE2 through Piezo1 activation in trabecular meshwork cells

Takatoshi Uchida et al.

Summary: The study found that Piezo1 is abundantly expressed in the trabecular meshwork and can regulate trabecular meshwork cell contraction by modulating Ca2+ influx and release of arachidonic acid and PGE(2). This suggests that Piezo1 could act as a regulator to control intraocular pressure.

SCIENTIFIC REPORTS (2021)

Review Clinical Neurology

The genetic architecture of Parkinson's disease

Cornelis Blauwendraat et al.

LANCET NEUROLOGY (2020)

Review Biochemistry & Molecular Biology

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

Ludovica Liguori et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

Differential Misfolding Properties of Glaucoma-Associated Olfactomedin Domains from Humans and Mice

Athena C. Patterson-Orazem et al.

BIOCHEMISTRY (2019)

Review Clinical Neurology

Genetics of amyotrophic lateral sclerosis: A review

Stephane Mathis et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)

Article Biochemical Research Methods

Calcium-ligand variants of the myocilin olfactomedin propeller selected from invertebrate phyla reveal cross-talk with N-terminal blade and surface helices

Shannon E. Hill et al.

ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2019)

Review Medicine, Research & Experimental

Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review)

Hongwei Wang et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2019)

Article Biochemistry & Molecular Biology

Trifunctional High-Throughput Screen Identifies Promising Scaffold To Inhibit Grp94 and Treat Myocilin-Associated Glaucoma

Dustin J. E. Huard et al.

ACS CHEMICAL BIOLOGY (2018)

Review Neurosciences

Anti-Amyloid-β Monoclonal Antibodies for Alzheimer's Disease: Pitfalls and Promise

Christopher H. van Dyck

BIOLOGICAL PSYCHIATRY (2018)

Article Ophthalmology

Consensus recommendations for trabecular meshwork cell isolation, characterization and culture

Kate E. Keller et al.

EXPERIMENTAL EYE RESEARCH (2018)

Article Ophthalmology

Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye

Carly J. van der Heide et al.

OPHTHALMOLOGY GLAUCOMA (2018)

Article Multidisciplinary Sciences

CRISPR-Cas9-based treatment of myocilin-associated glaucoma

Ankur Jain et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Multidisciplinary Sciences

Structural basis of membrane disruption and cellular toxicity by α-synuclein oligomers

Giuliana Fusco et al.

SCIENCE (2017)

Article Biochemistry & Molecular Biology

Structure and Misfolding of the Flexible Tripartite Coiled-Coil Domain of Glaucoma-Associated Myocilin

Shannon E. Hill et al.

STRUCTURE (2017)

Article Multidisciplinary Sciences

Identification of proteins that specifically recognize and bind protofibrillar aggregates of amyloid-β

Elisabet Wahlberg et al.

SCIENTIFIC REPORTS (2017)

Article Multidisciplinary Sciences

Isoform-selective Hsp90 inhibition rescues model of hereditary open-angle glaucoma

Andrew R. Stothert et al.

SCIENTIFIC REPORTS (2017)

Article Chemistry, Medicinal

Discovery of Molecular Therapeutics for Glaucoma: Challenges, Successes, and Promising Directions

Rebecca K. Donegan et al.

JOURNAL OF MEDICINAL CHEMISTRY (2016)

Review Medicine, Research & Experimental

Oxidative stress in the trabecular meshwork

Jing Zhao et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2016)

Article Biochemistry & Molecular Biology

Automated Structure- and Sequence-Based Design of Proteins for High Bacterial Expression and Stability

Adi Goldenzweig et al.

MOLECULAR CELL (2016)

Article Multidisciplinary Sciences

Super-complexes of adhesion GPCRs and neural guidance receptors

Verity A. Jackson et al.

NATURE COMMUNICATIONS (2016)

Article Biochemistry & Molecular Biology

Structural Basis of Latrophilin-FLRT-UNC5 Interaction in Cell Adhesion

Yue C. Lu et al.

STRUCTURE (2015)

Article Biochemistry & Molecular Biology

Structural basis for misfolding in myocilin-associated glaucoma

Rebecca K. Donegan et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma

Andrew R. Stothert et al.

HUMAN MOLECULAR GENETICS (2014)

Review Cell Biology

The amyloid state and its association with protein misfolding diseases

Tuomas P. J. Knowles et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2014)

Review Neurosciences

Recent advances in transthyretin amyloidosis therapy

Mitsuharu Ueda et al.

TRANSLATIONAL NEURODEGENERATION (2014)

Article Biochemistry & Molecular Biology

Direct Observation of the Interconversion of Normal and Toxic Forms of α-Synuclein

Nunilo Cremades et al.

Review Biochemistry & Molecular Biology

Genetics of Human Cardiovascular Disease

Sekar Kathiresan et al.

Review Biochemistry & Molecular Biology

Protein Misfolded Oligomers: Experimental Approaches, Mechanism of Formation, and Structure-Toxicity Relationships

Francesco Bemporad et al.

CHEMISTRY & BIOLOGY (2012)

Article Biochemistry & Molecular Biology

The Glaucoma-associated Olfactomedin Domain of Myocilin Is a Novel Calcium Binding Protein

Rebecca K. Donegan et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Biochemistry & Molecular Biology

Amyloid Fibril Formation by the Glaucoma-Associated Olfactomedin Domain of Myocilin

Susan D. Orwig et al.

JOURNAL OF MOLECULAR BIOLOGY (2012)

Article Medicine, Research & Experimental

Neurotoxicity of Amyloid β-Protein: Synaptic and Network Dysfunction

Lennart Mucke et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)

Review Multidisciplinary Sciences

Road to Ruin: Targeting Proteins for Degradation in the Endoplasmic Reticulum

Melanie H. Smith et al.

SCIENCE (2011)

Article Biochemistry & Molecular Biology

Rescue of Glaucoma-Causing Mutant Myocilin Thermal Stability by Chemical Chaperones

J. Nicole Burns et al.

ACS CHEMICAL BIOLOGY (2010)

Review Ophthalmology

Glaucoma-associated myocilin: A better understanding but much more to learn

Zachary T. Resch et al.

EXPERIMENTAL EYE RESEARCH (2009)

Article Ophthalmology

Cyclic Mechanical Stress and Trabecular Meshwork Cell Contractility

Renata F. Ramos et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)

Review Biochemistry & Molecular Biology

Autophagy and the ubiquitin-proteasome system: Collaborators in neuroprotection

Natalia B. Nedelsky et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2008)

Article Genetics & Heredity

Myocilin allele-speclific glaucoma phenotype database

Alex W. Hewitt et al.

HUMAN MUTATION (2008)

Article Biochemistry & Molecular Biology

Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease

Francisco Sanchez-Sanchez et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Cell Biology

Secreted gliomedin is a perinodal matrix component of peripheral nerves

Yael Eshed et al.

JOURNAL OF CELL BIOLOGY (2007)

Article Neurosciences

Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice

Vladimir Senatorov et al.

JOURNAL OF NEUROSCIENCE (2006)

Article Biochemistry & Molecular Biology

Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma

Douglas B. Gould et al.

MOLECULAR AND CELLULAR BIOLOGY (2006)

Article Ophthalmology

The number of people with glaucoma worldwide in 2010 and 2020

HA Quigley et al.

BRITISH JOURNAL OF OPHTHALMOLOGY (2006)

Article Biochemistry & Molecular Biology

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

JD Aroca-Aguilar et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Biochemistry & Molecular Biology

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

YH Liu et al.

HUMAN MOLECULAR GENETICS (2004)

Article Biochemistry & Molecular Biology

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

MK Joe et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)

Article Cell Biology

Ultrastructural localization of myocilin in human trabecular meshwork cells and tissues

J Ueda et al.

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2000)