Ontology highlight
ABSTRACT:
SUBMITTER: Doe J
PROVIDER: S-EPMC6075508 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Doe Jinger J Kaindl Angela M AM Jijiwa Mayumi M de la Vega Michelle M Hu Hao H Griffiths Genevieve S GS Fontelonga Tatiana M TM Barraza Pamela P Cruz Vivian V Van Ry Pam P Ramos Joe W JW Burkin Dean J DJ Matter Michelle L ML
Human molecular genetics 20170401 8
Peptidyl-tRNA hydrolase 2 (PTRH2) regulates integrin-mediated pro-survival and apoptotic signaling. PTRH2 is critical in muscle development and regulates myogenic differentiation. In humans a biallelic mutation in the PTRH2 gene causes infantile-onset multisystem disease with progressive muscle weakness. We report here that the Ptrh2 knockout mouse model recapitulates the progressive congenital muscle pathology observed in patients. Ptrh2 null mice demonstrate multiple degenerating and regenerat ...[more]