von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention

Functional Roles of the von Willebrand Factor Propeptide

(2021) Orla Rawley et al.   Hamostaseologie

Sec22b determines Weibel-Palade body length by controlling anterograde ER-Golgi transport

(2020) Ellie Karampini et al.   HAEMATOLOGICA

Protein quality control in the endoplasmic reticulum

(2020) Ben P. Phillips et al.   CURRENT OPINION IN CELL BIOLOGY

The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis

(2019) Xianchi Dong et al.   BLOOD

A GBF1-Dependent Mechanism for Environmentally Responsive Regulation of ER-Golgi Transport

(2019) Mafalda Lopes-da-Silva et al.   DEVELOPMENTAL CELL

Mechanisms and functions of ribosome-associated protein quality control

(2019) Claudio A. P. Joazeiro   NATURE REVIEWS MOLECULAR CELL BIOLOGY

COPII‐mediated trafficking at the ER/ERGIC interface

(2019) Jennifer Peotter et al.   TRAFFIC

Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease

(2019) Shariq Ahmed et al.   HAEMOPHILIA

Characterization of VWF gene conversions causing von Willebrand disease

(2018) Firdos Ahmad et al.   BRITISH JOURNAL OF HAEMATOLOGY

Weibel−Palade bodies at a glance

(2017) Jessica J. McCormack et al.   JOURNAL OF CELL SCIENCE

Clinical and laboratory phenotype variability in type 2M von Willebrand disease

(2017) A. L. Doruelo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Protein quality control at the endoplasmic reticulum

(2016) K. McCaffrey et al.   Essays in Biochemistry

Mutations in the D′D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF

(2016) Tara C. White-Adams et al.   THROMBOSIS RESEARCH

Erratum: Erratum: Weibel-Palade body size modulates the adhesive activity of its von Willebrand Factor cargo in cultured endothelial cells

(2016) Francesco Ferraro et al.   Scientific Reports

von Willebrand factor is dimerized by protein disulfide isomerase

(2015) Svenja Lippok et al.   BLOOD

von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends

(2015) P. J. Lenting et al.   BLOOD

Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor

(2014) Viviana Daidone et al.   THROMBOSIS AND HAEMOSTASIS

von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy

(2013) D. Lillicrap   BLOOD

The molecular characterization of von Willebrand disease: good in parts

(2013) P.D. James et al.   BRITISH JOURNAL OF HAEMATOLOGY

Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease

(2013) H. Yadegari et al.   HAEMATOLOGICA

ON THE VERSATILITY OF VON WILLEBRAND FACTOR

(2013) Peter Lenting   Mediterranean Journal of Hematology and Infectious Diseases

von Willebrand factor (VWF) propeptide binding to VWF D'D3 domain attenuates platelet activation and adhesion

(2012) S. R. Madabhushi et al.   BLOOD

Sequence and structure relationships within von Willebrand factor

(2012) Y.-F. Zhou et al.   BLOOD

Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation

(2012) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients

(2012) Hamideh Yadegari et al.   THROMBOSIS AND HAEMOSTASIS

The pathophysiology of von Willebrand disease: therapeutic implications

(2012) Reinhard Schneppenheim   THROMBOSIS RESEARCH

Functional architecture of Weibel-Palade bodies

(2011) K. M. Valentijn et al.   BLOOD

A pH-regulated dimeric bouquet in the structure of von Willebrand factor

(2011) Yan-Feng Zhou et al.   EMBO JOURNAL

von Willebrand disease

(2011) Paula D James et al.   GENETICS IN MEDICINE

Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation

(2011) J.-W. Wang et al.   HAEMATOLOGICA

von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein

(2011) R. SCHNEPPENHEIM et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

(2010) S. L. Haberichter et al.   BLOOD

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

(2009) A. F. Riddell et al.   BLOOD

Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage

(2009) S. L. HABERICHTER et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

von Willebrand factor assembly and secretion

(2009) J. E. SADLER   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Structural organization of Weibel-Palade bodies revealed by cryo-EM of vitrified endothelial cells

(2009) J. A. Berriman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural basis of cargo membrane protein discrimination by the human COPII coat machinery

(2008) Joseph D Mancias et al.   EMBO JOURNAL

Assembly of Weibel Palade body-like tubules from N-terminal domains of von Willebrand factor

(2008) R.-H. Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Characterization of a novel mutation in the von Willebrand factor propeptide in a distinct subtype of recessive von Willebrand disease

(2008) Elsa Lanke et al.   THROMBOSIS AND HAEMOSTASIS