-
2
-
-
33747180877
-
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects
-
Arbustini E., Pasotti M., Pilotto A., Pellegrini C., Grasso M., Previtali S., Repetto A., Bellini O., Azan G., Scaffino M., Campana C., Piccolo G., Vigano M., and Tavazzi L. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur. J. Heart Fail 8 (2006) 477-483
-
(2006)
Eur. J. Heart Fail
, vol.8
, pp. 477-483
-
-
Arbustini, E.1
Pasotti, M.2
Pilotto, A.3
Pellegrini, C.4
Grasso, M.5
Previtali, S.6
Repetto, A.7
Bellini, O.8
Azan, G.9
Scaffino, M.10
Campana, C.11
Piccolo, G.12
Vigano, M.13
Tavazzi, L.14
-
3
-
-
5144228375
-
The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?
-
Bär H., Strelkov S.V., Sjöberg G., Aebi U., and Herrmann H. The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?. J. Struct. Biol. 148 (2004) 137-152
-
(2004)
J. Struct. Biol.
, vol.148
, pp. 137-152
-
-
Bär, H.1
Strelkov, S.V.2
Sjöberg, G.3
Aebi, U.4
Herrmann, H.5
-
4
-
-
27244439232
-
Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages
-
Bär H., Mücke N., Kostareva A., Sjöberg G., Aebi U., and Herrmann H. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc. Natl. Acad. Sci. USA 102 (2005) 15099-15104
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 15099-15104
-
-
Bär, H.1
Mücke, N.2
Kostareva, A.3
Sjöberg, G.4
Aebi, U.5
Herrmann, H.6
-
5
-
-
33646144211
-
Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation
-
Bär H., Kostareva A., Sjöberg G., Sejersen T., Katus H.A., and Herrmann H. Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation. Exp. Cell Res. 312 (2006) 1554-1565
-
(2006)
Exp. Cell Res.
, vol.312
, pp. 1554-1565
-
-
Bär, H.1
Kostareva, A.2
Sjöberg, G.3
Sejersen, T.4
Katus, H.A.5
Herrmann, H.6
-
6
-
-
33745965925
-
Impact of disease mutations on the desmin filament assembly process
-
Bär H., Mücke N., Ringler P., Müller S.A., Kreplak L., Katus H.A., Aebi U., and Herrmann H. Impact of disease mutations on the desmin filament assembly process. J. Mol. Biol. 360 (2006) 1031-1042
-
(2006)
J. Mol. Biol.
, vol.360
, pp. 1031-1042
-
-
Bär, H.1
Mücke, N.2
Ringler, P.3
Müller, S.A.4
Kreplak, L.5
Katus, H.A.6
Aebi, U.7
Herrmann, H.8
-
7
-
-
19744363995
-
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro
-
Bär H., Fischer D., Goudeau B., Kley R.A., Clemen C.S., Vicart P., Herrmann H., Vorgerd M., and Schröder R. Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum. Mol. Genet. 14 (2005) 1251-1260
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1251-1260
-
-
Bär, H.1
Fischer, D.2
Goudeau, B.3
Kley, R.A.4
Clemen, C.S.5
Vicart, P.6
Herrmann, H.7
Vorgerd, M.8
Schröder, R.9
-
8
-
-
22744436103
-
A novel desmin R355P mutation causes cardiac and skeletal myopathy
-
Fidzianska A., Kotowicz J., Sadowska M., Goudeau B., Walczak E., Vicart P., and Hausmanowa-Petrusewicz I. A novel desmin R355P mutation causes cardiac and skeletal myopathy. Neuromuscul. Disord. 15 (2005) 525-531
-
(2005)
Neuromuscul. Disord.
, vol.15
, pp. 525-531
-
-
Fidzianska, A.1
Kotowicz, J.2
Sadowska, M.3
Goudeau, B.4
Walczak, E.5
Vicart, P.6
Hausmanowa-Petrusewicz, I.7
-
9
-
-
0018141798
-
The intermediate-sized filaments in rat kangaroo PtK2 cells. II. Structure and composition of isolated filaments
-
Franke W.W., Schmid E., Osborn M., and Weber K. The intermediate-sized filaments in rat kangaroo PtK2 cells. II. Structure and composition of isolated filaments. Cytobiologie 17 (1978) 392-411
-
(1978)
Cytobiologie
, vol.17
, pp. 392-411
-
-
Franke, W.W.1
Schmid, E.2
Osborn, M.3
Weber, K.4
-
11
-
-
17344373157
-
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
-
Goldfarb L.G., Park K.Y., Cervenakova L., Gorokhova S., Lee H.S., Vasconcelos O., Nagle J.W., Semino-Mora C., Sivakumar K., and Dalakas M.C. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat. Genet. 19 (1998) 402-403
-
(1998)
Nat. Genet.
, vol.19
, pp. 402-403
-
-
Goldfarb, L.G.1
Park, K.Y.2
Cervenakova, L.3
Gorokhova, S.4
Lee, H.S.5
Vasconcelos, O.6
Nagle, J.W.7
Semino-Mora, C.8
Sivakumar, K.9
Dalakas, M.C.10
-
12
-
-
30044434950
-
A-type lamin complexes and regenerative potential: a step towards understanding laminopathic diseases?
-
Gotzmann J., and Foisner R. A-type lamin complexes and regenerative potential: a step towards understanding laminopathic diseases?. Histochem. Cell Biol. 125 (2006) 33-41
-
(2006)
Histochem. Cell Biol.
, vol.125
, pp. 33-41
-
-
Gotzmann, J.1
Foisner, R.2
-
13
-
-
0022538727
-
Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line
-
Hedberg K.K., and Chen L.B. Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line. Exp. Cell Res. 163 (1986) 509-517
-
(1986)
Exp. Cell Res.
, vol.163
, pp. 509-517
-
-
Hedberg, K.K.1
Chen, L.B.2
-
14
-
-
0033618848
-
Intermediate filament assembly: temperature sensitivity and polymorphism
-
Herrmann H., and Aebi U. Intermediate filament assembly: temperature sensitivity and polymorphism. Cell Mol. Life Sci. 55 (1999) 1416-1431
-
(1999)
Cell Mol. Life Sci.
, vol.55
, pp. 1416-1431
-
-
Herrmann, H.1
Aebi, U.2
-
15
-
-
3943078618
-
Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds
-
Herrmann H., and Aebi U. Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds. Annu. Rev. Biochem. 73 (2004) 749-789
-
(2004)
Annu. Rev. Biochem.
, vol.73
, pp. 749-789
-
-
Herrmann, H.1
Aebi, U.2
-
16
-
-
0026559105
-
Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assembly
-
Herrmann H., Hofmann I., and Franke W.W. Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assembly. J. Mol. Biol. 223 (1992) 637-650
-
(1992)
J. Mol. Biol.
, vol.223
, pp. 637-650
-
-
Herrmann, H.1
Hofmann, I.2
Franke, W.W.3
-
17
-
-
14244253598
-
Isolation, characterization, and in vitro assembly of intermediate filaments
-
Herrmann H., Kreplak L., and Aebi U. Isolation, characterization, and in vitro assembly of intermediate filaments. Method Cell Biol. 78 (2004) 3-24
-
(2004)
Method Cell Biol.
, vol.78
, pp. 3-24
-
-
Herrmann, H.1
Kreplak, L.2
Aebi, U.3
-
18
-
-
0344096498
-
Characterization of distinct early assembly units of different intermediate filament proteins
-
Herrmann H., Haner M., Brettel M., Ku N.O., and Aebi U. Characterization of distinct early assembly units of different intermediate filament proteins. J. Mol. Biol. 286 (1999) 1403-1420
-
(1999)
J. Mol. Biol.
, vol.286
, pp. 1403-1420
-
-
Herrmann, H.1
Haner, M.2
Brettel, M.3
Ku, N.O.4
Aebi, U.5
-
19
-
-
0037282536
-
Functional complexity of intermediate filament cytoskeletons: from structure to assembly to gene ablation
-
Herrmann H., Hesse M., Reichenzeller M., Aebi U., and Magin T.M. Functional complexity of intermediate filament cytoskeletons: from structure to assembly to gene ablation. Int. Rev. Cytol. 223 (2003) 83-175
-
(2003)
Int. Rev. Cytol.
, vol.223
, pp. 83-175
-
-
Herrmann, H.1
Hesse, M.2
Reichenzeller, M.3
Aebi, U.4
Magin, T.M.5
-
20
-
-
0030596170
-
Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domains
-
Herrmann H., Haner M., Brettel M., Müller S.A., Goldie K.N., Fedtke B., Lustig A., Franke W.W., and Aebi U. Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domains. J. Mol. Biol. 264 (1996) 933-953
-
(1996)
J. Mol. Biol.
, vol.264
, pp. 933-953
-
-
Herrmann, H.1
Haner, M.2
Brettel, M.3
Müller, S.A.4
Goldie, K.N.5
Fedtke, B.6
Lustig, A.7
Franke, W.W.8
Aebi, U.9
-
21
-
-
0026343580
-
Assembly and structure of calcium-induced thick vimentin filaments
-
Hofmann I., Herrmann H., and Franke W.W. Assembly and structure of calcium-induced thick vimentin filaments. Eur. J. Cell Biol. 56 (1991) 328-341
-
(1991)
Eur. J. Cell Biol.
, vol.56
, pp. 328-341
-
-
Hofmann, I.1
Herrmann, H.2
Franke, W.W.3
-
22
-
-
10744233465
-
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
-
Kaminska A., Strelkov S.V., Goudeau B., Olive M., Dagvadorj A., Fidzianska A., Simon-Casteras M., Shatunov A., Dalakas M.C., Ferrer I., Kwiecinski H., Vicart P., and Goldfarb L.G. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum. Genet. 114 (2004) 306-313
-
(2004)
Hum. Genet.
, vol.114
, pp. 306-313
-
-
Kaminska, A.1
Strelkov, S.V.2
Goudeau, B.3
Olive, M.4
Dagvadorj, A.5
Fidzianska, A.6
Simon-Casteras, M.7
Shatunov, A.8
Dalakas, M.C.9
Ferrer, I.10
Kwiecinski, H.11
Vicart, P.12
Goldfarb, L.G.13
-
23
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
24
-
-
0020024240
-
Intermediate filaments: a chemically heterogeneous, developmentally regulated class of proteins
-
Lazarides E. Intermediate filaments: a chemically heterogeneous, developmentally regulated class of proteins. Annu. Rev. Biochem. 51 (1982) 219-250
-
(1982)
Annu. Rev. Biochem.
, vol.51
, pp. 219-250
-
-
Lazarides, E.1
-
25
-
-
33644883329
-
Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts
-
Liu J., Chen Q., Huang W., Horak K.M., Zheng H., Mestril R., and Wang X. Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts. FASEB J. 20 (2006) 362-364
-
(2006)
FASEB J.
, vol.20
, pp. 362-364
-
-
Liu, J.1
Chen, Q.2
Huang, W.3
Horak, K.M.4
Zheng, H.5
Mestril, R.6
Wang, X.7
-
26
-
-
33646536969
-
Nuclear lamins, diseases and aging
-
Mattout A., Dechat T., Adam S.A., Goldman R.D., and Gruenbaum Y. Nuclear lamins, diseases and aging. Curr. Opin. Cell Biol. 18 (2006) 335-341
-
(2006)
Curr. Opin. Cell Biol.
, vol.18
, pp. 335-341
-
-
Mattout, A.1
Dechat, T.2
Adam, S.A.3
Goldman, R.D.4
Gruenbaum, Y.5
-
28
-
-
2942565983
-
Molecular and biophysical characterization of assembly-starter units of human vimentin
-
Mücke N., Wedig T., Burer A., Marekov L.N., Steinert P.M., Langowski J., Aebi U., and Herrmann H. Molecular and biophysical characterization of assembly-starter units of human vimentin. J. Mol. Biol. 340 (2004) 97-114
-
(2004)
J. Mol. Biol.
, vol.340
, pp. 97-114
-
-
Mücke, N.1
Wedig, T.2
Burer, A.3
Marekov, L.N.4
Steinert, P.M.5
Langowski, J.6
Aebi, U.7
Herrmann, H.8
-
29
-
-
0038669889
-
A dysfunctional desmin mutation in a patient with severe generalized myopathy
-
Munoz-Marmol A.M., Strasser G., Isamat M., Coulombe P.A., Yang Y., Roca X., Vela E., Mate J.L., Coll J., Fernandez-Figueras M.T., Navas-Palacios J.J., Ariza A., and Fuchs E. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc. Natl. Acad. Sci. USA 95 (1998) 11312-11317
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 11312-11317
-
-
Munoz-Marmol, A.M.1
Strasser, G.2
Isamat, M.3
Coulombe, P.A.4
Yang, Y.5
Roca, X.6
Vela, E.7
Mate, J.L.8
Coll, J.9
Fernandez-Figueras, M.T.10
Navas-Palacios, J.J.11
Ariza, A.12
Fuchs, E.13
-
30
-
-
33646232231
-
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
-
Muntoni F., Bonne G., Goldfarb L.G., Mercuri E., Piercy R.J., Burke M., Yaou R.B., Richard P., Recan D., Shatunov A., Sewry C.A., and Brown S.C. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 129 (2006) 1260-1268
-
(2006)
Brain
, vol.129
, pp. 1260-1268
-
-
Muntoni, F.1
Bonne, G.2
Goldfarb, L.G.3
Mercuri, E.4
Piercy, R.J.5
Burke, M.6
Yaou, R.B.7
Richard, P.8
Recan, D.9
Shatunov, A.10
Sewry, C.A.11
Brown, S.C.12
-
31
-
-
0026729140
-
In vivo expression and stoichiometric sulfation of the artificial protein sulfophilin, a polymer of tyrosine sulfation sites
-
Niehrs C., Huttner W.B., and Ruther U. In vivo expression and stoichiometric sulfation of the artificial protein sulfophilin, a polymer of tyrosine sulfation sites. J. Biol. Chem. 267 (1992) 15938-15942
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 15938-15942
-
-
Niehrs, C.1
Huttner, W.B.2
Ruther, U.3
-
32
-
-
6344273968
-
Intermediate filament proteins and their associated diseases
-
Omary M.B., Coulombe P.A., and McLean W.H. Intermediate filament proteins and their associated diseases. N. Engl. J. Med. 351 (2004) 2087-2100
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 2087-2100
-
-
Omary, M.B.1
Coulombe, P.A.2
McLean, W.H.3
-
33
-
-
0033746702
-
Desmin splice variants causing cardiac and skeletal myopathy
-
Park K.Y., Dalakas M.C., Goebel H.H., Ferrans V.J., Semino-Mora C., Litvak S., Takeda K., and Goldfarb L.G. Desmin splice variants causing cardiac and skeletal myopathy. J. Med. Genet. 37 (2000) 851-857
-
(2000)
J. Med. Genet.
, vol.37
, pp. 851-857
-
-
Park, K.Y.1
Dalakas, M.C.2
Goebel, H.H.3
Ferrans, V.J.4
Semino-Mora, C.5
Litvak, S.6
Takeda, K.7
Goldfarb, L.G.8
-
34
-
-
17444414616
-
Microdissection of the sequence and structure of intermediate filament chains
-
Parry D.A. Microdissection of the sequence and structure of intermediate filament chains. Adv. Protein Chem. 70 (2005) 113-142
-
(2005)
Adv. Protein Chem.
, vol.70
, pp. 113-142
-
-
Parry, D.A.1
-
35
-
-
33645090204
-
Search and destroy: the role of protein quality control in maintaining cardiac function
-
Patterson C. Search and destroy: the role of protein quality control in maintaining cardiac function. J. Mol. Cell Cardiol. 40 (2006) 438-441
-
(2006)
J. Mol. Cell Cardiol.
, vol.40
, pp. 438-441
-
-
Patterson, C.1
-
37
-
-
0023769829
-
Control of myogenesis in the mouse myogenic C2 cell line by medium composition and by insulin: characterization of permissive and inducible C2 myoblasts
-
Pinset C., Montarras D., Chenevert J., Minty A., Barton P., Laurent C., and Gros F. Control of myogenesis in the mouse myogenic C2 cell line by medium composition and by insulin: characterization of permissive and inducible C2 myoblasts. Differentiation 38 (1988) 28-34
-
(1988)
Differentiation
, vol.38
, pp. 28-34
-
-
Pinset, C.1
Montarras, D.2
Chenevert, J.3
Minty, A.4
Barton, P.5
Laurent, C.6
Gros, F.7
-
38
-
-
33947331651
-
-
Pruszczyk, P., Kostera-Pruszczyk, A., Shatunov, A., Goudeau, B., Draminska, A., Takeda, K., Vicart, P., Strelkov, S.V., Goldfarb, L., Kaminska, A., 2006. Autosomal dominant restrictive cardiomyopathy with atrioventricular conduction block caused by a mutation located in a highly conserved segment of desmin coiled-coil domain. Int. J. Cardiol. (Epub ahead of print).
-
-
-
-
39
-
-
0030198631
-
Characterization of disulfide crosslink formation of human vimentin at the dimer, tetramer, and intermediate filament levels
-
Rogers K.R., Herrmann H., and Franke W.W. Characterization of disulfide crosslink formation of human vimentin at the dimer, tetramer, and intermediate filament levels. J. Struct. Biol. 117 (1996) 55-69
-
(1996)
J. Struct. Biol.
, vol.117
, pp. 55-69
-
-
Rogers, K.R.1
Herrmann, H.2
Franke, W.W.3
-
40
-
-
0037444403
-
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
-
Schröder R., Goudeau B., Simon M.C., Fischer D., Eggermann T., Clemen C.S., Li Z., Reimann J., Xue Z., Rudnik-Schöneborn S., Zerres K., van der Ven P.F., Fürst D.O., Kunz W.S., and Vicart P. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum. Mol. Genet. 12 (2003) 657-669
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 657-669
-
-
Schröder, R.1
Goudeau, B.2
Simon, M.C.3
Fischer, D.4
Eggermann, T.5
Clemen, C.S.6
Li, Z.7
Reimann, J.8
Xue, Z.9
Rudnik-Schöneborn, S.10
Zerres, K.11
van der Ven, P.F.12
Fürst, D.O.13
Kunz, W.S.14
Vicart, P.15
-
41
-
-
0035936792
-
The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms
-
Seidman J.G., and Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104 (2001) 557-567
-
(2001)
Cell
, vol.104
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
42
-
-
0037086445
-
Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly
-
Strelkov S.V., Herrmann H., Geisler N., Wedig T., Zimbelmann R., Aebi U., and Burkhard P. Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly. EMBO J. 21 (2002) 1255-1266
-
(2002)
EMBO J.
, vol.21
, pp. 1255-1266
-
-
Strelkov, S.V.1
Herrmann, H.2
Geisler, N.3
Wedig, T.4
Zimbelmann, R.5
Aebi, U.6
Burkhard, P.7
-
43
-
-
25144515509
-
Nuclear envelope, nuclear lamina, and inherited disease
-
Worman H.J., and Courvalin J.C. Nuclear envelope, nuclear lamina, and inherited disease. Int. Rev. Cytol. 246 (2005) 231-279
-
(2005)
Int. Rev. Cytol.
, vol.246
, pp. 231-279
-
-
Worman, H.J.1
Courvalin, J.C.2
|