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

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

(2017) Andreas Brodehl et al.   PLoS One

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

(2016) Rafal Ploski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy

(2016) Andreas Brodehl et al.   HUMAN MUTATION

Desmin and αB-crystallin interplay in the maintenance of mitochondrial homeostasis and cardiomyocyte survival

(2016) Antigoni Diokmetzidou et al.   JOURNAL OF CELL SCIENCE

Kluczowe znaczenie powtórnej biopsji lewej komory w diagnostyce kardiomiopatii restrykcyjnej na tle AL amyloidozy serca

(2016) Paweł Rubiś et al.   Kardiologia Polska

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

(2016) Anna Kostareva et al.   PLoS One

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

BAG3 myofibrillar myopathy presenting with cardiomyopathy

(2015) Chamindra G. Konersman et al.   NEUROMUSCULAR DISORDERS

Rescue of αB Crystallin (HSPB5) Mutants Associated Protein Aggregation by Co-Expression of HSPB5 Partners

(2015) Rasha M. Hussein et al.   PLoS One

Inherited Cardiomyopathies

(2014) Jeffrey A. Towbin   CIRCULATION JOURNAL

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

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The specificity of the interaction between  B-crystallin and desmin filaments and its impact on filament aggregation and cell viability

(2013) J. L. Elliott et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

Small heat shock proteins in redox metabolism: Implications for cardiovascular diseases

(2012) Elisabeth S. Christians et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Crystal Structure of R120G Disease Mutant of Human αB-Crystallin Domain Dimer Shows Closure of a Groove

(2011) A.R. Clark et al.   JOURNAL OF MOLECULAR BIOLOGY

A novel CRYAB mutation resulting in multisystemic disease

(2011) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

BAG3 Directly Interacts with Mutated alphaB-Crystallin to Suppress Its Aggregation and Toxicity

(2011) Akinori Hishiya et al.   PLoS One

Multiple molecular architectures of the eye lens chaperone  B-crystallin elucidated by a triple hybrid approach

(2011) N. Braun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Solid-state NMR and SAXS studies provide a structural basis for the activation of αB-crystallin oligomers

(2010) Stefan Jehle et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Crystal Structures of α-Crystallin Domain Dimers of αB-Crystallin and Hsp20

(2009) C. Bagnéris et al.   JOURNAL OF MOLECULAR BIOLOGY

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy

(2008) Simon Karam et al.   Congenital Heart Disease