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Article

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

2019-08-06

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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Literature Corpus work
8361d738-9021-520e-89a0-5fe1768148fd
DOI
10.1101/727578
Open publication

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Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial developmentDOI 10.1101/727578
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