Cargando…
The polyG diseases: a new disease entity
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5’ untranslated region has been found in neuronal intranuclear inclusion disease (NIID), oculopharyngeal myopathy with leukoe...
Autores principales: | Liufu, Tongling, Zheng, Yilei, Yu, Jiaxi, Yuan, Yun, Wang, Zhaoxia, Deng, Jianwen, Hong, Daojun |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9153130/ https://www.ncbi.nlm.nih.gov/pubmed/35642014 http://dx.doi.org/10.1186/s40478-022-01383-y |
Ejemplares similares
-
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases
por: Boivin, Manon, et al.
Publicado: (2021) -
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model
por: Yu, Jiaxi, et al.
Publicado: (2022) -
Expression and Characterization of a New PolyG-Specific Alginate Lyase From Marine Bacterium Microbulbifer sp. Q7
por: Yang, Min, et al.
Publicado: (2018) -
Complex I deficiency in m.3243A>G fibroblasts is alleviated by reducing NADH accumulation
por: Liufu, Tongling, et al.
Publicado: (2023) -
Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease
por: Zhou, Yiyi, et al.
Publicado: (2022)