In vivo monitoring of mRNA movement in Drosophila body wall muscle cells reveals the presence of myofiber domains.

Autor: Alice M C van Gemert, Annelies M A van der Laan, Gonneke S K Pilgram, Lee G Fradkin, Jasprina N Noordermeer, Hans J Tanke, Carolina R Jost

Publikováno v: PLoS ONE, Vol 4, Iss 8, p e6663 (2009)

BACKGROUND:In skeletal muscle each muscle cell, commonly called myofiber, is actually a large syncytium containing numerous nuclei. Experiments in fixed myofibers show that mRNAs remain localized around the nuclei in which they are produced. METHODOL

Externí odkaz: https://doaj.org/article/520d98a08b6c4778916ca6cd8c7511e3

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

Autor: Ellie Karampini, Petra E. Bürgisser, Jenny Olins, Aat A. Mulder, Carolina R. Jost, Dirk Geerts, Jan Voorberg, Ruben Bierings

Publikováno v: Haematologica, Vol 106, Iss 4 (2020)

Von Willebrand factor (VWF) is a multimeric hemostatic protein that is synthesized in endothelial cells, where it is stored for secretion in elongated secretory organelles, so-called Weibel-Palade bodies (WPBs). Hemostatic activity of VWF is strongly

Externí odkaz: https://doaj.org/article/4fd55f316d8743fa93e38a362564d170

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients

Autor: Julie W. Rutten, Annemieke Aartsma-Rus, Maurice Overzier, Johannes G. Dauwerse, Frank Baas, Gido Gravesteijn, Saskia A J Lesnik Oberstein, Mark C. Kruit, Sjoerd G. van Duinen, Aat A. Mulder, Gwendolyn Brouwer, Ingrid M Hegeman, Carolina R. Jost, Gisela M. Terwindt

Publikováno v: Human molecular genetics, 29(11), 1853-1863. Oxford University Press
Human Molecular Genetics, 29(11), 1853-1863. OXFORD UNIV PRESS
Human Molecular Genetics

CADASIL is a vascular protein aggregation disorder caused by cysteine-altering NOTCH3 variants, leading to mid-adult-onset stroke and dementia. Here, we report individuals with a cysteine-altering NOTCH3 variant that induces exon 9 skipping, mimickin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26330e58697822b18aeb6110cef5d93
https://doi.org/10.1093/hmg/ddz285

High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II

Autor: Marcella van Hoolwerff, Aat A. Mulder, Christian Freund, Farshid Guilak, Ingrid Meulenbelt, H. Eka D. Suchiman, Marga J. Bouma, Roman I. Koning, Yolande F M Ramos, Carolina R. Jost, Alejandro Rodríguez Ruiz

Publikováno v: Science Advances, 7(45). AMER ASSOC ADVANCEMENT SCIENCE

Osteoarthritis is the most prevalent joint disease worldwide, yet progress in development of effective disease-modifying treatments is slow because of lack of insight into the underlying disease pathways. Therefore, we aimed to identify the causal pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f29a62c5a5c594303e85f0fd09c40b
http://hdl.handle.net/1887/3257104

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

Autor: Julie W. Rutten, Aat A. Mulder, Gido Gravesteijn, Ingrid M Hegeman, Remco J. Hack, Carolina R. Jost, Saskia A J Lesnik Oberstein, Remco van Doorn, Minne N Cerfontaine

Publikováno v: Neuropathology and Applied Neurobiology, 48(1). WILEY

Aims CADASIL, the most prevalent hereditary cerebral small vessel disease, is caused by cysteine-altering NOTCH3 variants (NOTCH3(cys)) leading to vascular NOTCH3 protein aggregation. It has recently been shown that variants located in one of NOTCH3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6775ffd247efe40950d9614fa0688b
https://hdl.handle.net/1887/3213211