Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins

Nucleosomal association and altered interactome underlie the mechanism of cataract caused by the R54C mutation of αA-crystallin

(2021) Saad M. Ahsan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Analysis of amyloid-like secondary structure in the Cryab-R120G knock-in mouse model of hereditary cataracts by two-dimensional infrared spectroscopy

(2021) Ariel M. Alperstein et al.   PLoS One

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

(2020) Ana T. Marcos et al.   Molecular Genetics & Genomic Medicine

Effect of cataract-associated mutations in the N-terminal domain of αB-crystallin (HspB5)

(2020) Lydia K. Muranova et al.   EXPERIMENTAL EYE RESEARCH

A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.

(2020) Yinhui Yu et al.   OPHTHALMIC GENETICS

The genetic landscape of crystallins in congenital cataract

(2020) Vanita Berry et al.   Orphanet Journal of Rare Diseases

Amyloid found in human cataracts with two-dimensional infrared spectroscopy

(2019) Ariel M. Alperstein et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural and functional consequences of age-related isomerization in α-crystallins

(2019) Yana A. Lyon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cleavage C-terminal to Asp leads to covalent crosslinking of long-lived human proteins

(2019) Zhen Wang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Structural and functional characterization of D109H and R69C mutant versions of human αB-crystallin: The biochemical pathomechanism underlying cataract and myopathy development

(2019) Maryam Ghahramani et al.   INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

Spatiotemporal changes in the human lens proteome: Critical insights into long-lived proteins

(2019) Kevin L. Schey et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The structure and oxidation of the eye lens chaperone αA-crystallin

(2019) Christoph J. O. Kaiser et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Differences in α-Crystallin isomerization reveal the activity of protein isoaspartyl methyltransferase (PIMT) in the nucleus and cortex of human lenses

(2018) Yana A. Lyon et al.   EXPERIMENTAL EYE RESEARCH

Structural and functional alteration of human αA-crystallin after exposure to full spectrum solar radiation and preventive role of lens antioxidants

(2018) Afrooz Anbaraki et al.   INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

αB-Crystallin Phosphorylation: Advances and Problems

(2018) L. K. Muranova et al.   BIOCHEMISTRY-MOSCOW

A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

(2018) Zixun Song et al.   BMC Medical Genetics

The novel αB-crystallin (CRYAB ) mutation p.D109G causes restrictive cardiomyopathy

(2017) Andreas Brodehl et al.   HUMAN MUTATION

Amyloid β-Sheet Secondary Structure Identified in UV-Induced Cataracts of Porcine Lenses using 2D IR Spectroscopy

(2017) Tianqi O. Zhang et al.   JOURNAL OF MOLECULAR BIOLOGY

Lens Endogenous Peptide αA66-80 Generates Hydrogen Peroxide and Induces Cell Apoptosis

(2017) Murugesan Raju et al.   Aging and Disease

Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells

(2017) Li Li et al.   Scientific Reports

Phosphorylation of αB-crystallin: Role in stress, aging and patho-physiological conditions

(2016) Raman Bakthisaran et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Alpha-crystallin-derived peptides as therapeutic chaperones

(2016) Murugesan Raju et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Structure and function of α-crystallins: Traversing from in vitro to in vivo

(2016) Martin Haslbeck et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Isomerization of Asp residues plays an important role in αA-crystallin dissociation

(2016) Takumi Takata et al.   FEBS Journal

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility

(2016) Katie A. Mitzelfelt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Small heat shock proteins: Role in cellular functions and pathology

(2015) Raman Bakthisaran et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Lanosterol reverses protein aggregation in cataracts

(2015) Ling Zhao et al.   NATURE

Pharmacological chaperone for  -crystallin partially restores transparency in cataract models

(2015) L. N. Makley et al.   SCIENCE

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

(2015) Xiaodong Jiaox et al.   PLoS One

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

(2014) Xin-Yi Xia et al.   BMC Ophthalmology

Age-Related Eye Diseases and Visual Impairment Among U.S. Adults

(2013) Chiu-Fang Chou et al.   AMERICAN JOURNAL OF PREVENTIVE MEDICINE

The αA66–80 Peptide Interacts with Soluble α-Crystallin and Induces Its Aggregation and Precipitation: A Contribution to Age-Related Cataract Formation

(2013) Rama Kannan et al.   BIOCHEMISTRY

Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies

(2013) J.J. van der Smagt et al.   CLINICAL GENETICS

A R54L Mutation ofCRYAAAssociated with Autosomal Dominant Nuclear Cataracts in a Chinese Family

(2013) Zhenfei Yang et al.   CURRENT EYE RESEARCH

Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: Influence of co-expression of HspB1

(2012) Ilangovan Raju et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Amyloid-β Oligomers are Sequestered by both Intracellular and Extracellular Chaperones

(2012) Priyanka Narayan et al.   BIOCHEMISTRY

Identification of a Novel Oligomerization Disrupting Mutation inCRYΑAAssociated with Congenital Cataract in a South Australian Family

(2012) Kate J. Laurie et al.   HUMAN MUTATION

sHSP in the eye lens: Crystallin mutations, cataract and proteostasis

(2012) Alice R. Clark et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Age-dependent racemization of serine residues in a human chaperone protein

(2012) Michelle Y. S. Hooi et al.   PROTEIN SCIENCE

Acetylation of αA-crystallin in the human lens: Effects on structure and chaperone function

(2011) Ram H. Nagaraj et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Binding of the Molecular Chaperone αB-Crystallin to Aβ Amyloid Fibrils Inhibits Fibril Elongation

(2011) Sarah L. Shammas et al.   BIOPHYSICAL JOURNAL

Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin

(2011) Rajshekhar Kore et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

A novel CRYAB mutation resulting in multisystemic disease

(2011) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

Congenital Cataract Causing Mutants of αA-Crystallin/sHSP Form Aggregates and Aggresomes Degraded through Ubiquitin-Proteasome Pathway

(2011) Ilangovan Raju et al.   PLoS One

N-terminal domain of  B-crystallin provides a conformational switch for multimerization and structural heterogeneity

(2011) S. Jehle et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

(2010) Marc R. Del Bigio et al.   ANNALS OF NEUROLOGY

Autosomal Dominant Congenital Nuclear Cataracts Caused by a CRYAA Gene Mutation

(2010) Fei-Feng Li et al.   CURRENT EYE RESEARCH

Localization of low molecular weight crystallin peptides in the aging human lens using a MALDI mass spectrometry imaging approach

(2010) Shih-Ping Su et al.   EXPERIMENTAL EYE RESEARCH

Selective degradation of aggregate-prone CryAB mutants by HSPB1 is mediated by ubiquitin–proteasome pathways

(2010) Huali Zhang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

(2010) Peter Reilich et al.   NEUROMUSCULAR DISORDERS

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

(2010) Katharine M.L. Forrest et al.   NEUROMUSCULAR DISORDERS

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W)

(2010) Arif O. Khan et al.   OPHTHALMIC GENETICS

Deletion of54FLRAPSWF61Residues Decreases the Oligomeric Size and Enhances the Chaperone Function of αB-Crystallin

(2009) Puttur Santhoshkumar et al.   BIOCHEMISTRY

Lens aging: Effects of crystallins

(2009) K. Krishna Sharma et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

A novel mutation (F71L) in αA-Crystallin with defective chaperone-like function associated with age-related cataract

(2009) S.G. Bhagyalaxmi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Self-assembly of protein amyloids: A competition between amorphous and ordered aggregation

(2009) Chiu Fan Lee   PHYSICAL REVIEW E

The eye lens chaperone  -crystallin forms defined globular assemblies

(2009) J. Peschek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)

(2008) Leslie Richter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanism of Insolubilization by a Single-Point Mutation in αA-Crystallin Linked with Hereditary Human Cataracts†

(2008) Usha P. Andley et al.   BIOCHEMISTRY

Structural and Functional Roles of Deamidation and/or Truncation of N- or C-Termini in Human αA-Crystallin†

(2008) Jose M. Chaves et al.   BIOCHEMISTRY

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

(2008) Feng Gu et al.   HUMAN MUTATION

Truncation of αB-Crystallin by the Myopathy-causing Q151X Mutation Significantly Destabilizes the Protein Leading to Aggregate Formation in Transfected Cells

(2008) Victoria H. Hayes et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Significance of Interactions of Low Molecular Weight Crystallin Fragments in Lens Aging and Cataract Formation

(2008) Puttur Santhoshkumar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY