The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome

Kohlschutter-Tönz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. Rogdi, an essential protein, is highly conserved across metazoans, and mutations in Rogdi are linked to KTS. Howe...

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Detalles Bibliográficos
Autores principales: Lee, Hakbong, Jeong, Hanbin, Choe, Joonho, Jun, Youngsoo, Lim, Chunghun, Lee, Changwook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479863/
https://www.ncbi.nlm.nih.gov/pubmed/28638151
http://dx.doi.org/10.1038/s41598-017-04120-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479863/
https://www.ncbi.nlm.nih.gov/pubmed/28638151
http://dx.doi.org/10.1038/s41598-017-04120-x

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