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Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.

Rubio-Fernández M, Uribe ML, Vicente-Tejedor J, Germain F, Susín-Lara C, Quereda C, Montoliu L, de la Villa P, Martín-Nieto J, Cruces J.

Sci Rep. 2018 Jun 4;8(1):8543. doi: 10.1038/s41598-018-26855-x.


TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA.

Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.


Distinct expression of functionally glycosylated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice.

Blaeser A, Awano H, Lu P, Lu QL.

PLoS One. 2018 Jan 10;13(1):e0191016. doi: 10.1371/journal.pone.0191016. eCollection 2018.


Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.

Kanagawa M, Toda T.

J Neuromuscul Dis. 2017;4(4):259-267. doi: 10.3233/JND-170255.


Genetic and Clinical Advances of Congenital Muscular Dystrophy.

Fu XN, Xiong H.

Chin Med J (Engl). 2017 Nov 5;130(21):2624-2631. doi: 10.4103/0366-6999.217091. Review.


Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.

Larsen ISB, Narimatsu Y, Joshi HJ, Yang Z, Harrison OJ, Brasch J, Shapiro L, Honig B, Vakhrushev SY, Clausen H, Halim A.

J Biol Chem. 2017 Jul 7;292(27):11586-11598. doi: 10.1074/jbc.M117.794487. Epub 2017 May 16.


Learning disabilities in neuromuscular disorders: a springboard for adult life.

Astrea G, Battini R, Lenzi S, Frosini S, Bonetti S, Moretti E, Perazza S, Santorelli FM, Pecini C.

Acta Myol. 2016 Oct;35(2):90-95. Review.


Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H.

J Cell Mol Med. 2017 Jul;21(7):1388-1393. doi: 10.1111/jcmm.13068. Epub 2017 Feb 3.


Protein O-Mannosylation in the Murine Brain: Occurrence of Mono-O-Mannosyl Glycans and Identification of New Substrates.

Bartels MF, Winterhalter PR, Yu J, Liu Y, Lommel M, Möhrlen F, Hu H, Feizi T, Westerlind U, Ruppert T, Strahl S.

PLoS One. 2016 Nov 3;11(11):e0166119. doi: 10.1371/journal.pone.0166119. eCollection 2016.


The role of pericytic laminin in blood brain barrier integrity maintenance.

Gautam J, Zhang X, Yao Y.

Sci Rep. 2016 Nov 3;6:36450. doi: 10.1038/srep36450.


Congenital muscular dystrophy: from muscle to brain.

Falsaperla R, Praticò AD, Ruggieri M, Parano E, Rizzo R, Corsello G, Vitaliti G, Pavone P.

Ital J Pediatr. 2016 Aug 31;42(1):78. doi: 10.1186/s13052-016-0289-9. Review.


LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans.

Inamori KI, Beedle AM, de Bernabé DB, Wright ME, Campbell KP.

Glycobiology. 2016 Dec;26(12):1284-1296. Epub 2016 Jul 22.


Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

Hildyard JC, Lacey E, Booler H, Hopkinson M, Wells DJ, Brown SC.

PLoS One. 2016 Jul 28;11(7):e0159853. doi: 10.1371/journal.pone.0159853. eCollection 2016.


Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.

Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J.

Mol Vis. 2016 Jun 16;22:658-73. eCollection 2016.


Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.

Bausewein D, Engel J, Jank T, Schoedl M, Strahl S.

J Biol Chem. 2016 Aug 19;291(34):18006-15. doi: 10.1074/jbc.M116.739128. Epub 2016 Jun 29.


ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT.

Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.


The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.

Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin YY, Lee H, Stalnaker SH, Wang S, Prabhakar PK, Nelson SF, Stemple DL, Moore SA, Moremen KW, Campbell KP, Wells L.

Elife. 2016 Apr 29;5. pii: e14473. doi: 10.7554/eLife.14473.


Cerebral cortex expansion and folding: what have we learned?

Fernández V, Llinares-Benadero C, Borrell V.

EMBO J. 2016 May 17;35(10):1021-44. doi: 10.15252/embj.201593701. Epub 2016 Apr 7. Review.


212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.

Saunier M, Bönnemann CG, Durbeej M, Allamand V; CMD Animal Model Consortium.

Neuromuscul Disord. 2016 Mar;26(3):252-9. doi: 10.1016/j.nmd.2016.02.002. Epub 2016 Feb 15. No abstract available.

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