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

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

(2016) Simona Capponi et al.   HUMAN MUTATION

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

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

(2014) Alexander M. Rossor et al.   BRAIN

Recent advances in Charcot–Marie–Tooth disease

(2014) Jonathan Baets et al.   CURRENT OPINION IN NEUROLOGY

A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1

(2014) Kengo Maeda et al.   INTERNAL MEDICINE

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

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

(2014) A. Echaniz-Laguna et al.   NEUROLOGY

Charcot-Marie-Tooth Disease Type 2A

(2014) Francesco Bombelli et al.   JAMA Neurology

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

(2014) Christina DiVincenzo et al.   Molecular Genetics & Genomic Medicine

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

(2013) Anne Holmgren et al.   ACTA NEUROPATHOLOGICA

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

(2013) Emil Ylikallio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurofilament phosphorylation and their proline-directed kinases in health and disease

(2012) Anne Holmgren et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

The Size of the Proteasomal Substrate Determines Whether Its Degradation Will Be Mediated by Mono- or Polyubiquitylation

(2012) Nitzan Shabek et al.   MOLECULAR CELL

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

(2012) Joy Irobi et al.   NEUROMUSCULAR DISORDERS

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

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

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

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

Identification of theDrosophilaOrtholog of HSPB8

(2010) Serena Carra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) S. J. Kolb et al.   NEUROLOGY

Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis

(2009) Nizar Chahin et al.   MUSCLE & NERVE

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

(2008) H. Houlden et al.   NEUROLOGY