| DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. | DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M., | 03/14/2024 |
| NAD+ enhances ribitol and ribose rescue of alpha-dystroglycan functional glycosylation in human FKRP-mutant myotubes. | NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.
Ortiz-Cordero C, Magli A, Dhoke NR, Kuebler T, Selvaraj S, Oliveira NA, Zhou H, Sham YY, Bang AG, Perlingeiro RC., Free PMC Article | 01/29/2022 |
| The Association Between beta-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma. | The Association Between β-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma.
Shareef SH, Amin K, Janson C., Free PMC Article | 12/11/2021 |
| The Molecular Basis and Biologic Significance of the beta-Dystroglycan-Emerin Interaction. | The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction.
Gómez-Monsivais WL, Monterrubio-Ledezma F, Huerta-Cantillo J, Mondragon-Gonzalez R, Alamillo-Iniesta A, García-Aguirre I, Azuara-Medina PM, Arguello-García R, Rivera-Monroy JE, Holaska JM, Hernández-Méndez JME, Garrido E, Magaña JJ, Winder SJ, Brancaccio A, Martínez-Vieyra I, Navarro-Garcia F, Cisneros B., Free PMC Article | 02/20/2021 |
| A novel DAG1 mutation has been found in a Chinese pedigree with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. | Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, Yin H, Li C, Chen L, Cui L, Banerjee S., Free PMC Article | 06/20/2020 |
| findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor | Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.
Beltrán D, Anderson ME, Bharathy N, Settelmeyer TP, Svalina MN, Bajwa Z, Shern JF, Gultekin SH, Cuellar MA, Yonekawa T, Keller C, Campbell KP., Free PMC Article | 05/9/2020 |
| This review focuses on two particular non-integrin laminin receptors in the epithelial context: dystroglycan and 37/67 laminin receptor (37/67LR).The 37/67LR is a still incompletely understood laminin receptor that is important to regulate intestinal epithelial cell function and could be involved in various pathological conditions. | Non-integrin laminin receptors in epithelia.
Cloutier G, Sallenbach-Morrissette A, Beaulieu JF. | 02/23/2019 |
| Study identified beta-dystroglycan as a substrate of WWP1 and found that the muscular dystrophy-causing mutation of WWP1 renders the enzyme hyperactive by relieving autoinhibition. | β-dystroglycan is regulated by a balance between WWP1-mediated degradation and protection from WWP1 by dystrophin and utrophin.
Cho EB, Yoo W, Yoon SK, Yoon JB. | 12/22/2018 |
| ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. | 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., Free PMC Article | 09/22/2018 |
| N-terminal alpha Dystroglycan ELISA signals were significantly reduced in Duchenne muscular dystrophy serum relative to serum from otherwise normal controls. | N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy.
Crowe KE, Shao G, Flanigan KM, Martin PT., Free PMC Article | 03/17/2018 |
| TMEM5 is a UDP-xylosyl transferase that elaborates the O-mannose glycan structure on alpha-dystroglycan. The authors demonstrate in a zebrafish model as well as in a human patient that defects in TMEM5 result in muscular dystrophy in combination with abnormal brain development. | 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., Free PMC Article | 12/2/2017 |
| Our results strongly suggest that the balance and integrity between the dystroglycan alpha and beta subunits are indispensable and responsible for the cell differentiation and proliferation in acute leukemia cells. | A role for dystroglycan in the pathophysiology of acute leukemic cells.
Alonso-Rangel L, Benítez-Guerrero T, Martínez-Vieyra I, Cisneros B, Martínez-Tovar A, Winder SJ, Cerecedo D. | 07/22/2017 |
| interation of DG with laminin and dynamin is involved in the regulation of AQP4 internalization | Aquaporin-4 Cell-Surface Expression and Turnover Are Regulated by Dystroglycan, Dynamin, and the Extracellular Matrix in Astrocytes.
Tham DK, Joshi B, Moukhles H., Free PMC Article | 06/24/2017 |
| The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol beta1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. | The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.
Manya H, Yamaguchi Y, Kanagawa M, Kobayashi K, Tajiri M, Akasaka-Manya K, Kawakami H, Mizuno M, Wada Y, Toda T, Endo T., Free PMC Article | 05/27/2017 |
| Data show that CD93 antigen proved to be phosphorylated on tyrosine 628 and 644 following cell adhesion on laminin through dystroglycan. | CD93 and dystroglycan cooperation in human endothelial cell adhesion and migration adhesion and migration.
Galvagni F, Nardi F, Maida M, Bernardini G, Vannuccini S, Petraglia F, Santucci A, Orlandini M., Free PMC Article | 01/28/2017 |
| alpha-DG-N removal as an important posttranslational control of endometrial receptivity and uterine fluid alpha-DG-N as a potential biomarker for receptivity in women. | Posttranslational removal of α-dystroglycan N terminus by PC5/6 cleavage is important for uterine preparation for embryo implantation in women.
Heng S, Paule SG, Li Y, Rombauts LJ, Vollenhoven B, Salamonsen LA, Nie G. | 11/28/2015 |
| Phosphorylation within the cysteine-rich region of dystrophin enhances its association with beta-dystroglycan and identifies a potential novel therapeutic target for skeletal muscle wasting. | Phosphorylation within the cysteine-rich region of dystrophin enhances its association with β-dystroglycan and identifies a potential novel therapeutic target for skeletal muscle wasting.
Swiderski K, Shaffer SA, Gallis B, Odom GL, Arnett AL, Scott Edgar J, Baum DM, Chee A, Naim T, Gregorevic P, Murphy KT, Moody J, Goodlett DR, Lynch GS, Chamberlain JS., Free PMC Article | 07/25/2015 |
| Novel mutations in DAG1 are associated with asymptomatic hyperCKemia with hypoglycosylation of alpha-dystroglycan. | DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.
Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I. | 05/9/2015 |
| Reduction of alpha-dystroglycan expression is correlated with glioma. | Reduction of α-dystroglycan expression is correlated with poor prognosis in glioma.
Zhang X, Dong XH, Ma Y, Li LF, Wu H, Zhou M, Gu YH, Li GZ, Wang DS, Zhang XF, Mou J, Qi JP. | 04/18/2015 |
| Depletion of DAG resulted in altered morphology and reduced properties of differentiated HL-60 cells, including chemotaxis, respiratory burst, phagocytic activities and markers of differentiation, implicating DAG as a protein involved in differentiation. | Dystroglycan depletion inhibits the functions of differentiated HL-60 cells.
Martínez-Zárate AD, Martínez-Vieyra I, Alonso-Rangel L, Cisneros B, Winder SJ, Cerecedo D. | 08/23/2014 |
| A report of a homozygous novel DAG1 missense mutation c.2006G>T in the beta-subunit of dystroglycan in two Libyan siblings with with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. | Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
Geis T, Marquard K, Rödl T, Reihle C, Schirmer S, von Kalle T, Bornemann A, Hehr U, Blankenburg M. | 06/28/2014 |
| The study provides evidence for at least three separate pools of dystroglycan complexes within myofibers that differ in composition and are differentially affected by loss of dystrophin. | Identification of new dystroglycan complexes in skeletal muscle.
Johnson EK, Li B, Yoon JH, Flanigan KM, Martin PT, Ervasti J, Montanaro F., Free PMC Article | 05/3/2014 |
| These data suggest that proteolysis, tyrosine phosphorylation and translocation of dystroglycan to the nucleus resulting in altered gene transcription could be important mechanisms in the progression of prostate cancer. | Nuclear targeting of dystroglycan promotes the expression of androgen regulated transcription factors in prostate cancer.
Mathew G, Mitchell A, Down JM, Jacobs LA, Hamdy FC, Eaton C, Rosario DJ, Cross SS, Winder SJ., Free PMC Article | 05/3/2014 |
| T192M point-mutation in dystroglycan leads to a weaker interactions with laminin-1, which leads to hypoglycosylation and which finally leads to the limb girdle disease. | Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.
Bhattacharya S, Das A, Ghosh S, Dasgupta R, Bagchi A. | 04/5/2014 |
| GTDC2 generates CTD110.6 antibody-reactive N-acetylglucosamine epitopes on the O-mannosylated alpha-dystroglycan. | GTDC2 modifies O-mannosylated α-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody.
Ogawa M, Nakamura N, Nakayama Y, Kurosaka A, Manya H, Kanagawa M, Endo T, Furukawa K, Okajima T. | 12/7/2013 |