Reduction in PA28αβ activation in HD mouse brain correlates to increased mHTT aggregation in cell models.

Autor: Karlijne W Geijtenbeek, Jolien Janzen, Aleksandra E Bury, Alicia Sanz-Sanz, Ron A Hoebe, Marie K Bondulich, Gillian P Bates, Eric A J Reits, Sabine Schipper-Krom

Publikováno v: PLoS ONE, Vol 17, Iss 12, p e0278130 (2022)

Huntington's disease is an autosomal dominant heritable disorder caused by an expanded CAG trinucleotide repeat at the N-terminus of the Huntingtin (HTT) gene. Lowering the levels of soluble mutant HTT protein prior to aggregation through increased d

Externí odkaz: https://doaj.org/article/ab2a3b5b3aba44b890ddb44b5ee0aee0

Dysfunction of the CNS-heart axis in mouse models of Huntington's disease.

Autor: Michal Mielcarek, Linda Inuabasi, Marie K Bondulich, Thomas Muller, Georgina F Osborne, Sophie A Franklin, Donna L Smith, Andreas Neueder, Jim Rosinski, Ivan Rattray, Andrea Protti, Gillian P Bates

Publikováno v: PLoS Genetics, Vol 10, Iss 8, p e1004550 (2014)

Cardiac remodelling and contractile dysfunction occur during both acute and chronic disease processes including the accumulation of insoluble aggregates of misfolded amyloid proteins that are typical features of Alzheimer's, Parkinson's and Huntingto

Externí odkaz: https://doaj.org/article/999732e06288452195737c7385566612

Alternative processing of human HTT mRNA with implications for Huntington’s disease therapeutics

Autor: Sandra Fienko, Christian Landles, Kirupa Sathasivam, Sean J McAteer, Rebecca E Milton, Georgina F Osborne, Edward J Smith, Samuel T Jones, Marie K Bondulich, Emily C E Danby, Jemima Phillips, Bridget A Taxy, Holly B Kordasiewicz, Gillian P Bates

Publikováno v: Brain. 145:4409-4424

Huntington disease is caused by a CAG repeat expansion in exon 1 of the huntingtin gene (HTT) that is translated into a polyglutamine stretch in the huntingtin protein (HTT). We previously showed that HTT mRNA carrying an expanded CAG repeat was inco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45e092a75a5ea5192081081d74bcd73
https://doi.org/10.1093/brain/awac241

Myostatin inhibition prevents skeletal muscle pathophysiology in Huntington’s disease mice

Autor: Se-Jin Lee, Ivan Rattray, Agnesska C. Benjamin, Kirupa Sathasivam, Nelly Jolinon, Linda Greensmith, Andreas Neueder, Angela Richard-Londt, Donna L. Smith, Edward J. Smith, Gillian P. Bates, Adam Lehar, Mhoriam Ahmed, Tobias C. Wood, David Howland, Sebastian Brandner, Matthew Ellis, Hayley Lazell, Ignacio Munoz-Sanjuan, Marie K. Bondulich, James R. T. Dick, Nadira Ali, Xiaoli Chang, Georgina F. Osborne, Daniel Goodwin, Sophie A. Franklin, Linda Inuabasi, Jim Rosinski, Sarah J. Tabrizi

Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Bondulich, M K, Jolinon, N, Osborne, G F, Smith, E J, Rattray, I, Neueder, A, Sathasivam, K, Ahmed, M, Ali, N, Benjamin, A C, Chang, X, DIck, J R T, Ellis, M, Franklin, S A, Goodwin, D, Inuabasi, L, Lazell, H, Lehar, A, Richard-Londt, A, Rosinski, J, Smith, D L, Wood, T, Tabrizi, S J, Brandner, S, Greensmith, L, Howland, D, Munoz-Sanjuan, I, Lee, S J & Bates, G P 2017, ' Myostatin inhibition prevents skeletal muscle pathophysiology in Huntington's disease mice ', Scientific Reports, vol. 7, no. 1, 14275 . https://doi.org/10.1038/s41598-017-14290-3
Scientific Reports

Huntington’s disease (HD) is an inherited neurodegenerative disorder of which skeletal muscle atrophy is a common feature, and multiple lines of evidence support a muscle-based pathophysiology in HD mouse models. Inhibition of myostatin signaling i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f6f43fdc74a5fe622d6be346fa22b1
https://doi.org/10.1038/s41598-017-14290-3

HDAC4-myogenin axis as an important marker of HD-related skeletal muscle atrophy

Autor: Gillian P. Bates, Mhoriam Ahmed, Sophie A. Franklin, Michal Mielcarek, Marta Toczek, Linda Greensmith, Marie K. Bondulich, Cleo J. L. M. Smeets, James R. T. Dick, Izabela Piotrowska, Nelly Jolinon, Thomas Muller, Ryszard T. Smolenski

Publikováno v: PLoS Genetics
PLoS Genetics, Vol 11, Iss 3, p e1005021 (2015)

Skeletal muscle remodelling and contractile dysfunction occur through both acute and chronic disease processes. These include the accumulation of insoluble aggregates of misfolded amyloid proteins that is a pathological feature of Huntington’s dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f7f0db352031734ad4a2435330ee90
https://pubmed.ncbi.nlm.nih.gov/25748626