Publications

Publications of specific relevance to Predictive in vitro Models
2023

Harley P, Paredes-Redondo A, Grenci G, Viasnoff V,
Lin Y-Y and Lieberam I (2023).
3D Compartmentalised Human Pluripotent Stem Cell–derived Neuromuscular Co-cultures. Bio-Protocol vol. 13, (5) e4624-e4624.
10.21769/bioprotoc.46242022

Morera C, Kim J, Paredes-Redondo A, Nobles M, Rybin D, Moccia R, Kowala A, Meng J, Garren S, Liu P, Morgan JE, Muntoni F, Christoforou N, Owens J,
Tinker A and
Lin Y-Y (2022).
CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model. Neuromuscular Disorders 10.1016/j.nmd.2022.10.007
Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L, Gupta VA, Main M, Ferrari G, Kowala A,
Lin YY, Tedesco FS, Scoto M, Baranello G, Manzur A, Aoki Y and Muntoni F (2022).
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle vol. 13, (2) 1360-1372.
10.1002/jcsm.129142021

Marino S (2021).
Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC‐derived neural stem cells in glioblastoma. Nature Research (Part of Springer Nature) Nature Communications 10.1038/s41467-021-26297-6
Paredes-Redondo A, Harley P, Maniati E, Ryan D, Louzada S, Meng J, Kowala A, Fu B, Yang F, Liu P, Marino S, Pourquié O, Muntoni F, Wang J, Lieberam I and
Lin YY (2021).
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections. Science Advances vol. 7, (37)
10.1126/sciadv.abi87872019

Kim J, Lana B, Torelli S, Ryan D, Catapano F, Ala P, Luft C, Stevens E, Konstantinidis E, Louzada S, Fu B, Paredes-Redondo A, Chan AWE, Yang F, Stemple DL, Liu P, Ketteler R, Selwood DL, Muntoni F and
Lin YY (2019).
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. Embo Reports vol. 20, (11)
10.15252/embr.201947967
Paredes‐Redondo A and
Lin Y (2019).
Human Induced Pluripotent Stem Cells: Challenges and Opportunities in Developing New Therapies for Muscular Dystrophies. Els Wiley 10.1002/9780470015902.a00283712016

Bevan N, Bevan L, Brown S, van Bokhoven H, Campbell KP, Cirak S, Cisneros B, Colognato H, Hohenester E, Lefeber D, Liljedahl M, Lu Q, Seta N, Shcherbata H, Straub V, Winder S and
LIN Y (2016).
220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016. 10.1016/j.nmd.2016.12.010
Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D,
Lin Y-Y, Lee H, Stalnaker SH, Wang S, Prabhakar PK, Nelson SF, Stemple DL, Moore SA, Moremen KW, Campbell KP and Wells L (2016).
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. Elife vol. 5,
10.7554/eLife.144732013

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL and Hurles ME (2013).
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet vol. 93, (1) 29-41.
10.1016/j.ajhg.2013.05.009
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, Van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL and Hurles ME (2013).
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics vol. 93, (1) 29-41.
10.1016/j.ajhg.2013.05.009
Stevens E, Carss KJ, Cirak S, Foley R, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, Stemple D,
Lin Y-Y and Muntoni F (2013).
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan. American Journal of Human Genetics vol. 92, (3) 354-365.
10.1016/j.ajhg.2013.01.016
Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg E-J, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL,
Lin Y-Y, Lefeber DJ and van Bokhoven H (2013).
Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome. Human Molecular Genetics vol. 22, (9) 1746-1754.
10.1093/hmg/ddt0212012

Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, Van Reeuwijk J, Van Den Elzen C, Van Beusekom E, Riemersma M, Pfundt R, Vissers LELM, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GMS, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EAJ, Tan-Sindhunata GMB, De Die-Smulders CE, Devriendt K and Kayserili H (2012).
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics vol. 44, (5) 581-585.
10.1038/ng.22532011
Lin Y-Y, White RJ, Torelli S, Cirak S, Muntoni F and Stemple DL (2011).
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet vol. 20, (9) 1763-1775.
10.1093/hmg/ddr0592009
Lin Y-Y and Gubb D (2009).
Molecular dissection of Drosophila Prickle isoforms distinguishes their essential and overlapping roles in planar cell polarity. Dev Biol vol. 325, (2) 386-399.
10.1016/j.ydbio.2008.10.042