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

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair

Autor: Steven Bergink, Lies-Anne Severijnen, Nils Wijgers, Kaoru Sugasawa, Humaira Yousaf, Johan M. Kros, John van Swieten, Ben A. Oostra, Jan H. Hoeijmakers, Wim Vermeulen, Rob Willemsen

Publikováno v: Neurobiology of Disease, Vol 23, Iss 3, Pp 708-716 (2006)

Intracellular inclusions play a profound role in many neurodegenerative diseases. Here, we report that HR23B and HR23A, proteins that are involved in both DNA repair and shuttling proteins to the 26S proteasome for degradation, accumulate in neuronal

Externí odkaz: https://doaj.org/article/3745910c010e4c4ea7ef66e775436bb7

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

Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish.

Autor: Tianna Zhao, Herma Zondervan-van der Linde, Lies-Anne Severijnen, Ben A Oostra, Rob Willemsen, Vincenzo Bonifati

Publikováno v: PLoS ONE, Vol 7, Iss 11, p e48911 (2012)

Recessive mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, a mendelian form of early-onset, levodopa-responsive parkinsonism with severe loss of nigrostriatal dopaminergic neurons. However, the function of the protein encoded by FBXO7

Externí odkaz: https://doaj.org/article/27a81de30a274fc8b9975f9748f1fc7c

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