| Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Cullup T., Kho A.L., Dionisi-Vici C., Brandmeier B., Smith F., Urry Z., Simpson M.A., Yau S., Bertini E., McClelland V. et al.
Nat. Genet. 45:83-87(2013) · UniProtKB (1) · Mapped (3) |
| Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck? Ratti J., Rostkova E., Gautel M., Pfuhl M.
J. Biol. Chem. 286:12650-12658(2011) · Mapped (8) |
| Developmental regulation of MURF ubiquitin ligases and autophagy proteins nbr1, p62/SQSTM1 and LC3 during cardiac myofibril assembly and turnover. Perera S., Holt M.R., Mankoo B.S., Gautel M.
Dev. Biol. 351:46-61(2011) · Mapped (31) |
| Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex. Pernigo S., Fukuzawa A., Bertz M., Holt M., Rief M., Steiner R.A., Gautel M.
Proc. Natl. Acad. Sci. U.S.A. 107:2908-2913(2010) · UniProtKB (1) · Mapped (1) |
| Distinct sarcomeric substrates are responsible for protein kinase D-mediated regulation of cardiac myofilament Ca2+ sensitivity and cross-bridge cycling. Bardswell S.C., Cuello F., Rowland A.J., Sadayappan S., Robbins J., Gautel M., Walker J.W., Kentish J.C., Avkiran M.
J. Biol. Chem. 285:5674-5682(2010) · Mapped (9) |
| Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover. Waters S., Marchbank K., Solomon E., Whitehouse C., Gautel M.
FEBS Lett. 583:1846-1852(2009) · UniProtKB (2) · Mapped (25) |
| Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1. Ababou A., Rostkova E., Mistry S., Le Masurier C., Gautel M., Pfuhl M.
J. Mol. Biol. 384:615-630(2008) · UniProtKB (1) · Mapped (4) |
| Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. Fukuzawa A., Lange S., Holt M., Vihola A., Carmignac V., Ferreiro A., Udd B., Gautel M.
J. Cell. Sci. 121:1841-1851(2008) · Mapped (5) |
| Rigid conformation of an immunoglobulin domain tandem repeat in the A-band of the elastic muscle protein titin. Muller S., Lange S., Gautel M., Wilmanns M.
J. Mol. Biol. 371:469-480(2007) · Mapped (13) |
| C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Carmignac V., Salih M.A.M., Quijano-Roy S., Marchand S., Al Rayess M.M., Mukhtar M.M., Urtizberea J.A., Labeit S., Guicheney P., Leturcq F. et al.
Ann. Neurol. 61:340-351(2007) · UniProtKB (1) · Mapped (12) |
| Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2. Ababou A., Gautel M., Pfuhl M.
J. Biol. Chem. 282:9204-9215(2007) · Mapped (8) |
| Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment. Blankenfeldt W., Thoma N.H., Wray J.S., Gautel M., Schlichting I.
Proc. Natl. Acad. Sci. U.S.A. 103:17713-17717(2006) · Mapped (11) |
| Targeted homozygous deletion of M-band titin in cardiomyocytes prevents sarcomere formation. Musa H., Meek S., Gautel M., Peddie D., Smith A.J., Peckham M.
J. Cell. Sci. 119:4322-4331(2006) · Mapped (36) |
| Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus. Pinotsis N., Petoukhov M., Lange S., Svergun D., Zou P., Gautel M., Wilmanns M.
J. Struct. Biol. 155:239-250(2006) · UniProtKB (1) · Mapped (14) |
| Complete human gene structure of obscurin: implications for isoform generation by differential splicing. Fukuzawa A., Idowu S., Gautel M.
J. Muscle Res. Cell Motil. 26:427-434(2005) · UniProtKB (1) · Mapped (4) |
| Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk. Zou P., Pinotsis N., Lange S., Song Y.-H., Popov A., Mavridis I., Mayans O.M., Gautel M., Wilmanns M.
Nature 439:229-233(2006) · UniProtKB (2) |
| The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin. Franzot G., Sjoblom B., Gautel M., Djinovic Carugo K.
J. Mol. Biol. 348:151-165(2005) · UniProtKB (1) · Mapped (4) |
| The kinase domain of titin controls muscle gene expression and protein turnover. Lange S., Xiang F., Yakovenko A., Vihola A., Hackman P., Rostkova E., Kristensen J., Brandmeier B., Franzen G., Hedberg B. et al.
Science 308:1599-1603(2005) · UniProtKB (7) · Mapped (12) |
| Protein kinase D is a novel mediator of cardiac troponin I phosphorylation and regulates myofilament function. Haworth R.S., Cuello F., Herron T.J., Franzen G., Kentish J.C., Gautel M., Avkiran M.
Circ. Res. 95:1091-1099(2004) · UniProtKB (2) |
| Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism. Harris S.P., Rostkova E., Gautel M., Moss R.L.
Circ. Res. 95:930-936(2004) · Mapped (5) |
| Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C). Ababou A., Zhou L., Gautel M., Pfuhl M.
J. Biomol. NMR 29:431-432(2004) · UniProtKB (1) · Mapped (7) |
| Association of the chaperone alphaB-crystallin with titin in heart muscle. Bullard B., Ferguson C., Minajeva A., Leake M.C., Gautel M., Labeit D., Ding L., Labeit S., Horwitz J., Leonard K.R. et al.
J. Biol. Chem. 279:7917-7924(2004) · UniProtKB (2) · Mapped (14) |
| A targeted deletion of the C-terminal end of titin, including the titin kinase domain, impairs myofibrillogenesis. Miller G., Musa H., Gautel M., Peckham M.
J. Cell. Sci. 116:4811-4819(2003) · Mapped (21) |
| Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy. Idowu S.M., Gautel M., Perkins S.J., Pfuhl M.
J. Mol. Biol. 329:745-761(2003) · UniProtKB (1) |
| Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. Bonnemann C.G., Thompson T.G., van der Ven P.F., Goebel H.H., Warlo I., Vollmers B., Reimann J., Herms J., Gautel M., Takada F. et al.
J. Neurol. Sci. 206:71-78(2003) · Mapped (3) |
