Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Rickie Patani"'
Autor:
Pierre Klein, Marija Petrić Howe, Jasmine Harley, Harry Crook, Sofia Esteban Serna, Theodoros I. Roumeliotis, Jyoti S. Choudhary, Anob M. Chakrabarti, Raphaëlle Luisier, Rickie Patani, Andres Ramos
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Neuronal differentiation requires building a complex intracellular architecture, and therefore the coordinated regulation of defined sets of genes. RNA-binding proteins (RBPs) play a key role in this regulation. However, while their action o
Externí odkaz:
https://doaj.org/article/d4e3d04ccb5744638285e3e9691dd642
Publikováno v:
Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/01bc0c7ee3de442b80e13a668d9015d4
Autor:
Federica Raguseo, Yiran Wang, Jessica Li, Marija Petrić Howe, Rubika Balendra, Anouk Huyghebaert, Devkee M. Vadukul, Diana A. Tanase, Thomas E. Maher, Layla Malouf, Roger Rubio-Sánchez, Francesco A. Aprile, Yuval Elani, Rickie Patani, Lorenzo Di Michele, Marco Di Antonio
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases that exist on a clinico-pathogenetic spectrum, designated ALS/FTD. The most common genetic cause of ALS/FTD is expansion of the intronic hex
Externí odkaz:
https://doaj.org/article/7acb7c2915fa45d693187ddf1818d97f
Autor:
Oliver J. Ziff, Jacob Neeves, Jamie Mitchell, Giulia Tyzack, Carlos Martinez-Ruiz, Raphaelle Luisier, Anob M. Chakrabarti, Nicholas McGranahan, Kevin Litchfield, Simon J. Boulton, Ammar Al-Chalabi, Gavin Kelly, Jack Humphrey, Rickie Patani
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97% of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been hampered by disease heterogeneity and difficulties accessing motor neurons. Human i
Externí odkaz:
https://doaj.org/article/dd8f26a91a1646ca8fb84eb2c02762b3
Autor:
Gurvir S. Virdi, Minee L. Choi, James R. Evans, Zhi Yao, Dilan Athauda, Stephanie Strohbuecker, Raja S. Nirujogi, Anna I. Wernick, Noelia Pelegrina-Hidalgo, Craig Leighton, Rebecca S. Saleeb, Olga Kopach, Haya Alrashidi, Daniela Melandri, Jimena Perez-Lloret, Plamena R. Angelova, Sergiy Sylantyev, Simon Eaton, Simon Heales, Dmitri A. Rusakov, Dario R. Alessi, Tilo Kunath, Mathew H. Horrocks, Andrey Y. Abramov, Rickie Patani, Sonia Gandhi
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-22 (2022)
Abstract Mutations in the SNCA gene cause autosomal dominant Parkinson’s disease (PD), with loss of dopaminergic neurons in the substantia nigra, and aggregation of α-synuclein. The sequence of molecular events that proceed from an SNCA mutation d
Externí odkaz:
https://doaj.org/article/fc1ba7fa6d614cbe962ce2b5a05c4fa6
Autor:
Aftab Alam, Eric P. Thelin, Tamara Tajsic, Danyal Z. Khan, Abdelhakim Khellaf, Rickie Patani, Adel Helmy
Publikováno v:
Journal of Neuroinflammation, Vol 17, Iss 1, Pp 1-17 (2020)
Abstract Traumatic brain injury leads to cellular damage which in turn results in the rapid release of damage-associated molecular patterns (DAMPs) that prompt resident cells to release cytokines and chemokines. These in turn rapidly recruit neutroph
Externí odkaz:
https://doaj.org/article/a604489a332944f9ba9a96f204f600b8
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
On the verge of the ongoing coronavirus pandemic, in vitro data suggested that chloroquine, and its analog hydroxychloroquine, may be useful in controlling SARS-CoV-2 infection. Efforts are ongoing in order to test this hypothesis in clinical trials.
Externí odkaz:
https://doaj.org/article/0079ffe0255144adb6fec7d63a6b5349
Autor:
Raphaelle Luisier, Giulia E. Tyzack, Claire E. Hall, Jamie S. Mitchell, Helen Devine, Doaa M. Taha, Bilal Malik, Ione Meyer, Linda Greensmith, Jia Newcombe, Jernej Ule, Nicholas M. Luscombe, Rickie Patani
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Intron retention (IR) can increase protein diversity and function, and yet unregulated IR may be detrimental to cellular health. This study shows that aberrant IR occurs in ALS and finds nuclear loss of an RNA-binding protein called SFPQ as a new mol
Externí odkaz:
https://doaj.org/article/9c63023a8964420da0433bba1c3207ac
Autor:
Sara Martina Maffioletti, Shilpita Sarcar, Alexander B.H. Henderson, Ingra Mannhardt, Luca Pinton, Louise Anne Moyle, Heather Steele-Stallard, Ornella Cappellari, Kim E. Wells, Giulia Ferrari, Jamie S. Mitchell, Giulia E. Tyzack, Vassilios N. Kotiadis, Moustafa Khedr, Martina Ragazzi, Weixin Wang, Michael R. Duchen, Rickie Patani, Peter S. Zammit, Dominic J. Wells, Thomas Eschenhagen, Francesco Saverio Tedesco
Publikováno v:
Cell Reports, Vol 23, Iss 3, Pp 899-908 (2018)
Summary: Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including i
Externí odkaz:
https://doaj.org/article/8b22248a00a9498bb213b38f5d00c2e3
Autor:
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 22-31 (2017)
Abstract Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively. Repea
Externí odkaz:
https://doaj.org/article/1f8b61ee6cea4757929c90eeb5c2d015