Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases

Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases

Aquaporins (AQPs) are among the best structural-characterized membrane proteins, fulfilling the role of allowing water flux across cellular membranes. Thus far, 34 single amino acid polymorphisms have been reported in HUMSAVAR for human aquaporins as disease-related. They affect AQP2, AQP5 and AQP8,...

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Bibliographic Details
Main Authors: Luisa Calvanese, Gabriella D’Auria, Anna Vangone, Lucia Falcigno, Romina Oliva
Format: Article
Language:English
Published: MDPI AG 2018-05-01
Series:International Journal of Molecular Sciences
Subjects:
Aquaporins
mutations
genetic diseases
SAPs
structural effect
membrane proteins
channel proteins
NDI
PPKB
Online Access:http://www.mdpi.com/1422-0067/19/6/1577

Internet

http://www.mdpi.com/1422-0067/19/6/1577

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