未登录 Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease Cannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; Rios-Ocampo, W. Alfredo; Gilissen, Christian; Rodenburg, Richard; Jonker, Johan W.; Holleboom, Adriaan G.; Morava, Eva; Veltman, Joris A.; Socha, Piotr; Stevens, Tom H.; Simons, Matias; Lefeber, Dirk J. 分享 收藏
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder Friederich, Marisa W.; Timal, Sharita; Powell, Christopher A.; Dallabona, Cristina; Kurolap, Alina; Palacios-Zambrano, Sara; Bratkovic, Drago; Derks, Terry G. J.; Bick, David; Bouman, Katelijne; Chatfield, Kathryn C.; Damouny-Naoum, Nadine; Dishop, Megan K.; Falik-Zaccai, Tzipora C.; Fares, Fuad; Fedida, Ayalla; Ferrero, Ileana; Gallagher, Renata C.; Garesse, Rafael; Gilberti, Micol; Gonzalez, Cristina; Gowan, Katherine; Habib, Clair; Halligan, Rebecca K.; Kalfon, Limor; Knight, Kaz; Lefeber, Dirk; Mamblona, Laura; Mandel, Hanna; Mory, Adi; Ottoson, John; Paperna, Tamar; Pruijn, Ger J. M.; Rebelo-Guiomar, Pedro F.; Saada, Ann; Sainz, Bruno, Jr.; Salvemini, Hayley; Schoots, Mirthe H.; Smeitink, Jan A.; Szukszto, Maciej J.; ter Horst, Hendrik J.; van den Brandt, Frans; van Spronsen, Francjan J.; Veltman, Joris A.; Wartchow, Eric; Wintjes, Liesbeth T.; Zohar, Yaniv; Fernandez-Moreno, Miguel A.; Baris, Hagit N.; Donnini, Claudia; Minczuk, Michal; Rodenburg, Richard J.; Van Hove, Johan L. K. 分享 收藏
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Osorio, Glentino Rodrigues Pinto; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothee; Ondruskova, Nina; Simon, Marleen E. H.; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Christophe; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Linders, Peter T. A.; van den Bogaart, Geert; van Hijum, Sacha A. F. T.; Rodenburg, Richard; van den Heuvel, Lambertus P.; van Spronsen, Francjan; Honzik, Tomas; Foulquier, Francois; van Scherpenzeel, Monique; Lefeber, Dirk J. 分享 收藏
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Wortmann, Saskia B.; Timal, Sharita; Venselaar, Hanka; Wintjes, Liesbeth T.; Kopajtich, Robert; Feichtinger, Rene G.; Onnekink, Carla; Muhlmeister, Mareike; Brandt, Ulrich; Smeitink, Jan A.; Veltman, Joris A.; Sperl, Wolfgang; Lefeber, Dirk; Pruijn, Ger; Stojanovic, Vesna; Freisinger, Peter; von Spronsen, Francjan; Derks, Terry G. J.; Veenstra-Knol, Hermine E.; Mayr, Johannes A.; Rotig, Agnes; Tarnopolsky, Mark; Prokisch, Holger; Rodenburg, Richard J. 分享 收藏
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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation Jansen, Eric J. R.; Timal, Sharita; Ryan, Margret; Ashikov, Angel; van Scherpenzeel, Monique; Graham, Laurie A.; Mandel, Hanna; Hoischen, Alexander; Iancu, Theodore C.; Raymond, Kimiyo; Steenbergen, Gerry; Gilissen, Christian; Huijben, Karin; van Bakel, Nick H. M.; Maeda, Yusuke; Rodenburg, Richard J.; Adamowicz, Maciej; Crushell, Ellen; Koenen, Hans; Adams, Darius; Vodopiutz, Julia; Greber-Platzer, Susanne; Mueller, Thomas; Dueckers, Gregor; Morava, Eva; Sykut-Cegielska, Jolanta; Martens, Gerard J. M.; Wevers, Ron A.; Niehues, Tim; Huynen, Martijn A.; Veltman, Joris A.; Stevens, Tom H.; Lefeber, Dirk J. 分享 收藏
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation Jansen, Jos C.; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothee; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A. W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P. H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, Francois; Veltman, Joris A.; Lefeber, Dirk J. 分享 收藏
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Perez, Belen; Vicogne, Dorothee; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Perez-Cerda, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cecile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, Francois; Marquardt, Thorsten; Lefeber, Dirk J. 分享 收藏
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency Van Scherpenzeel, Monique; Timal, Sharita; Rymen, Daisy; Hoischen, Alexander; Wuhrer, Manfred; Hipgrave-Ederveen, Agnes; Grunewald, Stephanie; Peanne, Romain; Saada, Ann; Edvardson, Shimon; Gronborg, Sabine; Ruijter, George; Kattentidt-Mouravieva, Anna; Brum, Jaime Moritz; Freckmann, Mary-Louise; Tomkins, Susan; Jalan, Anil; Prochazkova, Dagmar; Ondruskova, Nina; Hansikova, Hana; Willemsen, Michel A.; Hensbergen, Paul J.; Matthijs, Gert; Wevers, Ron A.; Veltman, Joris A.; Morava, Eva; Lefeber, Dirk J. 分享 收藏
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 磷酸葡萄糖变现酶1缺乏症的多种表型 Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing Timal, Sharita; Hoischen, Alexander; Lehle, Ludwig; Adamowicz, Maciej; Huijben, Karin; Sykut-Cegielska, Jolanta; Paprocka, Justyna; Jamroz, Ewa; van Spronsen, Francjan J.; Koerner, Christian; Gilissen, Christian; Rodenburg, Richard J.; Eidhof, Ilse; Van den Heuvel, Lambert; Thiel, Christian; Wevers, Ron A.; Morava, Eva; Veltman, Joris; Lefeber, Dirk J. 分享 收藏
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome Ugalde, Cristina; Hinttala, Reetta; Timal, Sharita; Smeets, Roel; Rodenburg, Richard J. T.; Uusimaa, Johanna; van Heuvel, Lambert P.; Nijtmans, Leo G. J.; Majamaa, Karl; Smeitink, Jan A. M. 分享 收藏
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