Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Von Willebrand A domain-containing protein 8 (VWA8), also named KIAA0564, is a poorly characterized, mitochondrial matrix-targeted protein having a putative ATPase activity. VWA8 is comprising of ATPase-associated domains and a VWFA domain associated with ATPase activity inside the cell. In the pres...

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Bibliographic Details
Main Authors: Muhammad Umair, Muhammad Farooq Khan, Mohammed Aldrees, Marwan Nashabat, Kheloud M. Alhamoudi, Muhammad Bilal, Yusra Alyafee, Abeer Al Tuwaijri, Manar Aldarwish, Ahmed Al-Rumayyan, Hamad Alkhalaf, Mohammad A. M. Wadaan, Majid Alfadhel
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
VWA8
whole-exome sequencing
novel gene
missense variant
zebrafish morpholino
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.736960/full

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