The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

por Rebecca Jeyaraj, Kirsten McKay Bounford, Nicola Ruth, Carla Lloyd, Fiona MacDonald, Christian J. Hendriksz, Ulrich Baumann, Paul Gissen, Deirdre Kelly
Publicado 2021

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

por Luigi Scietti, Antonella Chiapparino, Francesca De Giorgi, Marco Fumagalli, Lela Khoriauli, Solomon Nergadze, Shibom Basu, Vincent Olieric, Lucia Cucca, Blerida Banushi, Antonella Profumo, Elena Giulotto, Paul Gissen, Federico Forneris
Publicado 2018

Author Correction: Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

por Luigi Scietti, Antonella Chiapparino, Francesca De Giorgi, Marco Fumagalli, Lela Khoriauli, Solomon Nergadze, Shibom Basu, Vincent Olieric, Lucia Cucca, Blerida Banushi, Antonella Profumo, Elena Giulotto, Paul Gissen, Federico Forneris
Publicado 2018

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

por Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington
Publicado 2018

α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson’s disease

por Marthe H. R. Ludtmann, Plamena R. Angelova, Mathew H. Horrocks, Minee L. Choi, Margarida Rodrigues, Artyom Y. Baev, Alexey V. Berezhnov, Zhi Yao, Daniel Little, Blerida Banushi, Afnan Saleh Al-Menhali, Rohan T. Ranasinghe, Daniel R. Whiten, Ratsuda Yapom, Karamjit Singh Dolt, Michael J. Devine, Paul Gissen, Tilo Kunath, Morana Jaganjac, Evgeny V. Pavlov, David Klenerman, Andrey Y. Abramov, Sonia Gandhi
Publicado 2018

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

por Blerida Banushi, Federico Forneris, Anna Straatman-Iwanowska, Adam Strange, Anne-Marie Lyne, Clare Rogerson, Jemima J. Burden, Wendy E. Heywood, Joanna Hanley, Ivan Doykov, Kornelis R. Straatman, Holly Smith, Danai Bem, Janos Kriston-Vizi, Gema Ariceta, Maija Risteli, Chunguang Wang, Rosalyn E. Ardill, Marcin Zaniew, Julita Latka-Grot, Simon N. Waddington, S. J. Howe, Francesco Ferraro, Asllan Gjinovci, Scott Lawrence, Mark Marsh, Mark Girolami, Laurent Bozec, Kevin Mills, Paul Gissen
Publicado 2016

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

por Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Publicado 2016