Loss of Deacetylation Enzymes Hdac6 and Sirt2 Promotes Acetylation of Cytoplasmic Tubulin, but Suppresses Axonemal Acetylation in Zebrafish Cilia

Autor: Paweł K. Łysyganicz, Niedharsan Pooranachandran, Xinming Liu, Kathryn I. Adamson, Katarzyna Zielonka, Stone Elworthy, Fredericus J. van Eeden, Andrew J. Grierson, Jarema J. Malicki

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Cilia are evolutionarily highly conserved organelles with important functions in many organs. The extracellular component of the cilium protruding from the plasma membrane comprises an axoneme composed of microtubule doublets, arranged in a 9 + 0 con

Externí odkaz: https://doaj.org/article/21b982de488b4869aecf37b8f7e0e109

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

Autor: Claudia S. Bauer, Rebecca N. Cohen, Francesca Sironi, Matthew R. Livesey, Thomas H. Gillingwater, J. Robin Highley, Daniel J. Fillingham, Ian Coldicott, Emma F. Smith, Yolanda B. Gibson, Christopher P. Webster, Andrew J. Grierson, Caterina Bendotti, Kurt J. De Vos

Publikováno v: Bauer, C S, Cohen, R N, Sironi, F, Livesey, M R, Gillingwater, T H, Highley, J R, Fillingham, D J, Coldicott, I, Smith, E F, Gibson, Y B, Webster, C P, Grierson, A J, Bendotti, C & De Vos, K J 2022, ' An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD ', Acta Neuropathologica, vol. 144, pp. 437–464 .

Dysfunction and degeneration of synapses is a common feature of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene is the main genetic cause of ALS/FTD (C9ALS/FTD). The re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62b958cdd3f8be1dbf86bcad7b19440
https://doi.org/10.1007/s00401-022-02470-z

HDAC6 inhibition partially alleviates mitochondrial trafficking defects and restores motor function in human motor neuron and zebrafish models of Charcot-Marie-Tooth Disease Type 2A

Autor: Larissa Butler, Kathryn I. Adamson, Stuart L. Johnson, Lydia H. Jestice, Christopher J. Price, Dylan Stavish, Niedharsan Pooranachandran, Jarema J. Malicki, Anestis Tsakiridis, Andrew J. Grierson, Ivana Barbaric

Charcot Marie Tooth Disease (CMT) is a group of inherited progressive conditions affecting distal motor and sensory neurons, leading to muscle weakness, pain and loss of sensation in limbs. There are currently no treatments for this debilitating dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::147b706e897137d824f66e7cd774f94a
https://doi.org/10.1101/2022.07.05.498819

C9orf72-derived poly-GA DPRs undergo endocytic uptake in iNPC-derived astrocytes and spread to motor neurons

Autor: Kurt J. De Vos, Marco Destro, Andrew J. Grierson, Raffaele Marroccella, Emma F. Smith, Victor Alfred, Darren Robinson, Guillaume M. Hautbergue, Luc Bousset, Laurent Brasseur, Allan C. Shaw, Ronald Melki, Stephen J. Ebbens, Christopher P. Webster, Laura Ferraiuolo, Christa G. Walther, Mimoun Azzouz, Lai Mei Wan, Paolo M. Marchi, Lara Marrone

Dipeptide repeat proteins (DPRs) are aggregation-prone polypeptides encoded by the pathogenic G4C2 repeat expansion in the C9orf72 gene, the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). In this stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a6426a970417041b495e4e719d1d7e1f
https://doi.org/10.1101/2021.10.11.463891

C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons

Autor: Paolo M Marchi, Lara Marrone, Laurent Brasseur, Audrey Coens, Christopher P Webster, Luc Bousset, Marco Destro, Emma F Smith, Christa G Walther, Victor Alfred, Raffaele Marroccella, Emily J Graves, Darren Robinson, Allan C Shaw, Lai Mei Wan, Andrew J Grierson, Stephen J Ebbens, Kurt J De Vos, Guillaume M Hautbergue, Laura Ferraiuolo, Ronald Melki, Mimoun Azzouz

Publikováno v: Life Science Alliance
Life Science Alliance, 2022, 5 (9), pp.e202101276. ⟨10.26508/lsa.202101276⟩

Dipeptide repeat (DPR) proteins are aggregation-prone polypeptides encoded by the pathogenic GGGGCC repeat expansion in the C9ORF72 gene, the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. In this study, we fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08821ad1db7017cafd7574b9a4fb502
https://doi.org/10.26508/lsa.202101276