Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

NHLRC2 (NHL repeat-containing protein 2) is an essential protein. Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood. To gain insight into the mechanisms of action...

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Detalles Bibliográficos
Autores principales: Biterova, Ekaterina, Ignatyev, Alexander, Uusimaa, Johanna, Hinttala, Reetta, Ruddock, Lloyd W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107167/
https://www.ncbi.nlm.nih.gov/pubmed/30138417
http://dx.doi.org/10.1371/journal.pone.0202391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107167/
https://www.ncbi.nlm.nih.gov/pubmed/30138417
http://dx.doi.org/10.1371/journal.pone.0202391

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