Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency

Autor: Magda L. Atilano, Alexander J. Hull, Kerri J. Kinghorn

Publikováno v: Autophagy Reports, Vol 3, Iss 1 (2024)

Mutations in the GBA1 (glucosylceramidase beta 1) gene cause the most common lysosomal storage disorder, Gaucher disease (GD), characterized by the lysosomal accumulation of glucosylceramide and lysosomal dysfunction. Downstream of defects in lysosom

Externí odkaz: https://doaj.org/article/f46664a91cfc481a9e24b29497b3b13b

Lithium Promotes Longevity through GSK3/NRF2-Dependent Hormesis

Autor: Jorge Iván Castillo-Quan, Li Li, Kerri J. Kinghorn, Dobril K. Ivanov, Luke S. Tain, Cathy Slack, Fiona Kerr, Tobias Nespital, Janet Thornton, John Hardy, Ivana Bjedov, Linda Partridge

Publikováno v: Cell Reports, Vol 15, Iss 3, Pp 638-650 (2016)

The quest to extend healthspan via pharmacological means is becoming increasingly urgent, both from a health and economic perspective. Here we show that lithium, a drug approved for human use, promotes longevity and healthspan. We demonstrate that li

Externí odkaz: https://doaj.org/article/ebe05bc7d909406f8b69e27cd265d60a

Shifting equilibriums in Alzheimer’s disease: the complex roles of microglia in neuroinflammation, neuronal survival and neurogenesis

Autor: Sophie C Gray, Kerri J Kinghorn, Nathaniel S Woodling

Publikováno v: Neural Regeneration Research, Vol 15, Iss 7, Pp 1208-1219 (2020)

Alzheimer’s disease is the leading cause of dementia. Its increased prevalence in developed countries, due to the sharp rise in ageing populations, presents one of the costliest challenges to modern medicine. In order to find disease-modifying ther

Externí odkaz: https://doaj.org/article/29a8714d351b46d19d1b746c15930ec8

Gba1 deletion causes immune hyperactivation and microbial dysbiosis through autophagic defects

Autor: Magda Luciana Atilano, Alexander Hull, Catalina-Andreea Romila, Mirjam L Adams, Jacob Wildfire, Enric Ureña, Miranda Dyson, Jorge Ivan-Castillo-Quan, Linda Partridge, Kerri J. Kinghorn

Mutations in theGBA1gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest genetic risk factor for Parkinson’s disease (PD). Communication between gut and brain and immune dysregulation are increasingly being implicated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::84a14fd5dce22d7a72efd4a5b97e4fb9
https://doi.org/10.1101/2022.12.15.520449

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Autor: Leonardo Collado-Torres, Oluwadamilola Ojo, Huw Morris, Andy Thomason, Isabel Gonzalez-Aramburu, Mie Rizig, Sara Bandrés Ciga, Patrick Lewis, María Teresa Periñán, Pau Pastor, Nicholas Wood, Kerrin Small, John Quinn, PAOLA FORABOSCO, Rubén Fernández-Santiago, Astrid Daniela Adarmes Gómez, Juan Carlos Martinez Castrillo, Sonja Scholz, Victoria Alvarez, Niccolò Emanuele Mencacci, Michael Weale, Thomas Gasser, Kari Majamaa, Adolfo Mínguez-Castellanos, Jose Bras, J. Raphael Gibbs, Monica Diez-Fairen, Ruth Lovering, Jon Infante, Juan A. Botía, Rita Guerreiro, John Hardy, Mario Ezquerra, Valentina Escott-Price, Arianna Tucci, Kin Ying Mok, Kerri J Kinghorn, Manuel Menéndez González, Janet Hoenicka, Njideka Okubadejo, Regina Reynolds, Alexis Brice, Ignacio Alvarez, Adaikalavan Ramasamy, Pille Taba, David Zhang, Lydia Vela-Desojo

Publikováno v: Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications

International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC).
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983ce5373a8661d389b6fcfe05e9de4f
https://doi.org/10.1038/s41467-020-14483-x