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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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Podrobná bibliografie
Vydáno v:PLoS One
Hlavní autoři: Biterova, Ekaterina, Ignatyev, Alexander, Uusimaa, Johanna, Hinttala, Reetta, Ruddock, Lloyd W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6107167/
https://ncbi.nlm.nih.gov/pubmed/30138417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0202391
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