Cargando…
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual
Amyotrophic lateral sclerosis (ALS) is a severe disease causing motor neuron death, but a complete cure has not been developed and related genes have not been defined in more than 80% of cases. Here we compared whole genome sequencing results from a male ALS patient and his healthy parents to identi...
Autores principales: | Yun, Yeomin, Hong, Sung-Ah, Kim, Ka-Kyung, Baek, Daye, Lee, Dongsu, Londhe, Ashwini M., Lee, Minhyung, Yu, Jihyeon, McEachin, Zachary T., Bassell, Gary J., Bowser, Robert, Hales, Chadwick M., Cho, Sung-Rae, Kim, Janghwan, Pae, Ae Nim, Cheong, Eunji, Kim, Sangwoo, Boulis, Nicholas M., Bae, Sangsu, Ha, Yoon |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970999/ https://www.ncbi.nlm.nih.gov/pubmed/31959876 http://dx.doi.org/10.1038/s42003-020-0755-1 |
Ejemplares similares
-
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease
por: Bakkar, Nadine, et al.
Publicado: (2021) -
Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia
por: Holler, Christopher J., et al.
Publicado: (2016) -
Synthesis and Biological Evaluation of Disubstituted Pyrimidines as Selective 5-HT(2C) Agonists
por: Kim, Juhyeon, et al.
Publicado: (2019) -
Investigation of Molecular Details of Keap1-Nrf2 Inhibitors Using Molecular Dynamics and Umbrella Sampling Techniques
por: Londhe, Ashwini Machhindra, et al.
Publicado: (2019) -
COLLABORATION AGREEMENT No. K1311
por: The European Organisation for Nuclear Research, CERN, et al.
Publicado: (2006)