[HTML][HTML] Glycosylation sterically inhibits platelet adhesion to von Willebrand factor without altering intrinsic conformational dynamics

A Tischer, VR Machha, L Moon‐Tasson… - Journal of Thrombosis …, 2020 - Elsevier
Background A molecular basis for von Willebrand factor (VWF) self‐inhibition has been
proposed by which the N‐terminal and C‐terminal flanking sequences of the globular A1 …

Enhanced local disorder in a clinically elusive von willebrand factor provokes high-affinity platelet clumping

A Tischer, VR Machha, JP Frontroth, MA Brehm… - Journal of molecular …, 2017 - Elsevier
Mutation of the cysteines forming the disulfide loop of the platelet GPIbα adhesive A1
domain of von Willebrand factor (VWF) causes quantitative VWF deficiencies in the blood …

Prediction of binding characteristics between von Willebrand factor and platelet glycoprotein Ibα with various mutations by molecular dynamic simulation

S Goto, H Oka, K Ayabe, H Yabushita, M Nakayama… - Thrombosis …, 2019 - Elsevier
Introduction Binding of platelet glycoprotein (GP) Ibα with von-Willebrand factor (VWF)
exclusively mediates the initial platelet adhesion to injured vessel wall. To understand the …

Evidence for the misfolding of the a1 domain within multimeric von Willebrand factor in type 2 von Willebrand disease

A Tischer, MA Brehm, VR Machha… - Journal of molecular …, 2020 - Elsevier
Von Willebrand factor (VWF), an exceptionally large multimeric plasma glycoprotein,
functions to initiate coagulation by agglutinating platelets in the blood stream to sites of …

A p. Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD

L Bury, E Falcinelli, H Kuchi Bhotla… - Blood …, 2022 - ashpublications.org
Abstract Gain-of-function (GOF) variants in GP1BA cause platelet-type von Willebrand
disease (PT-VWD), a rare inherited autosomal dominant bleeding disorder characterized by …

The von willebrand factor a1–collagen III interaction is independent of conformation and type 2 von willebrand disease phenotype

VR Machha, A Tischer, L Moon-Tasson… - Journal of molecular …, 2017 - Elsevier
The blood von Willebrand factor (VWF) mediates platelet adhesion to injured vessels by
sequestering platelets from blood flow and depositing them to collagen and other exposed …

[HTML][HTML] Platelet‐type von Willebrand disease: Local disorder of the platelet GPIbα β‐switch drives high‐affinity binding to von Willebrand factor

A Tischer, VR Machha, L Moon‐Tasson… - Journal of Thrombosis and …, 2019 - Elsevier
Background Mutations in the β‐switch of GPIbα cause gain‐of‐function in the platelet‐type
von Willebrand disease. Structures of free and A1‐bound GPIbα suggest that the β‐switch …

Análisis genético y epigenético de enfermedades heredadas o influenciadas por el ambiente: dos ejemplos

DC Polanía Villanueva - 2018 - repositorio.uniandes.edu.co
La presente tesis doctoral propone dos ejemplos para estudiar enfermedades heredadas o
influenciadas por el ambiente. Desde una perspectiva epigenética, se estudió la metilación …