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Publications

Our scientific output and findings

From groundbreaking discoveries in basic science to innovative clinical insights, our publications showcase the breadth and depth of research taking place at the UK DRI. 

EMBO J
Published

HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.

Authors
Julie Qiaojin Lin, Deepak Khuperkar, Sofia Pavlou, Stanislaw Makarchuk, Nikolaos Patikas, Flora Cy Lee, Julia M Zbiegly, Jianning Kang, Sarah F Field, David Md Bailey, Joshua L Freeman, Jernej Ule, Emmanouil Metzakopian, Marc-David Ruepp, Giovanna R Mallucci
HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.
bioRxiv
Published

Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.

Authors
Taylor Bertucci, Kathryn R Bowles, Steven Lotz, Le Qi, Katherine Stevens, Susan K Goderie, Susan Borden, Laura Maria Oja, Keith Lane, Ryan Lotz, Hailey Lotz, Rebecca Chowdhury, Shona Joy, Brigitte L Arduini, David C Butler, Michael Miller, Heide Baron, Carl Alexander Sandhof, M Catarina Silva, Stephen J Haggarty, Celeste M Karch, Daniel H Geschwind, Alison M Goate, Sally Temple
Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.
Brain
Published

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Authors
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K Gustavsson, Kristina Ibañez, Regina H Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, , Nick Wood, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
JAMA Neurol
Published

Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.

Authors
Joanna M Wardlaw, Lisa J Woodhouse, Iris I Mhlanga, Katherine Oatey, Anna K Heye, John Bamford, Vera Cvoro, Fergus N Doubal, Timothy England, Ahamad Hassan, Alan Montgomery, John T O'Brien, Christine Roffe, Nikola Sprigg, David J Werring, Philip M Bath,
Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.
Nat Commun
Published

Astrocyte-oligodendrocyte interaction regulates central nervous system regeneration.

Authors
Irene Molina-Gonzalez, Rebecca K Holloway, Zoeb Jiwaji, Owen Dando, Sarah A Kent, Katie Emelianova, Amy F Lloyd, Lindsey H Forbes, Ayisha Mahmood, Thomas Skripuletz, Viktoria Gudi, James A Febery, Jeffrey A Johnson, Jill H Fowler, Tanja Kuhlmann, Anna Williams, Siddharthan Chandran, Martin Stangel, Andrew J M Howden, Giles E Hardingham, Veronique E Miron
Astrocyte-oligodendrocyte interaction regulates central nervous system regeneration.
JCI Insight
Published

Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice.

Authors
James N Sleigh, David Villarroel-Campos, Sunaina Surana, Tahmina Wickenden, Yao Tong, Rebecca L Simkin, Jose Norberto S Vargas, Elena R Rhymes, Andrew P Tosolini, Steven J West, Qian Zhang, Xiang-Lei Yang, Giampietro Schiavo
Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice.