Article
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
American journal of human genetics - 5 Sept 2024
Morimoto Marie, Ryu Eunjin, Steger Benjamin J, Dixit Abhijit, Saito Yoshihiko, Yoo Juyeong, van der Ven Amelie T, Hauser Natalie, Steinbach Peter J, Oura Kazumasa, Huang Alden Y, Kortüm Fanny, Ninomiya Shinsuke, Rosenthal Elisabeth A, Robinson Hannah K, Guegan Katie, Denecke Jonas, Subramony Sankarasubramoney H, Diamonstein Callie J, Ping Jie, Fenner Mark, Balton Elsa V, Strohbehn Sam, Allworth Aimee, Bamshad Michael J, Gandhi Mahi, Dipple Katrina M, Blue Elizabeth E, Jarvik Gail P, Lau C Christopher, Holm Ingrid A, Weisz-Hubshman Monika, Solomon Benjamin D, Nelson Stanley F, Nishino Ichizo, Adams David R, Kang Sukhyun, Gahl William A, Toro Camilo, Myung Kyungjae, Malicdan May Christine V
Abstract excerpt
The precise regulation of DNA replication is vital for cellular division and genomic integrity. Central to this process is the replication factor C (RFC) complex, encompassing five subunits, which loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. While RFC1's role in cerebellar ataxia, neuropathy, and...
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