Hair root FMRP expression for screening of fragile X full mutation females

Autor: Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen

Publikováno v: Universa Medicina, Vol 30, Iss 1, Pp 11-21 (2016)

The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome. Antibody test

Externí odkaz: https://doaj.org/article/6c0dd384b6b5400ab02b3e1842c471c5

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

Autor: Saif N Haify, Valerie Boumeester, Rob Willemsen, Lies-Anne Severijnen, Lucas Verwegen, Wang Yong Yang, Ronald A.M. Buijsen, Michael D. Cameron, Helen de Boer, Matthew D. Disney, Roos Monshouwer, Renate K. Hukema

Publikováno v: Human Molecular Genetics, 30(17), 1632-1648. Oxford University Press
Human Molecular Genetics

Fragile X-associated tremor and ataxia syndrome (FXTAS) is a late-onset, progressive neurodegenerative disorder characterized by tremors, ataxia and neuropsychological problems. This disease is quite common in the general population with approximatel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acbfcccb397f78d5322c5f7541aacd7a
https://pure.eur.nl/en/publications/1a31d32c-853f-43f2-8f4c-a77f4cac7471

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Autor: Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy

Publikováno v: Neurobiology of Disease, Vol 21, Iss 2, Pp 346-357 (2006)

It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel th

Externí odkaz: https://doaj.org/article/351b44427f144ba98db648d0af6a7597

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Autor: R. Jeroen Pasterkamp, Wim Vermeulen, Lies Anne Severijnen, Rob Willemsen, Shamiram Melhem, Fréderike W. Riemslagh, Hannes Lans, Eleonora Aronica, John C. van Swieten, Harro Seelaar

Publikováno v: Acta neuropathologica communications (online), 7:39. BioMed Central Ltd.
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-13 (2019)
Acta neuropathologica communications, 7(1). BioMed Central
Acta Neuropathologica Communications

Human homologue of yeast UV excision repair protein Rad23b (HR23B) inclusions are found in a number of neurodegenerative diseases, including frontotemporal dementia (FTD), Huntington’s disease (HD), spinocerebellar ataxia type 3 and 7 (SCA3/7), fra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bf9c871ce9c9aee38b493f82808b0b4
http://www.scopus.com/inward/record.url?scp=85062867044&partnerID=8YFLogxK

Additional file 7 of HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Riemslagh, Frederike, Lans, Hannes, Seelaar, Harro, Lies-Anne Severijnen, Melhem, Shamiram, Vermeulen, Wim, Aronica, Eleonora, R. Pasterkamp, Swieten, John, Willemsen, Rob

Figure S4 Pur-alpha staining in C9FTD cases and non-demented controls. Pur-alpha staining reveals abundant stress granules in both C9ORF72 FTD cases (n = 5) and non-demented controls (n = 3) post-mortem brain sections. All scale bars are 20 μm. (PDF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7551f78c31d781b3d4997cae3615df11