The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy

Bozzi M, Cassetta A, Covaceuszach S, Bigotti MG, Bannister S, Hübner W, Sciandra F, Lamba D, Brancaccio A (2015)
PLOS ONE 10(5): e0124277.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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DOI
Autor*in
Bozzi, Manuela; Cassetta, Alberto; Covaceuszach, Sonia; Bigotti, Maria Giulia; Bannister, SaskiaUniBi; Hübner, WolfgangUniBi ; Sciandra, Francesca; Lamba, Doriano; Brancaccio, Andrea
Einrichtung
Fakultät für Physik > AG Biomolekulare Photonik
Erscheinungsjahr
2015
Zeitschriftentitel
PLOS ONE
Band
10
Ausgabe
5
Art.-Nr.
e0124277
Urheberrecht / Lizenzen
Creative Commons Namensnennung 4.0 International Public License (CC-BY 4.0)
ISSN
1932-6203
Page URI
https://pub.uni-bielefeld.de/record/2737340

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Bozzi M, Cassetta A, Covaceuszach S, et al. The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy. PLOS ONE. 2015;10(5): e0124277.
Bozzi, M., Cassetta, A., Covaceuszach, S., Bigotti, M. G., Bannister, S., Hübner, W., Sciandra, F., et al. (2015). The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy. PLOS ONE, 10(5), e0124277. doi:10.1371/journal.pone.0124277
Bozzi, Manuela, Cassetta, Alberto, Covaceuszach, Sonia, Bigotti, Maria Giulia, Bannister, Saskia, Hübner, Wolfgang, Sciandra, Francesca, Lamba, Doriano, and Brancaccio, Andrea. 2015. “The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy”. PLOS ONE 10 (5): e0124277.
Bozzi, M., Cassetta, A., Covaceuszach, S., Bigotti, M. G., Bannister, S., Hübner, W., Sciandra, F., Lamba, D., and Brancaccio, A. (2015). The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy. PLOS ONE 10:e0124277.
Bozzi, M., et al., 2015. The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy. PLOS ONE, 10(5): e0124277.
M. Bozzi, et al., “The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy”, PLOS ONE, vol. 10, 2015, : e0124277.
Bozzi, M., Cassetta, A., Covaceuszach, S., Bigotti, M.G., Bannister, S., Hübner, W., Sciandra, F., Lamba, D., Brancaccio, A.: The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy. PLOS ONE. 10, : e0124277 (2015).
Bozzi, Manuela, Cassetta, Alberto, Covaceuszach, Sonia, Bigotti, Maria Giulia, Bannister, Saskia, Hübner, Wolfgang, Sciandra, Francesca, Lamba, Doriano, and Brancaccio, Andrea. “The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy”. PLOS ONE 10.5 (2015): e0124277.

9 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

A molecular overview of the primary dystroglycanopathies.
Brancaccio A., J Cell Mol Med 23(5), 2019
PMID: 30838779
Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation.
de Greef JC, Slütter B, Anderson ME, Hamlyn R, O'Campo Landa R, McNutt EJ, Hara Y, Pewe LL, Venzke D, Matsumura K, Saito F, Harty JT, Campbell KP., Proc Natl Acad Sci U S A 116(23), 2019
PMID: 31097590
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.
Signorino G, Covaceuszach S, Bozzi M, Hübner W, Mönkemöller V, Konarev PV, Cassetta A, Brancaccio A, Sciandra F., Hum Mutat 39(2), 2018
PMID: 29134705
An evaluation of the evolution of the gene structure of dystroglycan.
Brancaccio A, Adams JC., BMC Res Notes 10(1), 2017
PMID: 28057052
Expansion of divergent SEA domains in cell surface proteins and nucleoporin 54.
Pei J, Grishin NV., Protein Sci 26(3), 2017
PMID: 27977898
Structural flexibility of human α-dystroglycan.
Covaceuszach S, Bozzi M, Bigotti MG, Sciandra F, Konarev PV, Brancaccio A, Cassetta A., FEBS Open Bio 7(8), 2017
PMID: 28781947
The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan.
Covaceuszach S, Bozzi M, Bigotti MG, Sciandra F, Konarev PV, Brancaccio A, Cassetta A., PLoS One 12(10), 2017
PMID: 29036200
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
Stiers KM, Kain BN, Graham AC, Beamer LJ., J Mol Biol 428(8), 2016
PMID: 26972339
In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE.
Bhattacharya S, Das A, Bagchi A., Comput Biol Chem 64(), 2016
PMID: 27565399

50 References

Daten bereitgestellt von Europe PubMed Central.

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix.
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP., Nature 355(6362), 1992
PMID: 1741056
Dystroglycan: from biosynthesis to pathogenesis of human disease.
Barresi R, Campbell KP., J. Cell. Sci. 119(Pt 2), 2006
PMID: 16410545
Membrane organization of the dystrophin-glycoprotein complex.
Ervasti JM, Campbell KP., Cell 66(6), 1991
PMID: 1913804
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.
Ervasti JM, Campbell KP., J. Cell Biol. 122(4), 1993
PMID: 8349731
The multiple affinities of α-dystroglycan.
Sciandra F, Bozzi M, Bigotti MG, Brancaccio A., Curr. Protein Pept. Sci. 14(7), 2013
PMID: 24206164
The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.
Wells L., J. Biol. Chem. 288(10), 2013
PMID: 23329833
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP., Nature 418(6896), 2002
PMID: 12140558
Mutagenesis at the alpha-beta interface impairs the cleavage of the dystroglycan precursor.
Sciandra F, Bozzi M, Morlacchi S, Galtieri A, Giardina B, Brancaccio A., FEBS J. 276(17), 2009
PMID: 19694806
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.
Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP., Science 335(6064), 2012
PMID: 22223806
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP., Science 341(6148), 2013
PMID: 23929950
Electron microscopic evidence for a mucin-like region in chick muscle alpha-dystroglycan.
Brancaccio A, Schulthess T, Gesemann M, Engel J., FEBS Lett. 368(1), 1995
PMID: 7615068
The N-terminal region of alpha-dystroglycan is an autonomous globular domain.
Brancaccio A, Schulthess T, Gesemann M, Engel J., Eur. J. Biochem. 246(1), 1997
PMID: 9210479
The structure of the N-terminal region of murine skeletal muscle alpha-dystroglycan discloses a modular architecture.
Bozic D, Sciandra F, Lamba D, Brancaccio A., J. Biol. Chem. 279(43), 2004
PMID: 15326183
Site mapping and characterization of O-glycan structures on alpha-dystroglycan isolated from rabbit skeletal muscle.
Stalnaker SH, Hashmi S, Lim JM, Aoki K, Porterfield M, Gutierrez-Sanchez G, Wheeler J, Ervasti JM, Bergmann C, Tiemeyer M, Wells L., J. Biol. Chem. 285(32), 2010
PMID: 20507986
Glycosylation of α-dystroglycan: O-mannosylation influences the subsequent addition of GalNAc by UDP-GalNAc polypeptide N-acetylgalactosaminyltransferases.
Tran DT, Lim JM, Liu M, Stalnaker SH, Wells L, Ten Hagen KG, Live D., J. Biol. Chem. 287(25), 2012
PMID: 22549772
Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.
Hara Y, Kanagawa M, Kunz S, Yoshida-Moriguchi T, Satz JS, Kobayashi YM, Zhu Z, Burden SJ, Oldstone MB, Campbell KP., Proc. Natl. Acad. Sci. U.S.A. 108(42), 2011
PMID: 21987822
Glycoproteomic characterization of recombinant mouse α-dystroglycan.
Harrison R, Hitchen PG, Panico M, Morris HR, Mekhaiel D, Pleass RJ, Dell A, Hewitt JE, Haslam SM., Glycobiology 22(5), 2012
PMID: 22241827
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltran-Valero de Bernabe D, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP., N. Engl. J. Med. 364(10), 2011
PMID: 21388311
Insertion of a myc-tag within α-dystroglycan domains improves its biochemical and microscopic detection.
Morlacchi S, Sciandra F, Bigotti MG, Bozzi M, Hubner W, Galtieri A, Giardina B, Brancaccio A., BMC Biochem. 13(), 2012
PMID: 22835149
Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa.
Schagger H, von Jagow G., Anal. Biochem. 166(2), 1987
PMID: 2449095
XDS.
Kabsch W., Acta Crystallogr. D Biol. Crystallogr. 66(Pt 2), 2010
PMID: 20124692
The CCP4 suite: programs for protein crystallography.
Collaborative Computational Project, Number 4., Acta Crystallogr. D Biol. Crystallogr. 50(Pt 5), 1994
PMID: 15299374
Phaser crystallographic software.
McCoy AJ, Grosse-Kunstleve RW, Adams PD, Winn MD, Storoni LC, Read RJ., J Appl Crystallogr 40(Pt 4), 2007
PMID: 19461840
Towards automated crystallographic structure refinement with phenix.refine.
Afonine PV, Grosse-Kunstleve RW, Echols N, Headd JJ, Moriarty NW, Mustyakimov M, Terwilliger TC, Urzhumtsev A, Zwart PH, Adams PD., Acta Crystallogr. D Biol. Crystallogr. 68(Pt 4), 2012
PMID: 22505256
Features and development of Coot.
Emsley P, Lohkamp B, Scott WG, Cowtan K., Acta Crystallogr. D Biol. Crystallogr. 66(Pt 4), 2010
PMID: 20383002
MolProbity: all-atom structure validation for macromolecular crystallography.
Chen VB, Arendall WB 3rd, Headd JJ, Keedy DA, Immormino RM, Kapral GJ, Murray LW, Richardson JS, Richardson DC., Acta Crystallogr. D Biol. Crystallogr. 66(Pt 1), 2009
PMID: 20057044
STRIDE: a web server for secondary structure assignment from known atomic coordinates of proteins.
Heinig M, Frishman D., Nucleic Acids Res. 32(Web Server issue), 2004
PMID: 15215436
Inference of macromolecular assemblies from crystalline state.
Krissinel E, Henrick K., J. Mol. Biol. 372(3), 2007
PMID: 17681537
WAP (version 2.0): an updated computing and visualization server for water molecules
AUTHOR UNKNOWN, 2008

AUTHOR UNKNOWN, 0
A fast and accurate procedure to collect and analyze unfolding fluorescence signal: the case of dystroglycan domains.
Di Stasio E, Bizzarri P, Misiti F, Pavoni E, Brancaccio A., Biophys. Chem. 107(2), 2004
PMID: 14962600
Fiji: an open-source platform for biological-image analysis.
Schindelin J, Arganda-Carreras I, Frise E, Kaynig V, Longair M, Pietzsch T, Preibisch S, Rueden C, Saalfeld S, Schmid B, Tinevez JY, White DJ, Hartenstein V, Eliceiri K, Tomancak P, Cardona A., Nat. Methods 9(7), 2012
PMID: 22743772

AUTHOR UNKNOWN, 2006
Water mediation in protein folding and molecular recognition.
Levy Y, Onuchic JN., Annu Rev Biophys Biomol Struct 35(), 2006
PMID: 16689642
Just add water! The effect of water on the specificity of protein-ligand binding sites and its potential application to drug design.
Ladbury JE., Chem. Biol. 3(12), 1996
PMID: 9000013
Core and surface mutations affect folding kinetics, stability and cooperativity in IL-1 beta: does alteration in buried water play a role?
Covalt JC Jr, Roy M, Jennings PA., J. Mol. Biol. 307(2), 2001
PMID: 11254388
Molecular recognition by LARGE is essential for expression of functional dystroglycan.
Kanagawa M, Saito F, Kunz S, Yoshida-Moriguchi T, Barresi R, Kobayashi YM, Muschler J, Dumanski JP, Michele DE, Oldstone MB, Campbell KP., Cell 117(7), 2004
PMID: 15210115
Increased levels of expression of dystroglycan may protect the heart.
Brancaccio A., Neuromuscul. Disord. 23(11), 2013
PMID: 23911074
Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.
Bhattacharya S, Das A, Ghosh S, Dasgupta R, Bagchi A., Gene 537(1), 2013
PMID: 24361964
Agrin is a high-affinity binding protein of dystroglycan in non-muscle tissue.
Gesemann M, Brancaccio A, Schumacher B, Ruegg MA., J. Biol. Chem. 273(1), 1998
PMID: 9417121

AUTHOR UNKNOWN, 0

AUTHOR UNKNOWN, 0
Conformational consequences of protein glycosylation: preparation of O-mannosyl serine and threonine building blocks, and their incorporation into glycopeptide sequences derived from alpha-dystroglycan.
Liu M, Borgert A, Barany G, Live D., Biopolymers 90(3), 2008
PMID: 17868094
Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.
Live D, Wells L, Boons GJ., Chembiochem 14(18), 2013
PMID: 24318691
Probing the stability of the "naked" mucin-like domain of human α-dystroglycan.
Bozzi M, Di Stasio E, Scaglione GL, Desiderio C, Martelli C, Giardina B, Sciandra F, Brancaccio A., BMC Biochem. 14(), 2013
PMID: 23815856
Structural basis for simultaneous recognition of an O-glycan and its attached peptide of mucin family by immune receptor PILRα.
Kuroki K, Wang J, Ose T, Yamaguchi M, Tabata S, Maita N, Nakamura S, Kajikawa M, Kogure A, Satoh T, Arase H, Maenaka K., Proc. Natl. Acad. Sci. U.S.A. 111(24), 2014
PMID: 24889612
Golgi glycosylation.
Stanley P., Cold Spring Harb Perspect Biol 3(4), 2011
PMID: 21441588
The carbohydrate-active enzymes database (CAZy) in 2013.
Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B., Nucleic Acids Res. 42(Database issue), 2013
PMID: 24270786
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., Neurology 84(3), 2014
PMID: 25503980
A second Ig-like domain identified in dystroglycan by molecular modelling and dynamics.
De Rosa MC, Pirolli D, Bozzi M, Sciandra F, Giardina B, Brancaccio A., J. Mol. Graph. Model. 29(8), 2011
PMID: 21605994
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