Polymerase Transcriptase Release Factor (PTRF) Anchors MG53 Protein to Cell Injury Site for Initiation of Membrane Repair

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations

(2010) Savitha Shastry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MG53 Constitutes a Primary Determinant of Cardiac Ischemic Preconditioning

(2010) Chun-Mei Cao et al.   CIRCULATION

Cardioprotection of Ischemia/Reperfusion Injury by Cholesterol-Dependent MG53-Mediated Membrane Repair

(2010) Xianhua Wang et al.   CIRCULATION RESEARCH

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

(2010) Ery Kus Dwianingsih et al.   MOLECULAR GENETICS AND METABOLISM

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

(2010) Anna Rajab et al.   PLoS Genetics

SRBC/cavin-3 is a caveolin adapter protein that regulates caveolae function

(2009) Kerrie-Ann McMahon et al.   EMBO JOURNAL

Membrane Repair Defects in Muscular Dystrophy Are Linked to Altered Interaction between MG53, Caveolin-3, and Dysferlin

(2009) Chuanxi Cai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

PTRF-Cavin, a Conserved Cytoplasmic Protein Required for Caveola Formation and Function

(2008) Michelle M. Hill et al.   CELL

Deletion of Cavin/PTRF Causes Global Loss of Caveolae, Dyslipidemia, and Glucose Intolerance

(2008) Libin Liu et al.   Cell Metabolism

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

(2008) C. A. Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

MG53 nucleates assembly of cell membrane repair machinery

(2008) Chuanxi Cai et al.   NATURE CELL BIOLOGY