Description

• Title:
  A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
• Creator:
  Rzepnikowska, Weronika;
  Kaminska, Joanna;
  Kabzińska, Dagmara;
  Binienda, Katarzyna;
  Kochański, Andrzej
• Description:
  Charcot–Marie–Tooth (CMT) disease encompasses a group of rare disorders that are characterized by similar clinical manifestations and a high genetic heterogeneity. Such excessive diversity presents many problems. Firstly, it makes a proper genetic diagnosis much more difficult and, even when using the most advanced tools, does not guarantee that the cause of the disease will be revealed. Secondly, the molecular mechanisms underlying the observed symptoms are extremely diverse and are probably different for most of the disease subtypes. Finally, there is no possibility of finding one efficient cure for all, or even the majority of CMT diseases. Every subtype of CMT needs an individual approach backed up by its own research field. Thus, it is little surprise that our knowledge of CMT disease as a whole is selective and therapeutic approaches are limited. There is an urgent need to develop new CMT models to fill the gaps. In this review, we discuss the advantages and disadvantages of yeast as a model system in which to study CMT diseases. We show how this single-cell organism may be used to discriminate between pathogenic variants, to uncover the mechanism of pathogenesis, and to discover new therapies for CMT disease.
• Object availability:
  free access
• Date:
  2020.06.16
• Type:
  Article;
  PeerReviewed
• Language:
  English;
  eng
• Format:
  application/pdf
• Publisher:
  MDPI
• Relation: http://eprints.ibb.waw.pl/1953 ;https://www.mdpi.com/1422-0067/21/12/4277 ;doi.org/10.3390/ijms21124277
• Subject:
  Q Science (General)
• Identifier: http://eprints.ibb.waw.pl/1953/1/ijms-21-04277-v2.pdf ;
  Rzepnikowska, Weronika and Kaminska, Joanna and Kabzińska, Dagmara and Binienda, Katarzyna and Kochański, Andrzej (2020) A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases. International Journal of Molecular Sciences, 21 (12). ISSN 1422-0067
• Data provider:
  Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk
• Can I use it?:
  seek permission
• Type:
  other