Cargando…
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
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 t...
Autores principales: | Rzepnikowska, Weronika, Kaminska, Joanna, Kabzińska, Dagmara, Binięda, Katarzyna, Kochański, Andrzej |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352270/ https://www.ncbi.nlm.nih.gov/pubmed/32560077 http://dx.doi.org/10.3390/ijms21124277 |
Ejemplares similares
-
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model
por: Rzepnikowska, Weronika, et al.
Publicado: (2020) -
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
por: Binięda, Katarzyna, et al.
Publicado: (2021) -
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model
por: Rzepnikowska, Weronika, et al.
Publicado: (2022) -
The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
por: Kabzińska, Dagmara, et al.
Publicado: (2022) -
A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene
por: KOTRUCHOW, KATARZYNA, et al.
Publicado: (2013)