Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Helene Plun-Favreau"'
Autor:
Capucine de Talhouët, Noemi Esteras, Marc P. M. Soutar, Benjamin O’Callaghan, Helene Plun-Favreau
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract It has recently been shown that KAT8, a genome-wide association study candidate risk gene for Parkinson’s Disease, is involved in PINK1/Parkin-dependant mitophagy. The KAT8 gene encodes a lysine acetyltransferase and represents the catalyt
Externí odkaz:
https://doaj.org/article/cd12b487421943daa9612241182f2776
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-4 (2021)
Externí odkaz:
https://doaj.org/article/6b81f316fb6f4d03a7ee9a6b072bb30e
Whilst the majority of PD cases are sporadic, much of our understanding of the pathophysiological basis of disease can be traced back to the study of rare, monogenic forms of disease. In the past decade, the availability of Genome-Wide Association St
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21b454d61d3e687571cd19fbc92b4dc9
https://doi.org/10.1101/2023.01.27.524249
https://doi.org/10.1101/2023.01.27.524249
Autor:
James M. McCarthy, Selina Wray, Siddharth Sethi, Gregory A. O'Sullivan, Helene Plun-Favreau, Anna Poon, Lee A. Dawson, Harpreet K Saini
Publikováno v:
Stem Cell Reports
Summary Sequestosome-1 (SQSTM1/p62) is involved in cellular processes such as autophagy and metabolic reprogramming. Mutations resulting in the loss of function of SQSTM1 lead to neurodegenerative diseases including frontotemporal dementia. The patho
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-4 (2021)
Molecular Neurodegeneration
Molecular Neurodegeneration
Publikováno v:
Movement Disorders
MOVEMENT DISORDERS
MOVEMENT DISORDERS
Autor:
Christin Luft, Marc P.M. Soutar, Robin Ketteler, Marthe H.R. Ludtmann, Emily Annuario, Helene Plun-Favreau, Liam Kempthorne, Selina Wray
Publikováno v:
Autophagy
Mitochondrial quality control is essential for maintaining a healthy population of mitochondria. Two proteins associated with Parkinson disease, the kinase PINK1 and the E3 ubiquitin ligase PRKN, play a central role in the selective degradation of he
Autor:
Helene Plun-Favreau, Daniela Melandri, Charles Arber, Jonathan D. Rohrer, Christopher J. Holler, Thomas Kukar, Marc P.M. Soutar, Adrian M. Isaacs, Selina Wray, Jackie M. Casey
Publikováno v:
Alzheimer's & Dementia. 16
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 35(10)
Autor:
Regina H. Reynolds, Kerri J. Kinghorn, Lea R'Bibo, Alastair J. Noyce, Henry Houlden, Elena Zholdybayeva, Niccolo E. Mencacci, Patrick A. Lewis, Claudia Manzoni, Nazira Zharkinbekova, Daniah Trabzuni, Nicholas W. Wood, Sebastian Guelfi, John Hardy, Valentina Escott-Price, Rita Guerreiro, Ruth C. Lovering, Chris-Ann Mackenzie, Juan A. Botía, Álvaro Sánchez-Ferrer, John P. Quinn, Viola Volpato, Rauan Kaiyrzhanov, Peter Holmans, Caleb Webber, Huw R. Morris, Sonia Garcia Ruiz, Kirsten Harvey, Nigel Williams, Thomas Foltynie, Colin Smith, Viorica Chelban, Ben Middlehurst, Kin Y. Mok, Karishma D’Sa, Adaikalavan Ramasamy, Chingiz Shashakin, Kailash P. Bhatia, Helene Plun-Favreau, Jana Vandrovcova, Mina Ryten, Manuela Tan, Mie Rizig, Kimberley Billingsley, Demis A. Kia, Akbota Aitkulova, Paola Forabosco, Jose Bras, Michael E. Weale
Publikováno v:
Brain
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety,