Associated Papers
The chaperone-assisted selective autophagy complex dynamics and dysfunctions.
Tedesco B et al.
Autophagy, 2023
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
30018047 (PubMed )
Supplement: jnnp-2018-318834supp001.pdf
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D et al.
Acta Neuropathologica, 2018
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
Adriaenssens E et al.
Brain : a Journal of Neurology, 2017
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
Kalmar B et al.
Human Molecular Genetics, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A et al.
Human Mutation, 2017
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
Scarlato M et al.
Journal of the Peripheral Nervous System : Jpns, 2015
Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK et al.
Neurobiology of Disease, 2012
Abnormal assemblies and subunit exchange of alphaB-crystallin R120 mutants could be associated with destabilization of the dimeric substructure.
Michiel M et al.
Biochemistry, 2009
Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).
James PA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Hereditary peripheral neuropathies of childhood.
Ryan MM et al.
Current Opinion in Neurology, 2005
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