Article
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.
Disease models & mechanisms - 26 May 2020
Ates Kristin M, Wang Tong, Moreland Trevor, Veeranan-Karmegam Rajalakshmi, Ma Manxiu, Jeter Chelsi, Anand Priya, Wenzel Wolfgang, Kim Hyung-Goo, Wolfe Lynne A, Stephen Joshi, Adams David R, Markello Thomas, Tifft Cynthia J, Settlage Robert, Gahl William A, Gonsalvez Graydon B, Malicdan May Christine, Flanagan-Steet Heather, Pan Y Albert
Abstract excerpt
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes. We addressed this by investigating a key pair of endocytic adaptor proteins, PH domain-containing endocytic trafficking adaptor 1 and 2 (PHETA1/2; also known as FAM109A/B, Ses1/2, IPIP27A/B), which interact with the protein product of OCRL, the causative...
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