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dc.contributor.authorScalia, Federica
dc.contributor.authorVitale, Alessandra Maria
dc.contributor.authorSantonocito, Radha
dc.contributor.authorde Macario, Everly Conway
dc.contributor.authorMacario, Alberto J.L.
dc.contributor.authorCappello, Francesco
dc.date.accessioned2021-02-12T16:48:12Z
dc.date.available2021-02-12T16:48:12Z
dc.date.issued2021-02-01
dc.identifier.urihttp://hdl.handle.net/10713/14687
dc.description.abstractThe chaperone (or chaperoning) system (CS) constitutes molecular chaperones, co-chaperones, and chaperone co-factors, interactors and receptors, and its canonical role is protein quality control. A malfunction of the CS may cause diseases, known as the chaperonopathies. These are caused by qualitatively and/or quantitatively abnormal molecular chaperones. Since the CS is ubiquitous, chaperonopathies are systemic, affecting various tissues and organs, playing an etiologic-pathogenic role in diverse conditions. In this review, we focus on chaperonopathies involved in the pathogenic mechanisms of diseases of the central and peripheral nervous systems: the neurochaperonopathies (NCPs). Genetic NCPs are linked to pathogenic variants of chaperone genes encoding, for example, the small Hsp, Hsp10, Hsp40, Hsp60, and CCT-BBS (chaperonin-containing TCP-1-Bardet–Biedl syndrome) chaperones. Instead, the acquired NCPs are associated with malfunctional chaperones, such as Hsp70, Hsp90, and VCP/p97 with aberrant post-translational modifications. Awareness of the chaperonopathies as the underlying primary or secondary causes of disease will improve diagnosis and patient management and open the possibility of investigating and developing chaperonotherapy, namely treatment with the abnormal chaperone as the main target. Positive chaperonotherapy would apply in chaperonopathies by defect, i.e., chaperone insufficiency, and consist of chaperone replacement or boosting, whereas negative chaperonotherapy would be pertinent when a chaperone actively participates in the initiation and progression of the disease and must be blocked and eliminated. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.en_US
dc.description.urihttps://doi.org/10.3390/app11030898en_US
dc.publisherMDPI AGen_US
dc.relation.ispartofApplied Sciences (Switzerland)en_US
dc.subjectChaperone systemen_US
dc.subjectChaperonopathiesen_US
dc.subjectChaperonotherapyen_US
dc.subjectHspsen_US
dc.subjectMolecular chaperonesen_US
dc.subjectNervous systemen_US
dc.subjectNeurochaperonopathiesen_US
dc.subjectNeurodegenerationen_US
dc.subjectNeuromuscular disordersen_US
dc.titleThe neurochaperonopathies: Anomalies of the chaperone system with pathogenic effects in neurodegenerative and neuromuscular disordersen_US
dc.typeArticleen_US
dc.identifier.doi10.3390/app11030898
dc.source.volume11
dc.source.issue3
dc.source.beginpage1
dc.source.endpage22


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