Mutations of small heat shock proteins and human congenital diseases

The A-kinase-anchoring protein AKAP-Lbc facilitates cardioprotective PKA phosphorylation of Hsp20 on Ser16

(2012) Helen V. Edwards et al.   BIOCHEMICAL JOURNAL

PKA phosphorylation of the small heat-shock protein Hsp20 enhances its cardioprotective effects

(2012) Helen V. Edwards et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Molecular basis of axonal dysfunction and traffic impairments in CMT

(2012) Benoit J. Gentil et al.   BRAIN RESEARCH BULLETIN

Structural Aspects and Chaperone Activity of Human HspB3: Role of the “C-Terminal Extension”

(2012) Abhishek Asthana et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Small heat shock proteins HSP27 (HspB1), αB-crystallin (HspB5) and HSP22 (HspB8) as regulators of cell death

(2012) Julie Acunzo et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

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

Structural Studies on the Oligomeric Transition of a Small Heat Shock Protein, StHsp14.0

(2012) Yuya Hanazono et al.   JOURNAL OF MOLECULAR BIOLOGY

A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

(2012) Alexander M. Rossor et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice

(2012) Amit K. Srivastava et al.   NEUROBIOLOGY OF DISEASE

Protein misfolding and aggregation in cataract disease and prospects for prevention

(2012) Kate L. Moreau et al.   TRENDS IN MOLECULAR MEDICINE

Biochemical characterization of small heat shock protein HspB8 (Hsp22)–Bag3 interaction

(2011) Anton A. Shemetov et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Molecular Mechanisms of α-Crystallinopathy and Its Therapeutic Strategy

(2011) Atsushi Sanbe   BIOLOGICAL & PHARMACEUTICAL BULLETIN

The emerging role of HSP20 as a multifunctional protective agent

(2011) H.V. Edwards et al.   CELLULAR SIGNALLING

Temperature-dependent structural and functional properties of a mutant (F71L) αA-crystallin: Molecular basis for early onset of age-related cataract

(2011) Vakdevi Validandi et al.   FEBS LETTERS

Three-Dimensional Structure of α-Crystallin Domain Dimers of Human Small Heat Shock Proteins HSPB1 and HSPB6

(2011) E.V. Baranova et al.   JOURNAL OF MOLECULAR BIOLOGY

Quaternary Dynamics of αB-Crystallin as a Direct Consequence of Localised Tertiary Fluctuations in the C-Terminus

(2011) Andrew J. Baldwin et al.   JOURNAL OF MOLECULAR BIOLOGY

αB-Crystallin Polydispersity Is a Consequence of Unbiased Quaternary Dynamics

(2011) Andrew J. Baldwin et al.   JOURNAL OF MOLECULAR 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

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes

(2011) Alice S. Kwok et al.   JOURNAL OF NEUROCHEMISTRY

Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy

(2011) L. Almeida-Souza et al.   JOURNAL OF NEUROSCIENCE

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

(2011) Simona Capponi et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Phosphorylation of human small heat shock protein HspB8 (Hsp22) by ERK1 protein kinase

(2011) Anton A. Shemetov et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

(2011) Constantin d'Ydewalle et al.   NATURE MEDICINE

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

A novel CRYAB mutation resulting in multisystemic disease

(2011) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

Large Potentials of Small Heat Shock Proteins

(2011) Evgeny V. Mymrikov et al.   PHYSIOLOGICAL REVIEWS

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

(2011) Kon-Ping Lin 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

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

Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins

(2011) Serena Carra et al.   PROGRESS IN NEUROBIOLOGY

Small heat shock proteins and α-crystallins: dynamic proteins with flexible functions

(2011) Eman Basha et al.   TRENDS IN BIOCHEMICAL SCIENCES

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

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

Small heat shock proteins, protein degradation and protein aggregation diseases

(2010) Michel J. Vos et al.   Autophagy

Targeting heat shock proteins in cancer

(2010) Gaëtan Jego et al.   CANCER LETTERS

Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3)

(2010) Xiankui Sun et al.   CELL STRESS & CHAPERONES

Small Heat Shock Proteins and Protein-Misfolding Diseases

(2010) Ewa Laskowska et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

A quantitative NMR spectroscopic examination of the flexibility of the C-terminal extensions of the molecular chaperones, αA- and αB-crystallin

(2010) Teresa M. Treweek et al.   EXPERIMENTAL EYE RESEARCH

Independent evolution of the core domain and its flanking sequences in small heat shock proteins

(2010) Thomas Kriehuber et al.   FASEB JOURNAL

Mutant HSPB8 causes motor neuron-specific neurite degeneration

(2010) Joy Irobi et al.   HUMAN MOLECULAR GENETICS

Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy

(2010) Leonardo Almeida-Souza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Small heat shock protein 20 (HspB6) in cardiac hypertrophy and failure

(2010) Guo-Chang Fan et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

(2010) M. Luigetti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach

(2010) S. J. Kolb et al.   NEUROLOGY

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

Dynamic Subunit Exchange and the Regulation of Microtubule Assembly by the Stress Response Protein Human αB Crystallin

(2010) Scott A. Houck et al.   PLoS One

Crystal structures of truncated alphaA and alphaB crystallins reveal structural mechanisms of polydispersity important for eye lens function

(2010) Arthur Laganowsky et al.   PROTEIN SCIENCE

Identification of the key structural motifs involved in HspB8/HspB6–Bag3 interaction

(2009) Margit Fuchs et al.   BIOCHEMICAL JOURNAL

Structure and Mechanism of Protein Stability Sensors: Chaperone Activity of Small Heat Shock Proteins

(2009) Hassane S. Mchaourab et al.   BIOCHEMISTRY

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

Why proteins without an α-crystallin domain should not be included in the human small heat shock protein family HSPB

(2009) Guido Kappé et al.   CELL STRESS & CHAPERONES

The small heat shock protein, HSPB6, in muscle function and disease

(2009) Catherine M. Dreiza et al.   CELL STRESS & CHAPERONES

Heat shock protein 27 phosphorylation: kinases, phosphatases, functions and pathology

(2009) Sergiy Kostenko et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

(2009) Paola Mandich et al.   JOURNAL OF CHILD NEUROLOGY

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

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

Substrate binding site flexibility of the small heat shock protein molecular chaperones

(2009) N. Jaya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural and Functional Diversities between Members of the Human HSPB, HSPH, HSPA, and DNAJ Chaperone Families†

(2008) Michel J. Vos et al.   BIOCHEMISTRY

Abnormal Assemblies and Subunit Exchange of αB-Crystallin R120 Mutants Could Be Associated with Destabilization of the Dimeric Substructure†

(2008) Magalie Michiel et al.   BIOCHEMISTRY

Cataract mutation P20S of αB-crystallin impairs chaperone activity of αA-crystallin and induces apoptosis of human lens epithelial cells

(2008) Hui Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Glutamic acid residues in the C-terminal extension of small heat shock protein 25 are critical for structural and functional integrity

(2008) Amie M. Morris et al.   FEBS Journal

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

(2008) Feng Gu et al.   HUMAN MUTATION

Human Mutation in the Anti-apoptotic Heat Shock Protein 20 Abrogates Its Cardioprotective Effects

(2008) Persoulla Nicolaou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

HspB8 Participates in Protein Quality Control by a Non-chaperone-like Mechanism That Requires eIF2α Phosphorylation

(2008) Serena Carra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

(2008) P A James et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Combining Protein-Based IMAC, Peptide-Based IMAC, and MudPIT for Efficient Phosphoproteomic Analysis

(2008) Greg T. Cantin et al.   JOURNAL OF PROTEOME RESEARCH

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

(2008) Yoshihisa Ikeda et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY

Interaction of C-Terminal Truncated Human αA-Crystallins with Target Proteins

(2008) Anbarasu Kumarasamy et al.   PLoS One