Manya H et al. The muscular dystrophy gene TMEM5 encodes a ribitol β1,4-xylosyltransferase required for the functional glycosylation of dystroglycan. J Biol Chem. 2016;291(47):24618–24627. PMID: 27789749.
Jae LT et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science. 2013;340(6131):479–483. PMID: 23519211.
Vuillaumier-Barrot S et al. Mutations in TMEM5 cause dystroglycanopathy with brain and eye anomalies. Am J Hum Genet. 2015;96(5):836–843. PMID: 25937471.
Endo T. Glycobiology of -dystroglycan and muscular dystrophy.J Biochem. 2015;157(1):1–12. PMID: 25398867.
Manya H, Endo T. Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan. Biochim Biophys Acta Gen Subj. 2017;1861(10):2462-2472. PMID: 28711406.
Aref F et al. Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus. Radiol Case Rep. 2024;19(11):5063-5065. PMID: 39253050.
Ganassi M, Zammit PS. Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies. Eur J Transl Myol. 2022;32(1):10064. PMID: 35302338.
Zaum AK et al. A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.Neuromuscul Disord. 2018;28(8):671-674. PMID: 30017359.
