PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.395
Abstract: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth… read more here.
Keywords: pmp22; deletion causes; gain function; exon deletion ... See more keywords
SAPAP4 Deletion Causes Synaptic Dysfunction in the nucleus accumbens.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.10.016
Abstract: SAP90/PSD95-associated proteins (SAPAPs) are one type of scaffold protein in the postsynaptic density (PSD). Scaffold proteins play an important role in synaptic function. Recently, many studies have shown that mutations associated with scaffold proteins cause… read more here.
Keywords: sapap4 deletion; dysfunction; sapap4 mice; deletion causes ... See more keywords