Msto1-KO 基因敲除小鼠

1. Ardicli, Didem, Sarkozy, Anna, Zaharieva, Irina, Jungbluth, Heinz, Muntoni, Francesco. 2019. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. In Neuromuscular disorders : NMD, 29, 448-455. doi:10.1016/j.nmd.2019.03.011. https://pubmed.ncbi.nlm.nih.gov/31130378/

2. Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Delague, Valérie, Urtizberea, J Andoni. . A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. In Journal of neuromuscular diseases, 9, 193-210. doi:10.3233/JND-210652. https://pubmed.ncbi.nlm.nih.gov/34602496/

3. Li, Kun, Jin, Runming, Wu, Xiaoyan. 2019. Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. In European journal of medical genetics, 63, 103623. doi:10.1016/j.ejmg.2019.01.013. https://pubmed.ncbi.nlm.nih.gov/30684668/

4. Nasca, Alessia, Di Meo, Ivano, Fellig, Yakov, Ghezzi, Daniele, Edvardson, Shimon. 2021. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy. In Journal of human genetics, 66, 835-840. doi:10.1038/s10038-020-00897-4. https://pubmed.ncbi.nlm.nih.gov/33612823/

5. Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Ferlini, Alessandra, Ghezzi, Daniele. 2017. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. In Human mutation, 38, 970-977. doi:10.1002/humu.23262. https://pubmed.ncbi.nlm.nih.gov/28544275/

6. Chen, Jia, Xiao, Junfang, Chen, Ge, Zou, Yang, Wu, Qiongfang. 2022. Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia. In Frontiers in neurology, 13, 988519. doi:10.3389/fneur.2022.988519. https://pubmed.ncbi.nlm.nih.gov/36468072/

7. Al Ojaimi, Mode, Salah, Azza, El-Hattab, Ayman W. 2022. Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders. In Membranes, 12, . doi:10.3390/membranes12090893. https://pubmed.ncbi.nlm.nih.gov/36135912/

8. Iwama, Kazuhiro, Takaori, Toru, Fukushima, Ai, Mizuguchi, Takeshi, Matsumoto, Naomichi. 2018. Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. In Journal of human genetics, 63, 263-270. doi:10.1038/s10038-017-0405-8. https://pubmed.ncbi.nlm.nih.gov/29339779/

9. Tian, Yang, Shi, Zhen, Hou, Chi, Li, Xiaojing, Chen, Wenxiong. . [Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39, 417-420. doi:10.3760/cma.j.cn511374-20210319-00249. https://pubmed.ncbi.nlm.nih.gov/35446979/

10. Olsen, Cathrine Goberg, Busk, Øyvind Løvold, Holla, Øystein Lunde, Tysnes, Ole-Bjørn, Høyer, Helle. 2024. Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders. In Amyotrophic lateral sclerosis & frontotemporal degeneration, 25, 177-187. doi:10.1080/21678421.2023.2270705. https://pubmed.ncbi.nlm.nih.gov/37849306/