Cargando…
MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common inherited peripheral axonal neuropathy, is associated with more than 100 dominant mutations, including R94Q as the most abundant mutation in the Mitofusin2 (MFN2) gene. CMT2A is characterized by progressive motor and sensory loss, color-vi...
Autores principales: | Shahin, Saba, Lu, Bin, Zhou, Yueqin, Xu, Hui, Chetsawang, Jason, Baloh, Robert H., Wang, Shaomei |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014277/ https://www.ncbi.nlm.nih.gov/pubmed/36936780 http://dx.doi.org/10.1016/j.isci.2023.106270 |
Ejemplares similares
-
MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
por: Nan, Haitian, et al.
Publicado: (2021) -
Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation
por: Sano, Tomoya, et al.
Publicado: (2022) -
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
por: Engelfried, Kathrin, et al.
Publicado: (2006) -
Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study
por: Ando, Masahiro, et al.
Publicado: (2017) -
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
por: Braathen, Geir J, et al.
Publicado: (2010)