Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease

por Boerrigter, Melissa M., Duijzer, Renée, te Morsche, René H. M., Drenth, Joost P. H.
Publicado 2023

Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum

por Boerrigter, Melissa M., te Morsche, René H. M., Venselaar, Hanka, Pastoors, Nikki, Geerts, Anja M., Hoorens, Anne, Drenth, Joost P. H.
Publicado 2023

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

por McTiernan, Nina, Tranebjærg, Lisbeth, Bjørheim, Anna S., Hogue, Jacob S., Wilson, William G., Schmidt, Berkley, Boerrigter, Melissa M., Nybo, Maja L., Smeland, Marie F., Tümer, Zeynep, Arnesen, Thomas
Publicado 2022

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

por Duarri, Anna, Nibbeling, Esther A. R., Fokkens, Michiel R., Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C., Kremer, Berry P. H., van de Warrenburg, Bart P., Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J., Verbeek, Dineke S.
Publicado 2015

A TGFβ-ECM-Integrin signalling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

por Waddell, Scott H, Yao, Yuelin, Olaizola, Paula, Walker, Alexander, Jarman, Edward J, Gournopanos, Konstantinos, Gradinaru, Andreea, Christodoulou, Ersi, Gautier, Philippe, Boerrigter, Melissa M, Cadamuro, Massimiliano, Fabris, Luca, Drenth, Joost PH, Kendall, Timothy J, Banales, Jesus M, Khamseh, Ava, Mill, Pleasantine, Boulter, Luke
Publicado 2023