Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood

(2013) Nobuyuki Murakami et al.   NEUROMUSCULAR DISORDERS

Alterations of excitation-contraction coupling and excitation coupled Ca2+ entry in human myotubes carrying CAV3 mutations linked to rippling muscle

(2011) Nina D. Ullrich et al.   HUMAN MUTATION

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

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

MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes

(2009) Michele Bastiani et al.   JOURNAL OF CELL BIOLOGY

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

Cavin fever: regulating caveolae

(2009) Ivan R. Nabi   NATURE CELL BIOLOGY

SDPR induces membrane curvature and functions in the formation of caveolae

(2009) Carsten G. Hansen et al.   NATURE CELL BIOLOGY

Biogenesis of Caveolae: Stepwise Assembly of Large Caveolin and Cavin Complexes

(2009) Arnold Hayer et al.   TRAFFIC

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