B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

Autor: Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven

Publikováno v: Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)

Abstract Background The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to m

Externí odkaz: https://doaj.org/article/9adc7417292e4798a0ee0866d8eaaebd

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Autor: Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers

Publikováno v: PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)

Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 1

Externí odkaz: https://doaj.org/article/bb2cc49db65247d0babb9ce38d7ed980

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy

Autor: Moniek Riemersma, Dirk Lefeber, Erik-Jan Kamsteeg, Else Kragt, Nicol C. Voermans, Michèl A.A.P. Willemsen, Monique van Scherpenzeel, Ellen van Beusekom, Esther Hermans, Jeroen R Vermeulen, Maartje Pennings, Mohammad Alsady, Walinka van Tol, Angel Ashikov, Giorgio Tasca, Hans van Bokhoven

Publikováno v: Clinical Chemistry, 65, 1295-1306
Clinical Chemistry, 65, 10, pp. 1295-1306
Clinical Chemistry, 65(10), 1295-1306. American Association for Clinical Chemistry
van Tol, W, van Scherpenzeel, M, Alsady, M, Riemersma, M, Hermans, E, Kragt, E, Tasca, G, Kamsteeg, E-J, Pennings, M, van Beusekom, E, Vermeulen, J R, van Bokhoven, H, Voermans, N C, Willemsen, M A, Ashikov, A & Lefeber, D J 2019, ' Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy ', Clinical Chemistry, vol. 65, no. 10, pp. 1295-1306 . https://doi.org/10.1373/clinchem.2019.305391
Clinical Chemistry, 65(10), 1295-1306

BACKGROUND Many muscular dystrophies currently remain untreatable. Recently, dietary ribitol has been suggested as a treatment for cytidine diphosphate (CDP)-l-ribitol pyrophosphorylase A (CRPPA, ISPD), fukutin (FKTN), and fukutin-related protein (FK

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b58a2aa442de4665c45625986e6e0416
http://hdl.handle.net/2066/208790

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies

Autor: Tjitske Kleefstra, Michèl A.A.P. Willemsen, Dirk Lefeber, Willemijn M. Wissink-Lindhout, Yalda Jamshidi, Mohammad Reza Abbaszadegan, Lucas T. Jae, Marjolein H. Willemsen, Narges Zhianabed, Moniek Riemersma, Arjan P.M. de Brouwer, Mojila Nasseri, Rolph Pfundt, Benno Küsters, Hans van Bokhoven, Thijn Reinout Brummelkamp, Mahmoud Reza Ashrafi, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi

Publikováno v: Genome Medicine, 9:118. BioMed Central Ltd
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Genome Medicine, 9, 1, pp. 118
Genome Medicine, 9, 118

Background: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, lat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5ff1012b8d77488ba092420cabc2d7
https://cris.maastrichtuniversity.nl/en/publications/b2bd44ef-3164-443b-ab57-93a5a826c23d

Absence of - and -dystroglycan is associated with Walker-Warburg syndrome

Autor: Moniek Riemersma, Shmuel Pietrokovski, Hans van Bokhoven, Tony Roscioli, Ayelet Eran, Isabella Gazzoli, Dirk Lefeber, Ron A. Wevers, Ruth Gershoni-Baruch, Ellen van Beusekom, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Hanna Mandel, Moran Gershoni

Publikováno v: Neurology. 84:2177-2182

Objective: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. Methods: Homozygosity mapping and exome sequencing, followed by Sanger sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb42f1ab78131deba6dfc34c79c56f44
https://doi.org/10.1212/wnl.0000000000001615