Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

Autor: Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini

Publikováno v: HGG Advances, Vol 5, Iss 4, Pp 100327- (2024)

Summary: Nuclear pore complexes (NPCs) regulate nucleocytoplasmic transport and are anchored in the nuclear envelope by the transmembrane nucleoporin NDC1. NDC1 is essential for post-mitotic NPC assembly and the recruitment of ALADIN to the nuclear e

Externí odkaz: https://doaj.org/article/9f3b1b2ba0654a18ab9998275e27df6d

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

Autor: Inge Cuppen, Jos G.M. Hendriksen, Johanna M. Fock, Bregje Jaeger, Anita Vreugdenhil, Erik H. Niks, Nicky Platte-van Attekum, Desiree Vrijens, Judith M. Lionarons, Catharina G. Faber, Johan S.H. Vles, Evita G. Medici-van den Herik, Frans J. M. Feron, Sylvia Klinkenberg, Rinske Hoogerhuis, Imelda J. M. de Groot

Publikováno v: Life, 11(8):772. MDPI AG
Life
Life (Basel, Switzerland), 11(8):772. Multidisciplinary Digital Publishing Institute (MDPI)
Life, 11(8):772. MDPI Multidisciplinary Digital Publishing Institute
Life, Vol 11, Iss 772, p 772 (2021)
Life, 11(8). MDPI
Life, 11
Volume 11
Issue 8
Life, 11(8):772. Multidisciplinary Digital Publishing Institute (MDPI)
Lionarons, J M, de Groot, I J M, Fock, J M, Klinkenberg, S, Vrijens, D M J, Vreugdenhil, A C E, Medici-Van Den Herik, E G, Cuppen, I, Jaeger, B, Niks, E H, Hoogerhuis, R, Platte-Van Attekum, N, Feron, F J M, Faber, C G, Hendriksen, J G M & Vles, J S H 2021, ' Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire ', Life, vol. 11, no. 8, 772 . https://doi.org/10.3390/life11080772
Life, 11, 8

Introduction: Lower urinary tract symptoms (LUTS) and gastrointestinal (GI) problems are common in Duchenne muscular dystrophy (DMD), but not systematically assessed in regular care. We aimed to determine the prevalence of bladder and bowel dysfuncti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bce5b0566e0fd10a077a7bd35bb9298
https://research.rug.nl/en/publications/1ab02b8e-5d27-4b12-bb7f-368f0bf02eee