Pianp deficiency links GABA_B receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior.

ABSTRACT: Pianp (also known as Leda-1) is a type I transmembrane protein with preferential expression in the mammalian CNS. Its processing is characterized by proteolytic cleavage by a range of proteases including Adam10, Adam17, MMPs, and the γ-secretase complex. Pianp can interact with Pilrα and the GB1a subunit of the GABA_B receptor (GBR) complex. A recent case description of a boy with global developmental delay and homozygous nonsense variant in PIANP supports the hypothesis that PIANP is involved in the control of behavioral traits in mammals. To investigate the physiological functions of Pianp, constitutive, global knockout mice were generated and comprehensively analyzed. Broad assessment did not indicate malformation or malfunction of internal organs. In the brain, however, decre

SUBMITTER: Winkler M 

PROVIDER: S-EPMC7577901 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature