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Recessive Epidemiology: 19 families Genetics Mutations Missense & Stop 50% at GLN85: Gln85Pro PTRH2 protein Mitochondria: Outer membrane Integrin-mediated cell survival Apoptosis signaling Interaction with focal adhesion kinase (FAK) PI3K-AKT-NFkB pathway Induces Bcl-2 transcription Apoptosis Blocks: Intrinsic mitochondrial apoptotic pathway Promotes: Caspase-independent apoptosis by regulating transcriptional regulators, AES & TLE1 Regulates extracellular signal-regulated kinase (ERK) signaling Prevents accumulation of dissociated peptidyl-tRNA: Could inhibit protein synthesis Controls skeletal myogenesis: Caspase-mediated signaling pathway

It is naturally found in animal products such as meat, fish, dairy, and eggs, and is also available as a dietary supplement or prescription medication

DAndrea D, Soria F, Grotenhuis AJ, Cha EK, Malats N, Di Stasi S, et al

doi: 10.1080/87559129.2021.1923027 107 MahmoodaniF.GhassemM.BabjiA

Purinergic Signalling 16(2):167174

Z.Z., J.H., W.R., Y.Z