Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease (Q41808379)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Abraham J Koster

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Richard J Dirven

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Anton Jan van Zonneveld

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Jan Voorberg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Jeroen C J Eikenboom

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Karine M Valentijn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Hetty C de Boer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Pieter H Reitsma

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

language of work or name

English

0 references

publication date

19 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

1 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

286

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

24180-24188

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Von Willebrand disease and Weibel-Palade bodies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Basal secretion of von Willebrand factor from human endothelial cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007).

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

The CXXCXXC motif determines the folding, structure and stability of human Ero1-Lalpha

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Assembly of multimeric von Willebrand factor directs sorting of P-selectin

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Biochemistry and genetics of von Willebrand factor

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Biogenesis of von Willebrand factor-containing organelles in heterologous transfected CV-1 cells.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Culture of human endothelial cells derived from umbilical veins. Identification by morphologic and immunologic criteria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Composition of the von Willebrand factor storage organelle (Weibel-Palade body) isolated from cultured human umbilical vein endothelial cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

von Willebrand factor released from Weibel-Palade bodies binds more avidly to extracellular matrix than that secreted constitutively

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Inducible secretion of large, biologically potent von Willebrand factor multimers

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Induction of specific storage organelles by von Willebrand factor propolypeptide

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

The physiological function of von Willebrand's factor depends on its tubular storage in endothelial Weibel-Palade bodies

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Cysteine-mutations in von Willebrand factor associated with increased clearance

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

An AP-1/clathrin coat plays a novel and essential role in forming the Weibel-Palade bodies of endothelial cells.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Real-time imaging of the dynamics and secretory behavior of Weibel-Palade bodies.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129199

Distribution of HLA class II molecules in epidermal Langerhans cells in situ

30 September 2018

1 reference

12 December 2020

Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin

1 reference

12 December 2020

Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease

1 reference

12 December 2020

An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease

1 reference

12 December 2020

Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease

1 reference

12 December 2020

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

1 reference

12 December 2020

High-pressure freezing provides insights into Weibel-Palade body biogenesis

1 reference

12 December 2020

A new look at Weibel-Palade body structure in endothelial cells using electron tomography

1 reference

12 December 2020

Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor

1 reference

12 December 2020

The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF

1 reference

12 December 2020

von Willebrand factor biosynthesis and partitioning between constitutive and regulated pathways of secretion after thrombin stimulation

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M110.215194

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21596755%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference