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)

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)

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

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

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

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

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Authors: Haijes, H.A., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jans, Judith J.M.

Source: In Molecular Genetics and Metabolism Reports March 2020 22

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Authors: Rumping, Lynne, Pras-Raves, Mia L., Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A., Houwen, Roderick H.J., van Haaften, Gijs, van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.

Source: In BBA - General Subjects March 2020 1864(3)

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Authors: Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.

Source: In Molecular Genetics and Metabolism August 2019 127(4):368-372

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Authors: Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.

Source: In The American Journal of Human Genetics 1 August 2019 105(2):283-301

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid

Authors: Haijes, Hanneke A., van der Ham, Maria, Gerrits, Johan, van Hasselt, Peter M., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.

Source: In Molecular Genetics and Metabolism May 2019 127(1):51-57

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Authors: Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E.H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

Source: In Genetics in Medicine April 2019 21(4):837-849

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Authors: Kuper, Willemijn F. E., Oostendorp, Marlies, van den Broek, Brigitte T. A., van Veghel, Karin, Nonkes, Lourens J. P., Nieuwenhuis, Edward E. S., Fuchs, Sabine A., Veenendaal, Tineke, Klumperman, Judith, Huisman, Albert, Nierkens, Stefan, van Hasselt, Peter M.

Source: JIMD reports. 54(1):87-97

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107568072.0x000001&indx=1&recIds=ETOCvdc_100107568072.0x000001