Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan
| العنوان: | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan |
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| المؤلفون: | Ellen van Beusekom, Margit Schraders, Rolph Pfundt, Danijela Petković Ramadža, Christa van den Elzen, Han G. Brunner, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Michael F. Buckley, Karen Buysse, Grazia M.S. Mancini, Eamonn Sheridan, Derek L. Stemple, Christopher P. Bennett, Hans van Bokhoven, Paul Delrée, Yung-Yao Lin, Gita M. B. Tan-Sindhunata, Osama Abd El-Fattah El-Hashash, Dirk J. Lefeber, Joris A. Veltman, Christian Gilissen, Hülya Kayserili, Koenraad Devriendt, Christine E. M. de Die-Smulders, Jeroen van Reeuwijk, Isabelle Maystadt, Erik-Jan Kamsteeg, David Chitayat, Els A. J. Peeters, Umut Altunoglu, Moniek Riemersma, Bernard Grisart, Tony Roscioli, Huiqing Zhou |
| المساهمون: | Human genetics, Other Research, Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Public Health, Clinical Genetics |
| المصدر: | Nature Genetics, 44, 581-5 Roscioli, T, Kamsteeg, E J, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, L E L M, Schraders, M, Altunoglu, U, Buckley, M F, Brunner, H G, Grisart, B, Zhou, H Q, Veltman, J A, Gilissen, C, Mancini, G M S, Delree, P, Willemsen, M A, Ramadza, D P, Chitayat, D, Bennett, C, Sheridan, E, Peeters, E A J, Tan-Sindhunata, M B, de Die-Smulders, C E, Devriendt, K, Kayserili, H, El-Hashash, O A, Stemple, D L, Lefeber, D J, Lin, Y Y & van Bokhoven, H 2012, ' Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan ', Nature Genetics, vol. 44, no. 5, pp. 581-585 . https://doi.org/10.1038/ng.2253Test Nature Genetics, 44(5), 581-585. Nature Publishing Group Nature Genetics, 44(5), 581-+. Nature Publishing Group Nature genetics Nature Genetics, 44, 5, pp. 581-5 Nature Genetics; Vol 44 |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Embryo, Nonmammalian, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Muscle Fibers, Skeletal, Walker-Warburg syndrome, O-glycosylation, ISPD gene, medicine.disease_cause, Eye, Mannosyltransferases, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Zebrafish, Genetics, 0303 health sciences, Mutation, Fukutin-related protein, biology, Brain, Walker-Warburg Syndrome, musculoskeletal system, Phenotype, Child, Preschool, Congenital muscular dystrophy, musculoskeletal diseases, animal structures, DCN MP - Plasticity and memory, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, medicine, Animals, Humans, Walker–Warburg syndrome, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery |
| الوصف: | Contains fulltext : 108772.pdf (Publisher’s version ) (Open Access) Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates. |
| وصف الملف: | application/pdf |
| تدمد: | 1061-4036 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e284bf358b33bcd86598fbcd6a329e8Test https://hdl.handle.net/2066/108772Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1e284bf358b33bcd86598fbcd6a329e8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10614036 |
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