Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients

Authors: Muffels, Irena.J.J. ^{1, ∗}, Rodenburg, Richard ², Willemen, Hanneke L.D. ³, van Haaften-Visser, Désirée ⁴, Waterham, Hans ^{5, 6}, Eijkelkamp, Niels ³, Fuchs, Sabine A. ^{1, 5, 7}, van Hasselt, Peter M. ^{1, 5, 7, 8, ∗∗}

Source: In iScience 17 January 2025 28(1)

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS

Authors: van der Ham, Maria ^{a, 1}, Hoytema van Konijnenburg, Eva ^{b, 1}, van Rossum, Wouter ^a, Gerrits, Johan ^a, van Hasselt, Peter ^b, Prinsen, Hubertus ^a, Jans, Judith ^a, Schlotawa, Lars ^{c, d}, Laugwitz, Lucia ^{e, f}, de Sain-van der Velden, Monique ^{a, ⁎}

Source: In Analytica Chimica Acta 8 May 2025 1350

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Authors: Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.

Source: In The American Journal of Human Genetics 4 April 2024 111(4):761-777

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Authors: Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias

Source: In Genetics in Medicine April 2024 26(4)

UPLC-Orbitrap-HRMS application for analysis of plasma sterols

Authors: van der Ham, Maria, Gerrits, Johan, Prinsen, Berthil, van Hasselt, Peter, Fuchs, Sabine, Jans, Judith, Willems, Anke, de Sain-van der Velden, Monique

Source: In Analytica Chimica Acta 1 April 2024 1296

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

Authors: Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., Groeschel, Samuel

Source: In European Journal of Paediatric Neurology March 2024 49:141-154

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports

Authors: Ferreira, Elise A., Hofstede, Floris C., Haijes-Siepel, Hanneke A., Lichtenbelt, Klaske D., Pistorius, Lou, de Sain-van der Velden, Monique G.M., Nikkels, Peter G.J., Lequin, Maarten H., de Vries, Linda S., van der Crabben, Saskia N., van Hasselt, Peter M.

Source: In Genetics in Medicine Open 2024 2

Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

Authors: van Berkel, Annemiek Arienne, Lammertse, Hanna Charlotte Andrea, Öttl, Miriam, Koopmans, Frank, Misra-Isrie, Mala, Meijer, Marieke, Dilena, Robertino, van Hasselt, Peter Marin, Engelen, Marc, van Haelst, Mieke, Smit, August Benjamin, van der Sluis, Sophie, Toonen, Ruud Franciscus, Verhage, Matthijs

Source: In Biological Psychiatry Global Open Science January 2024 4(1):284-298

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Authors: Muffels, Irena J.J., Schene, Imre F., Rehmann, Holger, Massink, Maarten P.G., van der Wal, Maria M., Bauder, Corinna, Labeur, Martha, Armando, Natalia G., Lequin, Maarten H., Houben, Michiel L., Giltay, Jaques C., Haitjema, Saskia, Huisman, Albert, Vansenne, Fleur, Bluvstein, Judith, Pappas, John, Shailee, Lala V., Zarate, Yuri A., Mokry, Michal, van Haaften, Gijs W., Nieuwenhuis, Edward E.S., Refojo, Damian, van Wijk, Femke, Fuchs, Sabine A., van Hasselt, Peter M.

Source: American journal of human genetics. 110(1):146-160

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190066170.0x000001&indx=1&recIds=ETOCvdc_100190066170.0x000001

Isolated neurological presentations of mevalonate kinase deficiency

Authors: Hoytema van Konijnenburg, Eva M. M., Oussoren, Esmeralda, Frenkel, Joost, van Hasselt, Peter M.

Source: JIMD reports. 64(1):53-56

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185770693.0x000001&indx=1&recIds=ETOCvdc_100185770693.0x000001

ASSiST - A Superconducting Fault Current Limiter in a Public Electric Power Grid

Authors: Kraemer, Hans, Bauer, Anne, Frank, Michael, van Hasselt, Peter, Kummeth, Peter, Wohlfart, Manfred, Schacherer, Christian, Arndt, Tabea, Janetschek, Thomas

Source: IEEE transactions on power delivery. 37(1):612-618

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139154757.0x000001&indx=1&recIds=ETOCvdc_100139154757.0x000001

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.

Authors: Muffels, Irena Josephina Johanna, Waterham, Hans R., D'Alessandro, Giuseppina, Zagnoli-Vieira, Guido, Sacher, Michael, Lefeber, Dirk J., Van der Vinne, Celine, Roifman, Chaim M., Gassen, Koen L. I., Rehmann, Holger, Van Haaften-Visser, Desiree Y., Nieuwenhuis, Edward S. S., Jackson, Stephen P., Fuchs, Sabine A., Wijk, Femke, van Hasselt, Peter

Source: Genome Medicine; 2/7/2025, Vol. 17 Issue 1, p1-21, 21p

Subject Terms: DOUBLE-strand DNA breaks, MOLECULES, CYTOLOGY, LIFE sciences, FUNCTIONAL genomics

Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in MED13L syndrome fibroblasts

Authors: Chang, Kai-Ti, Jezek, Jan, Campbell, Alicia N., Stieg, David C., Kiss, Zachary A., Kemper, Kevin, Jiang, Ping, Lee, Hyung-Ok, Kruger, Warren D., van Hasselt, Peter M., Strich, Randy

Source: In iScience 18 February 2022 25(2)

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series

Authors: Zerjav Tansek, Mojca, Kodric, Jana, Klemencic, Simona, Boelens, Jaap Jan, van Hasselt, Peter M., Drole Torkar, Ana, Doric, Maja, Koren, Alenka, Avcin, Simona, Battelino, Tadej, Groselj, Urh

Source: In Molecular Genetics and Metabolism Reports September 2021 28

Novel Orally Formulated Mixed Micelles Optimize Vitamin K Absorption Under Bile-Deficient Conditions

Authors: Rodriguez, M., Sun, F., Oussoren, C., Slot, T.K., van der Ham, M., Janssens, G.E.P.J., de Sain-van der Velden, M.G.M., Houwen, R.H.J., de Koning, T.J., Hennink, W.E., Rooimans, Thijs, Minderhoud, Tanca, Leal, Nerea, Vromans, Herman, van Nostrum, Cornelus, van Hasselt, Peter

Source: In Gastroenterology September 2021 161(3):1056-1059

Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses

Authors: van den Broek, Brigitte T.A., Lindemans, Caroline A., Boelens, Jaap Jan, Delemarre, Eveline M., Drylewicz, Julia, Verhoeven-Duif, Nanda, van Hasselt, Peter M. ^*, Nierkens, Stefan ^{*, *}

Source: In Blood Advances 24 August 2021 5(16):3092-3101

Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

Authors: Schoenmakers, Daphne H, Beerepoot, Shanice, Adang, Laura A, Asbreuk, Marije A B C, Bergner, Caroline G, Bley, Annette E, Boelens, Jaap-Jan, Calbi, Valeria, Darling, Alejandra, Eklund, Erik, García Cazorla, Ángeles, Grønborg, Sabine W, Groeschel, Samuel, van Hasselt, Peter M, Hollak, Carla E M, Horgan, Claire, Jones, Simon, de Koning, Tom, Laugwitz, Lucia, Lindemans, Caroline, Martin, Pascal, Mochel, Fanny, Øberg, Andreas, Ram, Dipak, Sevin, Caroline, Schöls, Ludger, Zerem, Ayelet, Wolf, Nicole I, Fumagalli, Francesca

Source: Protein & Cell; January 2025, Vol. 16 Issue: 1 p12-15, 4p

Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency

Authors: Naber, Myrthe, Hellebrekers, Debby, Nievelstein, Rutger A.J., van Hasselt, Peter M., van Jaarsveld, Richard H., Cuppen, Inge, Oegema, Renske

Source: In European Journal of Medical Genetics January 2021 64(1)

Hurdles in treating Hurler disease: potential routes to achieve a “real” cure

Authors: van den Broek, Brigitte T.A., van Doorn, Jaap, Hegeman, Charlotte V., Nierkens, Stefan, Lindemans, Caroline A., Verhoeven-Duif, Nanda, Boelens, Jaap Jan, van Hasselt, Peter M.

Source: In Blood Advances 23 June 2020 4(12):2837-2849

Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation

Authors: van den Broek, Brigitte T.A., van Egmond-Ebbeling, Michelle B., Achterberg, Jens A., Boelens, Jaap Jan, Vlessert, Isa C., Prinsen, Hubertus C.M.T., van Doorn, Jaap, van Hasselt, Peter M.

Source: In Biology of Blood and Marrow Transplantation May 2020 26(5):928-935