Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy

PTRF/Cavin-1 promotes efficient ribosomal RNA transcription in response to metabolic challenges

(2016) Libin Liu et al.   eLife

Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome

(2015) Abhimanyu Garg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

(2015) Musharraf Jelani et al.   European Journal of Medical Genetics

Molecular Characterization of Caveolin-induced Membrane Curvature

(2015) Nicholas Ariotti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Caveolae protect endothelial cells from membrane rupture during increased cardiac output

(2015) Jade P.X. Cheng et al.   JOURNAL OF CELL BIOLOGY

Cavin3 interacts with cavin1 and caveolin1 to increase surface dynamics of caveolae

(2015) J. Mohan et al.   JOURNAL OF CELL SCIENCE

Cavin family proteins and the assembly of caveolae

(2015) O. Kovtun et al.   JOURNAL OF CELL SCIENCE

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

(2015) Isabelle Schrauwen et al.   PLoS One

Tagging Strategies Strongly Affect the Fate of Overexpressed Caveolin-1

(2015) Bing Han et al.   TRAFFIC

Caveolin-1 Expression and Cavin Stability Regulate Caveolae Dynamics in Adipocyte Lipid Store Fluctuation

(2014) N. Briand et al.   DIABETES

Single-molecule analysis reveals self assembly and nanoscale segregation of two distinct cavin subcomplexes on caveolae

(2014) Yann Gambin et al.   eLife

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

(2013) Anna Ardissone et al.   BMC Medical Genetics

Caveolae as plasma membrane sensors, protectors and organizers

(2013) Robert G. Parton et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2013) Nobuyuki Murakami et al.   NEUROMUSCULAR DISORDERS

Overexpression of Caveolin-1 Is Sufficient to Phenocopy the Behavior of a Disease-Associated Mutant

(2013) Caroline A. Hanson et al.   TRAFFIC

Molecular Composition and Ultrastructure of the Caveolar Coat Complex

(2013) Alexander Ludwig et al.   PLOS BIOLOGY

Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

(2012) Eric D. Austin et al.   Circulation-Cardiovascular Genetics

Oligomers of the ATPase EHD2 confine caveolae to the plasma membrane through association with actin

(2012) Miriam Stoeber et al.   EMBO JOURNAL

EHD2 regulates caveolar dynamics via ATP-driven targeting and oligomerization

(2012) Björn Morén et al.   MOLECULAR BIOLOGY OF THE CELL

Oligomerization of Clostridium perfringens Epsilon Toxin Is Dependent upon Caveolins 1 and 2

(2012) Christine M. Fennessey et al.   PLoS One

Cells Respond to Mechanical Stress by Rapid Disassembly of Caveolae

(2011) Bidisha Sinha et al.   CELL

Caveolae respond to cell stretch and contribute to stretch-induced signaling

(2011) O. L. Gervasio et al.   JOURNAL OF CELL SCIENCE

Pacsin 2 is recruited to caveolae and functions in caveolar biogenesis

(2011) C. G. Hansen et al.   JOURNAL OF CELL SCIENCE

Essential role of PACSIN2/syndapin-II in caveolae membrane sculpting

(2011) Y. Senju et al.   JOURNAL OF CELL SCIENCE

Fat caves: caveolae, lipid trafficking and lipid metabolism in adipocytes

(2011) Paul F. Pilch et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

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

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

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

Evolutionary analysis and molecular dissection of caveola biogenesis

(2008) M. Kirkham et al.   JOURNAL OF CELL SCIENCE

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

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

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

(2008) Henian Cao et al.   Lipids in Health and Disease