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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Lee, Hakbong, Jeong, Hanbin, Choe, Joonho, Jun, Youngsoo, Lim, Chunghun, Lee, Changwook
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5479863/
https://ncbi.nlm.nih.gov/pubmed/28638151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-04120-x
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