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Research

Publications: Dr Yung-Yao Lin

Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L et al. ( 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 .
Morera C, Kim J, Paredes-Redondo A, Nobles M, Rybin D, Moccia R, Kowala A, Meng J et al. ( 2022 ) . CRISPR-mediated correction of skeletal muscle Ca<sup>2+</sup> handling in a novel DMD patient-derived pluripotent stem cell model .
Marino S ( 2021 ) . Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC‐derived neural stem cells in glioblastoma . Nature Communications
Paredes-Redondo A, Harley P, Maniati E, Ryan D, Louzada S, Meng J, Kowala A, Fu B et al. ( 2021 ) . Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections . Science Advances vol. 7 , ( 37 )
Kim J, Lana B, Torelli S, Ryan D, Catapano F, Ala P, Luft C, Stevens E et al. ( 2019 ) . A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan . EMBO Reports vol. 20 , ( 11 )
Paredes‐Redondo A, Lin Y ( 2019 ) . Human Induced Pluripotent Stem Cells: Challenges and Opportunities in Developing New Therapies for Muscular Dystrophies . eLS ,
Brown S, Winder SJ, Bevan N, Bevan L, van Bokhoven H, Campbell K, Cirak S, Cisneros B et al. ( 2017 ) . 220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016 .
Kim J, Lana B, Ryan D, Konstantinidis E, Louzada S, Fu B, Yang F, Stemple DL et al. ( 2017 ) . D24 CRISPR-mediated genome editing in human induced pluripotent stem cells for modelling FKRP-deficient dystroglycanopathies . Neuromuscular Disorders vol. 27 , s12 - s12 .
Paredes-Redondo A, Lin Y-Y ( 2017 ) . Developing novel human isogenic cellular models for Duchenne muscular dystrophy . NEUROMUSCULAR DISORDERS . vol. 27 , S6 - S6 .
Lana B, Kim J, Ryan D, Konstantinidis E, Louzada S, Fu B, Yang F, Stemple D et al. ( 2017 ) . Targeted gene correction of <i>FKRP</i> by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cells .
Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin Y-Y, Lee H, Stalnaker SH et al. ( 2016 ) . The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition . eLife vol. 5 ,
Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin Y-Y, Lee H, Stalnaker S et al. ( 2016 ) . Functional O-Mannosylation of alpha-Dystroglycan: Trisaccharide-phospho-ribitol Primed for Matriglycan Addition . FASEB JOURNAL . Conference: Experimental Biology Meeting vol. 30 ,
Paredes-Redondo A, Lin Y-Y ( 2016 ) . Developing novel human isogenic cellular models for Duchenne muscular dystrophy . NEUROMUSCULAR DISORDERS . vol. 26 , S15 - S15 .
Lana B, Ryan D, Konstantinidis E, Muntoni F, Lin Y-Y ( 2016 ) . Isogenic human induced pluripotent stem cell based models for studying FKRP-deficient muscular dystrophy . NEUROMUSCULAR DISORDERS . vol. 26 , S13 - S13 .
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T et al. ( 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 .
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T et al. ( 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 .
Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg E-J, van den Elzen C et al. ( 2013 ) . Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome . HUMAN MOLECULAR GENETICS vol. 22 , ( 9 ) 1746 - 1754 .
Stevens E, Carss KJ, Cirak S, Foley R, Torelli S, Willer T, Tambunan DE, Yau S et al. ( 2013 ) . Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycan . AMERICAN JOURNAL OF HUMAN GENETICS vol. 92 , ( 3 ) 354 - 365 .
Stevens E, Carss K, Cirak S, Torelli S, Foley AR, Sewry C, Topaloglu H, Haliloglu G et al. ( 2012 ) . G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies . Neuromuscular Disorders vol. 22 , ( 9-10 )
Lin Y-Y ( 2012 ) . Muscle diseases in the zebrafish . Neuromuscul Disord vol. 22 , ( 8 ) 673 - 684 .
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, Van Reeuwijk J, Van Den Elzen C, Van Beusekom E, Riemersma M et al. ( 2012 ) . Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan . Nature Genetics vol. 44 , ( 5 ) 581 - 585 .
Lin Y-Y, White RJ, Torelli S, Cirak S, Muntoni F, Stemple DL ( 2011 ) . Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies . Hum Mol Genet vol. 20 , ( 9 ) 1763 - 1775 .
Lin Y-Y, 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 .