Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Paolo M Marchi"'
Autor:
Joseph M Scarrott, João Alves-Cruzeiro, Paolo M Marchi, Christopher P Webster, Zih-Liang Yang, Evangelia Karyka, Raffaele Marroccella, Ian Coldicott, Hannah Thomas, Mimoun Azzouz
Publikováno v:
Brain Communications
Mutations in any one of the four subunits (ɛ4, β4, μ4 and σ4) comprising the adaptor protein Complex 4 results in a complex form of hereditary spastic paraplegia, often termed adaptor protein Complex 4 deficiency syndrome. Deficits in adaptor pro
Autor:
Lara Marrone, Paolo M Marchi, Christopher P Webster, Raffaele Marroccella, Ian Coldicott, Steven Reynolds, João Alves-Cruzeiro, Zih-Liang Yang, Adrian Higginbottom, Mukhran Khundadze, Pamela J Shaw, Christian A Hübner, Matthew R Livesey, Mimoun Azzouz
Publikováno v:
Human Molecular Genetics
Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link between lysosomal aberrations and neuronal death is poorly explored.
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
https://doi.org/10.1101/2021.10.11.463891
Publikováno v:
Trends in Molecular Medicine. 28:79-80
Autor:
Evangelia Karyka, Nelly Berrueta Ramirez, Christopher P Webster, Paolo M Marchi, Emily J Graves, Vinay K Godena, Lara Marrone, Anushka Bhargava, Swagat Ray, Ke Ning, Hannah Crane, Guillaume M Hautbergue, Sherif F El-Khamisy, Mimoun Azzouz
Publikováno v:
Life science alliance. 5(8)
Spinal muscular atrophy, the leading genetic cause of infant mortality, is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. SMN is a multifunctional protein that is implicated in numerous cytoplasmic and nuclear pro
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⟩
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