Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sander Pajusalu"'
Autor:
Marios P. Stavridis, Mehmet Gundogdu, Sergio G. Bartual, Daan M. F. van Aalten, Andrew T. Ferenbach, Riina Žordania, Katrin Õunap, Veronica M. Pravata, Monica H. Wojcik, Sander Pajusalu
Publikováno v:
Febs Letters
'FEBS Letters ', vol: 594, pages: 717-727 (2020)
'FEBS Letters ', vol: 594, pages: 717-727 (2020)
X‐linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O‐GlcNAc transferase encoded by OGT, a recently discovered XLID gene, attaches O‐GlcNAc to nuclear and cytoplasmic proteins. As few missense mutations have
Autor:
Audrey Ker Shin Soo, Sanna Puusepp, Niccolo E. Mencacci, Burcu Atasu, Joaquin Campos, Jinye Dai, Nicholas W. Wood, Javier Simón-Sánchez, Alan M. Pittman, Manju A Kurian, Ebba Lohmann, Katrin Õunap, Thomas Gasser, Dimitri Krainc, Liis Kadastik-Eerme, Karit Reinson, Thomas T. Warner, Arianna Tucci, Thomas C. Südhof, Bettina Balint, Christopher Patzke, Michael Schwake, Reet Rein, Apostolos Papandreou, Paulina Gonzalez-Latapi, Sarah Wiethoff, Claudio Acuna, Gemma L. Carvill, Sander Pajusalu, Hasmet Hanagasi, Christian Rosenmund, Tiiu Tomberg, Kailash P. Bhatia, Marisa M Brockmann, Gabriela Pino
Publikováno v:
J Clin Invest
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as
Autor:
Ebba Lohmann, Karit Reinson, Sanna Puusepp, Niccolo E. Mencacci, Michael Schwake, Christian Rosenmund, Marisa M Brockmann, Burcu Atasu, Hasmet Hanagasi, Katrin Õunap, Christopher Patzke, Thomas W Warner, Liis Kadastik-Eerme, Apostolos Papandreou, Alan Pittmann, Sarah Wiethoff, Thomas Gasser, Paulina Gonzalez-Latapi, Kailash P. Bhatia, Bettina Balint, Arianna Tucci, Reet Rein, Gemma L. Carvill, Sander Pajusalu, Nicholas W. Wood, Manju A. Kurian, Gabriela Pino, Audrey Ker Shin Soo, Javier Simón-Sánchez, Thomas C. Südhof, Joaquin Campos, Dimitri Krainc, Jinye Dai, Tiiu Tomberg, Claudio Acuna
Dystonia is a debilitating hyperkinetic movement disorder, frequently transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants inTSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1894dafc0a2d585a79b7dbf3199a239
https://doi.org/10.1101/2020.05.24.086215
https://doi.org/10.1101/2020.05.24.086215
Autor:
Geert van den Bogaart, Karin Huijben, Katrin Õunap, Olga Fjodorova, Eveline C F Gerretsen, Natalia H. Revelo, Fokje Zijlstra, Richard Arts, Mari-Anne Vals, Kimiyo Raymond, Dirk Lefeber, Angel Ashikov, Sander Pajusalu, Peter T. A. Linders, Kai Muru, Martin ter Beest, Melissa Baerenfaenger
The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, theSTX5mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8868b7432023872fd3fe8b1cdd32eaa
https://doi.org/10.1101/2020.03.30.20044438
https://doi.org/10.1101/2020.03.30.20044438
Autor:
Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
Publikováno v:
Genetics in Medicine, 21, 2723. Lippincott Williams and Wilkins
Genetics in medicine, 21(12), 2723-2733. Lippincott Williams and Wilkins
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21(12), 2723-2733. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 2723-2733
Genetics in Medicine, 21(12), 2723-2733. Nature Publishing Group
Genetics in Medicine, 21, 12, pp. 2723-2733
Genetics in Medicine
Genetics in medicine, 21(12), 2723-2733. Lippincott Williams and Wilkins
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21(12), 2723-2733. Lippincott Williams & Wilkins
Genetics in Medicine, 21, 2723-2733
Genetics in Medicine, 21(12), 2723-2733. Nature Publishing Group
Genetics in Medicine, 21, 12, pp. 2723-2733
Genetics in Medicine
PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9479b09188c08a5817cfef39764495
https://dspace.library.uu.nl/handle/1874/391976
https://dspace.library.uu.nl/handle/1874/391976
Autor:
Benjamin Cogné, Stephen Sanders, François Rivier, Tahir N. Khan, Mireille Claustres, Gaetan Lesca, Lihadh Al-Gazali, Annick Vogels, Sarah Weckhuysen, Nicholas Katsanis, Stéphane Bézieau, Thomas Besnard, Maxime Cadieux-Dion, Julitta de Bellescize, Katrin Õunap, Anne Boland, Aurora Pujol, Monica H. Wojcik, Maria J. Guillen Sacoto, Paul Rollier, Laurent Pasquier, Bertrand Isidor, Sébastien Küry, Hilde Van Esch, Aisha Al Shamsi, Megan T. Cho, Kyle Retterer, Michel Koenig, Christèle Dubourg, Andreas G. Chiocchetti, Damien Sanlaville, Erica E. Davis, Claire Guissart, Sander Pajusalu, Hannah Stamberger, Xenia Latypova, Shannon Sattler, Souphatta Sasorith, Isabelle Thiffault, Marie Vincent, Nicolas Leboucq, Irman Forghani, Lynn Schema, Sylvie Odent, Marie T. McDonald, Lauren E. Grote, Susanne Kjaergaard, Wilfrid Carré, Rena Pressman, Emily G. Farrow, Jean-François Deleuze, Carol J Saunders, Deborah Barbouth, Danielle Karlowicz, Nicole P. Safina, Kirsty McWalter, Christine M. Freitag, Wim Van Paesschen, Rebecca Willaert
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
Dipòsit Digital de la UB
Universidad de Barcelona
The American journal of human genetics
American Journal of Human Genetics, 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
American journal of human genetics, vol 102, iss 5
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
Dipòsit Digital de la UB
Universidad de Barcelona
The American journal of human genetics
American Journal of Human Genetics, 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
American journal of human genetics, vol 102, iss 5
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to res
Autor:
Carsten G. Bönnemann, Janis Stavusis, Baiba Lace, Nathan T. Wright, Jochen Schäfer, Dietrich Haubenberger, Aikaterini Kontrogianni-Konstantopoulos, Annika Saak, Janelle Geist, Manja Weinhold, Dita Kidere, Sandra Jackson, Inna Inashkina, Sander Pajusalu
Publikováno v:
Ann Neurol
Objective To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. Methods Clinical evaluations as well as exome and panel sequencing analyses were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bea6476631230c2ca616af6eb0d1da
https://europepmc.org/articles/PMC6685440/
https://europepmc.org/articles/PMC6685440/
Autor:
Kai Muru, Tiia Reimand, Monica H. Wojcik, Imbi Kuus, Sander Pajusalu, Pilvi Ilves, Katrin Õunap, Eve Õiglane-Shlik
Publikováno v:
Eur J Med Genet
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A homozygous missense substitution p.Ser31Leu in ZNHIT3 was recently identified as the primary