Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.

Autor: Menno H Schut, Stefano Patassini, Eric H Kim, Jocelyn Bullock, Henry J Waldvogel, Richard L M Faull, Barry A Pepers, Johan T den Dunnen, Gert-Jan B van Ommen, Willeke M C van Roon-Mom

Publikováno v: PLoS ONE, Vol 12, Iss 6, p e0178556 (2017)

Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in Huntington disease pathogenesis. Ideally, these f

Externí odkaz: https://doaj.org/article/9a7865e958a0411b9180dd6c69cff94c

Frequency of nuclear mutant huntingtin inclusion formation in neurons and glia is cell-type-specific:Huntington Aggregation in Neurons and Glia

Autor: Menno H. Schut, Wilfred F. A. den Dunnen, Donna L. Smith, Eric Reits, Elly M. Hol, Gillian P. Bates, Willem Kamphuis, Willeke M. C. van Roon, Anna-Aster de Ruiter, Hendrikus Boddeke, Corien Grit, Anne H. P. Jansen, Nieske Brouwer, Romy T. Meier, Ilse C. op den Kelder, Maurik van Hal

Publikováno v: Jansen, A H P, Van Hal, M, Op Den Kelder, I C, Meier, R T, De Ruiter, A, Schut, M H, Smith, D L, Grit, C, Brouwer, N, Kamphuis, W, Boddeke, H W G M, Den Dunnen, W F A, Van Roon, W M C, Bates, G P, Hol, E M & Reits, E A 2016, ' Frequency of nuclear mutant huntingtin inclusion formation in neurons and glia is cell-type-specific : Huntington Aggregation in Neurons and Glia ', Glia . https://doi.org/10.1002/glia.23050
Glia

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder that is caused by a CAG expansion in the Huntingtin (HTT) gene, leading to HTT inclusion formation in the brain. The mutant huntingtin protein (mHTT) is ubiquitou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd8a221357b45d0161481de6423ab55
https://kclpure.kcl.ac.uk/ws/files/56999913/Frequency_of_nuclear_mutant_JANSEN_Accepted_8Aug2016_GOLD_VoR.pdf

Making (anti-) sense out of huntingtin levels in Huntington disease

Autor: Menno H. Schut, Richard L.M. Faull, Melvin M. Evers, Melek Atalar, Raymund A.C. Roos, Martine J. van Belzen, Willeke M. C. van Roon-Mom, Barry A. Pepers

Publikováno v: Molecular Neurodegeneration, 10
Molecular Neurodegeneration
Journal of Neurology, Neurosurgery and Psychiatry, 85, A10-A10

Background Huntington disease (HD) is an autosomal dominant neurodegenerative disorder, characterized by motor, psychiatric and cognitive symptoms. HD is caused by a CAG repeat expansion in the first exon of the HTT gene, resulting in an expanded pol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1a2d6b8909d8bbf64db0c6652f9991
http://hdl.handle.net/1887/107520

Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection

Autor: Willeke M. C. van Roon-Mom, Johan T. den Dunnen, Rolf H. A. M. Vossen, Menno H. Schut, Gert-Jan B. van Ommen, Barry A. Pepers

Publikováno v: BMC Biotechnology, Vol 9, Iss 1, p 50 (2009)
BMC Biotechnology

Background Methodologies like phage display selection, in vitro mutagenesis and the determination of allelic expression differences include steps where large numbers of clones need to be compared and characterised. In the current study we show that h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9c46c74b4119cb6cbc7d96f706d4c78
https://doi.org/10.1186/1472-6750-9-50

B07 Analysis of huntingtin protein fragments in post mortem human Huntington's disease brain tissue

Autor: Stefano Patassini, Jocelyn Y. Bullock, J.T. den Dunnen, Menno H. Schut, R Faull, Henry J. Waldvogel, Eric H. Kim, Gjb van Ommen, Wmc van Roon-Mom, Barry A. Pepers

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 83:A7.3-A8

Huntington9s disease (HD) is an autosomal dominant neurodegenerative disease caused by elongation of a CAG-repeat within the first exon of the huntingtin gene. This mutation leads to a toxic gain-of-function of the huntingtin protein (htt). The exact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a571d5d234580e4b13e1ecca354ba90f
https://doi.org/10.1136/jnnp-2012-303524.23