Aldridge GM, Podrebarac DM, Greenough WT, Weiler IJ (2008) The use of total protein stains as loading controls: an alternative to high-abundance single-protein controls in semi-quantitative immunoblotting. J Neurosci Methods 172:250–254. https://doi.org/10.1016/j.jneumeth.2008.05.003

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alfano LN, Charleston JS, Connolly AM, Cripe L, Donoghue C, Dracker R, Dworzak J, Eliopoulos H, Frank DE, Lewis S, Lucas K, Lynch J, Milici AJ, Flynt A, Naughton E, Rodino-Klapac LR, Sahenk Z, Schnell FJ, Young GD, Mendell JR, Lowes LP (2019) Long-term treatment with eteplirsen in nonambulatory patients with duchenne muscular dystrophy. Medicine (baltimore) 98:e15858. https://doi.org/10.1097/MD.0000000000015858

Article  PubMed  Google Scholar 

Alhamidi M, Brox V, Stensland E, Liset M, Lindal S, Nilssen O (2017) Limb girdle muscular dystrophy type 2I: no correlation between clinical severity, histopathology and glycosylated alpha-dystroglycan levels in patients homozygous for common FKRP mutation. Neuromuscul Disord 27:619–626. https://doi.org/10.1016/j.nmd.2017.02.015

Article  PubMed  Google Scholar 

Anderson LV, Davison K (1999) Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 154:1017–1022. https://doi.org/10.1016/S0002-9440(10)65354-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

Balci-Hayta B, Talim B, Kale G, Dincer P (2018) LARGE expression in different types of muscular dystrophies other than dystroglycanopathy. BMC Neurol 18:207. https://doi.org/10.1186/s12883-018-1207-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119:199–207. https://doi.org/10.1242/jcs.02814

Article  CAS  PubMed  Google Scholar 

Barthelemy F, Woods JD, Nieves-Rodriguez S, Douine ED, Wang R, Wanagat J, Miceli MC, Nelson SF (2020) A well-tolerated core needle muscle biopsy process suitable for children and adults. Muscle Nerve 62:688–698. https://doi.org/10.1002/mus.27041

Article  PubMed  PubMed Central  Google Scholar 

Bass JJ, Wilkinson DJ, Rankin D, Phillips BE, Szewczyk NJ, Smith K, Atherton PJ (2017) An overview of technical considerations for western blotting applications to physiological research. Scand J Med Sci Sports 27:4–25. https://doi.org/10.1111/sms.12702

Article  CAS  PubMed  Google Scholar 

Briggs DC, Yoshida-Moriguchi T, Zheng T, Venzke D, Anderson ME, Strazzulli A, Moracci M, Yu L, Hohenester E, Campbell KP (2016) Structural basis of laminin binding to the LARGE glycans on dystroglycan. Nat Chem Biol 12:810–814. https://doi.org/10.1038/nchembio.2146

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F (2001) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10:2851–2859. https://doi.org/10.1093/hmg/10.25.2851

Article  CAS  PubMed  Google Scholar 

Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F (2004) Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol 164:727–737. https://doi.org/10.1016/s0002-9440(10)63160-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

TaJ B, Paul JW, Chan EC, Smith R, Tolosa JM (2019) Misleading westerns: common quantification mistakes in western blot densitometry and proposed corrective measures. Biomed Res Int 2019:5214821. https://doi.org/10.1155/2019/5214821

Article  CAS  Google Scholar 

Carberry S, Zweyer M, Swandulla D, Ohlendieck K (2012) Profiling of age-related changes in the tibialis anterior muscle proteome of the mdx mouse model of dystrophinopathy. J Biomed Biotechnol 2012:691641. https://doi.org/10.1155/2012/691641

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cataldi MP, Blaeser A, Lu P, Leroy V, Lu QL (2020) ISPD Overexpression enhances ribitol-induced glycosylation of alpha-dystroglycan in dystrophic FKRP mutant mice. Mol Ther Methods Clin Dev 17:271–280. https://doi.org/10.1016/j.omtm.2019.12.005

Article  CAS  PubMed  Google Scholar 

Cataldi MP, Lu P, Blaeser A, Lu QL (2018) Ribitol restores functionally glycosylated alpha-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice. Nat Commun 9:3448. https://doi.org/10.1038/s41467-018-05990-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chandel I, Campbell KP (2023) Identification of matriglycan by dual exoglycosidase digestion of alpha-dystroglycan. Bio Protoc 13:e4827. https://doi.org/10.21769/BioProtoc.4827

Article  CAS  PubMed  PubMed Central  Google Scholar 

Charleston JS, Schnell FJ, Dworzak J, Donoghue C, Lewis S, Chen L, Young GD, Milici AJ, Voss J, Dealwis U, Wentworth B, Rodino-Klapac LR, Sahenk Z, Frank D, Mendell JR (2018) Eteplirsen treatment for duchenne muscular dystrophy: exon skipping and dystrophin production. Neurology 90:e2146–e2154. https://doi.org/10.1212/WNL.0000000000005680

Article  CAS  PubMed  Google Scholar 

Chen Y, Zhou Z, Yang W, Bi N, Xu J, He J, Zhang R, Wang L, Abliz Z (2017) Development of a data-independent targeted metabolomics method for relative quantification using liquid chromatography coupled with tandem mass spectrometry. Anal Chem 89:6954–6962. https://doi.org/10.1021/acs.analchem.6b04727

Article  CAS  PubMed  Google Scholar 

Crowe KE, Shao G, Flanigan KM, Martin PT (2016) N-terminal alpha dystroglycan (alphaDG-N): a potential serum biomarker for duchenne muscular dystrophy. J Neuromuscul Dis 3:247–260. https://doi.org/10.3233/JND-150127

Article  PubMed  PubMed Central  Google Scholar 

Endo T (2015) Glycobiology of alpha-dystroglycan and muscular dystrophy. J Biochem 157:1–12. https://doi.org/10.1093/jb/mvu066

Article  CAS  PubMed  Google Scholar 

Ervasti JM, Campbell KP (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122:809–823. https://doi.org/10.1083/jcb.122.4.809

Article  CAS  PubMed  Google Scholar 

FDA guidance: Bioanalytical Method Validation Guidance for Industry. https://www.fda.gov/regulatory-information/search-fda-guidance-documents/bioanalytical-method-validation-guidance-industry.

Fritschy JM (2008) Is my antibody-staining specific? how to deal with pitfalls of immunohistochemistry. Eur J Neurosci 28:2365–2370. https://doi.org/10.1111/j.1460-9568.2008.06552.x

Article  PubMed  Google Scholar 

Georganopoulou DG, Moisiadis VG, Malik FA, Mohajer A, Dashevsky TM, Wuu ST, Hu CK (2021) A journey with LGMD: from protein abnormalities to patient impact. Protein J 40:466–488. https://doi.org/10.1007/s10930-021-10006-9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee 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 (2016) ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan. Nat Commun 7:11534. https://doi.org/10.1038/ncomms11534

Article  CAS  PubMed  PubMed Central  Google Scholar 

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130:2725–2735. https://doi.org/10.1093/brain/awm212

Article  PubMed  Google Scholar 

Han R, Kanagawa M, Yoshida-Moriguchi T, Rader EP, Ng RA, Michele DE, Muirhead DE, Kunz S, Moore SA, Iannaccone ST, Miyake K, Mcneil PL, Mayer U, Oldstone MB, Faulkner JA, Campbell KP (2009) Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A 106:12573–12579. https://doi.org/10.1073/pnas.0906545106

Article  PubMed  PubMed Central  Google Scholar 

Harrison R, Hitchen PG, Panico M, Morris HR, Mekhaiel D, Pleass RJ, Dell A, Hewitt JE, Haslam SM (2012) Glycoproteomic characterization of recombinant mouse alpha-dystroglycan. Glycobiology 22:662–675. https://doi.org/10.1093/glycob/cws002

Article  CAS  PubMed  PubMed Central  Google Scholar 

Heidebrecht F, Heidebrecht A, Schulz I, Behrens SE, Bader A (2009) Improved semiquantitative western blot technique with increased quantification range. J Immunol Methods 345:40–48. https://doi.org/10.1016/j.jim.2009.03.018

Article  CAS  PubMed  Google Scholar 

Hewitt JE (2009) Abnormal glycosylation of dystroglycan in human genetic disease. Biochim Biophys Acta 1792:853–861. https://doi.org/10.1016/j.bbadis.2009.06.003

Article  CAS  PubMed  Google Scholar 

Iachettini S, Valaperta R, Marchesi A, Perfetti A, Cuomo G, Fossati B, Vaienti L, Costa E, Meola G, Cardani R (2015) Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1. Eur J Histochem 59:2562. https://doi.org/10.4081/ejh.2015.2562

Article  CAS  PubMed  PubMed Central