6533b872fe1ef96bd12d2dee

RESEARCH PRODUCT

Structural and Hereditary Chaperonopathies: Mutation

Alberto J.l. MacarioEverly Conway De MacarioFrancesco Cappello

subject

MutationMicrotubulefungiRespiratory chainmedicineHSP60BiologyMitochondrionmedicine.disease_causeGeneBiogenesisCell biologyChaperonin

description

This chapter deals with structural and hereditary chaperonopathies. The chaperonopathies caused by mutations in: sHsp, chaperonin genes (Hsp60 or Cpn60, and CCT subunits), Hsp40/DnaJ, Hsp70, sacsin, and dedicated chaperones (e.g., those involved in microtubule biogenesis, in maintenance of the respiratory chain inside the mitochondria, and others in various cell compartments and tissues), are described and discussed.

https://doi.org/10.1007/978-94-007-4667-1_4