Mutations in HspB1 and hereditary neuropathies

Local unfolding of the HSP27 monomer regulates chaperone activity

(2019) T. Reid Alderson et al.   Nature Communications

Mechanisms of Small Heat Shock Proteins

(2019) Maria K. Janowska et al.   Cold Spring Harbor Perspectives in Biology

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

(2019) Mansour Haidar et al.   Autophagy

Characterization of human small heat shock protein HSPB1 α-crystallin domain localized mutants associated with hereditary motor neuron diseases

(2018) Stephen D. Weeks et al.   Scientific Reports

Characterization of heat shock protein 27 in extracellular vesicles: a potential anti-inflammatory therapy

(2018) Chunhua Shi et al.   FASEB JOURNAL

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

(2018) Akiko Yoshimura et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons

(2017) Patrick L. Heilman et al.   EXPERIMENTAL NEUROLOGY

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

(2017) Bernadett Kalmar et al.   HUMAN MOLECULAR GENETICS

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

(2017) Andoni Echaniz-Laguna et al.   HUMAN MUTATION

Specific sequences in the N-terminal domain of human small heat-shock protein HSPB6 dictate preferential hetero-oligomerization with the orthologue HSPB1

(2017) Michelle Heirbaut et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family

(2017) Jakkrit Amornvit et al.   Brain and Behavior

Towards a functional pathology of hereditary neuropathies

(2016) Joachim Weis et al.   ACTA NEUROPATHOLOGICA

Interaction of small heat shock proteins with light component of neurofilaments (NFL)

(2016) Victoria V. Nefedova et al.   CELL STRESS & CHAPERONES

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

(2016) Simona Capponi et al.   HUMAN MUTATION

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene

(2016) Moritz Oberstadt et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot–Marie–Tooth Disease

(2016) Veronick Benoy et al.   Neurotherapeutics

Small heat shock proteins: Role in cellular functions and pathology

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

Phosphomimics Destabilize Hsp27 Oligomeric Assemblies and Enhance Chaperone Activity

(2015) Blagojce Jovcevski et al.   CHEMISTRY & BIOLOGY

Mitochondrial dynamics and inherited peripheral nerve diseases

(2015) Davide Pareyson et al.   NEUROSCIENCE LETTERS

Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases

(2015) Lydia K. Muranova et al.   PLoS One

Characterization of human small heat shock protein HspB1 that carries C-terminal domain mutations associated with hereditary motor neuron diseases

(2014) Anna S. Chalova et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Small heat-shock proteins: important players in regulating cellular proteostasis

(2014) Teresa M. Treweek et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites

(2014) Rainer Benndorf et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

(2014) Claudia Stancanelli et al.   NEUROLOGICAL SCIENCES

Dynamical structure of αB-crystallin

(2014) Georg K.A. Hochberg et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Charcot–Marie–Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments

(2013) Anne Holmgren et al.   ACTA NEUROPATHOLOGICA

Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy

(2013) Victoria V. Nefedova et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies

(2013) Victoria V. Nefedova et al.   BIOCHIMIE

Human small heat shock proteins: Protein interactomes of homo- and hetero-oligomeric complexes: An update

(2013) André-Patrick Arrigo   FEBS LETTERS

Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

(2013) R. Sivera et al.   NEUROLOGY

Analysis and Phylogeny of Small Heat Shock Proteins from Marine Viruses and Their Cyanobacteria Host

(2013) Halim Maaroufi et al.   PLoS One

Heat shock proteins and heat shock factor 1 in carcinogenesis and tumor development: an update

(2012) Daniel R. Ciocca et al.   ARCHIVES OF TOXICOLOGY

Molecular basis of axonal dysfunction and traffic impairments in CMT

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

Binding determinants of the small heat shock protein, αB-crystallin: recognition of the ‘IxI’ motif

(2012) Scott P Delbecq et al.   EMBO JOURNAL

Small heat shock proteins and the cytoskeleton: An essential interplay for cell integrity?

(2012) G. Wettstein et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

(2012) Sinead M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Charcot–Marie–Tooth disease and intracellular traffic

(2012) Cecilia Bucci et al.   PROGRESS IN NEUROBIOLOGY

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Molecular chaperones in mammary cancer growth and breast tumor therapy

(2011) Stuart K. Calderwood et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

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

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

Charcot–Marie–Tooth disease in Northern England: Figure 1

(2011) Charlotte Foley et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

Charcot-Marie-Tooth disease

(2011) Mary M. Reilly et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

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

Microtubules, Axonal Transport, and Neuropathy

(2011) Erika L.F. Holzbaur et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

(2010) Sara Benedetti et al.   ARCHIVES OF NEUROLOGY

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

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

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

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

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

HSPB7 is a SC35 speckle resident small heat shock protein

(2009) Michel J. Vos et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

Heterooligomeric complexes formed by human small heat shock proteins HspB1 (Hsp27) and HspB6 (Hsp20)

(2008) Olesya V. Bukach et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

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

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