-
1
-
-
0037359564
-
The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins
-
Fontaine J.-M., Rest J.S., Welsh M.J., Benndorf R. The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins. Cell Stress Chaperones 2003, 8:62-69.
-
(2003)
Cell Stress Chaperones
, vol.8
, pp. 62-69
-
-
Fontaine, J.-M.1
Rest, J.S.2
Welsh, M.J.3
Benndorf, R.4
-
2
-
-
0037358061
-
The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10
-
Kappé G., Franck E., Verschuure P., Boelens W.C., Leunissen J.A., de Jong W.W. The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10. Cell Stress Chaperones 2003, 8:53-61.
-
(2003)
Cell Stress Chaperones
, vol.8
, pp. 53-61
-
-
Kappé, G.1
Franck, E.2
Verschuure, P.3
Boelens, W.C.4
Leunissen, J.A.5
de Jong, W.W.6
-
3
-
-
64549097439
-
Guidelines for the nomenclature of the human heat shock proteins
-
Kampinga H.H., Hageman J., Vos M.J., Kubota H., Tanguay R.M., Bruford E.A., Cheetham M.E., Chen B., Hightower L.E. Guidelines for the nomenclature of the human heat shock proteins. Cell Stress Chaperones 2009, 14:105-111.
-
(2009)
Cell Stress Chaperones
, vol.14
, pp. 105-111
-
-
Kampinga, H.H.1
Hageman, J.2
Vos, M.J.3
Kubota, H.4
Tanguay, R.M.5
Bruford, E.A.6
Cheetham, M.E.7
Chen, B.8
Hightower, L.E.9
-
4
-
-
0032077156
-
Genealogy of the alpha-crystallin-small heat shock protein superfamily
-
de Jong W.W., Caspers G.J., Leunissen J.A. Genealogy of the alpha-crystallin-small heat shock protein superfamily. Int. J. Biol. Macromol. 1998, 22:151-162.
-
(1998)
Int. J. Biol. Macromol.
, vol.22
, pp. 151-162
-
-
de Jong, W.W.1
Caspers, G.J.2
Leunissen, J.A.3
-
6
-
-
77955665257
-
Why proteins without an alpha-crystallin domain should not be included in the human small heat shock protein family HSPB
-
Kappé G., Boelens W.C., de Jong W.W. Why proteins without an alpha-crystallin domain should not be included in the human small heat shock protein family HSPB. Cell Stress Chaperones 2010, 15:457-461.
-
(2010)
Cell Stress Chaperones
, vol.15
, pp. 457-461
-
-
Kappé, G.1
Boelens, W.C.2
de Jong, W.W.3
-
7
-
-
84934439863
-
The cellular 'networking' of mammalian Hsp27 and its functions in the control of protein folding, redox state and apoptosis
-
Arrigo A.-P. The cellular 'networking' of mammalian Hsp27 and its functions in the control of protein folding, redox state and apoptosis. Adv. Exp. Med. Biol. 2007, 594:14-26.
-
(2007)
Adv. Exp. Med. Biol.
, vol.594
, pp. 14-26
-
-
Arrigo, A.-P.1
-
8
-
-
46849116411
-
Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families
-
Vos M.J., Hageman J., Carra S., Kampinga H.H. Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families. Biochemistry 2008, 47:7001-7011.
-
(2008)
Biochemistry
, vol.47
, pp. 7001-7011
-
-
Vos, M.J.1
Hageman, J.2
Carra, S.3
Kampinga, H.H.4
-
9
-
-
84858003372
-
Small heat shock proteins and α-crystallins: dynamic proteins with flexible functions
-
Basha E., O'Neill H., Vierling E. Small heat shock proteins and α-crystallins: dynamic proteins with flexible functions. Trends Biochem. Sci. 2012, 37:106-117.
-
(2012)
Trends Biochem. Sci.
, vol.37
, pp. 106-117
-
-
Basha, E.1
O'Neill, H.2
Vierling, E.3
-
10
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P., Caron A., Guicheney P., Li Z., Prévost M.C., Faure A., Chateau D., Chapon F., Tomé F., Dupret J.M., Paulin D., Fardeau M. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat. Genet. 1998, 20:92-95.
-
(1998)
Nat. Genet.
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prévost, M.C.5
Faure, A.6
Chateau, D.7
Chapon, F.8
Tomé, F.9
Dupret, J.M.10
Paulin, D.11
Fardeau, M.12
-
11
-
-
84963732609
-
Small stress proteins in the central nervous system: From neurodegeneration to neuroprotection
-
Nova Science Publishers, New York, S. Simon, A.-P. Arrigo (Eds.)
-
Wyttenbach A., Hands S., O'Connor V. Small stress proteins in the central nervous system: From neurodegeneration to neuroprotection. Small Stress Proteins And Human Diseases 2012, 117-146. Nova Science Publishers, New York. S. Simon, A.-P. Arrigo (Eds.).
-
(2012)
Small Stress Proteins And Human Diseases
, pp. 117-146
-
-
Wyttenbach, A.1
Hands, S.2
O'Connor, V.3
-
13
-
-
84895308310
-
HSPB1 and HSPB8 mutations in neuropathies
-
Nova Science Publishers, New York, S. Simon, A.-P. Arrigo (Eds.)
-
Benndorf R. HSPB1 and HSPB8 mutations in neuropathies. Small stress proteins and human diseases 2012, 301-324. Nova Science Publishers, New York. S. Simon, A.-P. Arrigo (Eds.).
-
(2012)
Small stress proteins and human diseases
, pp. 301-324
-
-
Benndorf, R.1
-
14
-
-
57749119543
-
Human mutation in the anti-apoptotic heat shock protein 20 abrogates its cardioprotective effects
-
Nicolaou P., Knöll R., Haghighi K., Fan G.C., Dorn G.W., Hasenfuss G., Kranias E.G. Human mutation in the anti-apoptotic heat shock protein 20 abrogates its cardioprotective effects. J. Biol. Chem. 2008, 283:33465-33471.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 33465-33471
-
-
Nicolaou, P.1
Knöll, R.2
Haghighi, K.3
Fan, G.C.4
Dorn, G.W.5
Hasenfuss, G.6
Kranias, E.G.7
-
15
-
-
77957841871
-
Independent evolution of the core domain and its flanking sequences in small heat shock proteins
-
Kriehuber T., Rattei T., Weinmaier T., Bepperling A., Haslbeck M., Buchner J. Independent evolution of the core domain and its flanking sequences in small heat shock proteins. FASEB J. 2010, 24:3633-3642.
-
(2010)
FASEB J.
, vol.24
, pp. 3633-3642
-
-
Kriehuber, T.1
Rattei, T.2
Weinmaier, T.3
Bepperling, A.4
Haslbeck, M.5
Buchner, J.6
-
16
-
-
33947501381
-
The folding and evolution of multidomain proteins
-
Han J.H., Batey S., Nickson A.A., Teichmann S.A., Clarke J. The folding and evolution of multidomain proteins. Nat. Rev. Mol. Cell Biol. 2007, 8:319-330.
-
(2007)
Nat. Rev. Mol. Cell Biol.
, vol.8
, pp. 319-330
-
-
Han, J.H.1
Batey, S.2
Nickson, A.A.3
Teichmann, S.A.4
Clarke, J.5
-
17
-
-
0027764344
-
Protein sequence alignments: a strategy for the hierarchical analysis of residue conservation
-
Livingstone C.D., Barton G.J. Protein sequence alignments: a strategy for the hierarchical analysis of residue conservation. Comput. Appl. Biosci. 1993, 9:745-756.
-
(1993)
Comput. Appl. Biosci.
, vol.9
, pp. 745-756
-
-
Livingstone, C.D.1
Barton, G.J.2
-
18
-
-
71449113440
-
The genetic code-more than just a table
-
Berleant D., White M., Pierce E., Tudoreanu E., Boeszoermenyi A., Shtridelman Y., Macosko J.C. The genetic code-more than just a table. Cell. Biochem. Biophys. 2009, 55:107-116.
-
(2009)
Cell. Biochem. Biophys.
, vol.55
, pp. 107-116
-
-
Berleant, D.1
White, M.2
Pierce, E.3
Tudoreanu, E.4
Boeszoermenyi, A.5
Shtridelman, Y.6
Macosko, J.C.7
-
19
-
-
0024598146
-
Fast and sensitive multiple sequence alignments on a microcomputer
-
Higgins D.G., Sharp P.M. Fast and sensitive multiple sequence alignments on a microcomputer. Comput. Appl. Biosci. 1989, 5:151-153.
-
(1989)
Comput. Appl. Biosci.
, vol.5
, pp. 151-153
-
-
Higgins, D.G.1
Sharp, P.M.2
-
20
-
-
17744396121
-
Not so different after all: a comparison of methods for detecting amino acid sites under selection
-
Kosakovsky Pond S.L., Frost S.D. Not so different after all: a comparison of methods for detecting amino acid sites under selection. Mol. Biol. Evol. 2005, 22:1208-1222.
-
(2005)
Mol. Biol. Evol.
, vol.22
, pp. 1208-1222
-
-
Kosakovsky Pond, S.L.1
Frost, S.D.2
-
21
-
-
15844406550
-
HyPhy: hypothesis testing using phylogenies
-
Pond S.L., Frost S.D., Muse S.V. HyPhy: hypothesis testing using phylogenies. Bioinformatics 2005, 21:676-679.
-
(2005)
Bioinformatics
, vol.21
, pp. 676-679
-
-
Pond, S.L.1
Frost, S.D.2
Muse, S.V.3
-
22
-
-
17744395033
-
Datamonkey: rapid detection of selective pressure on individual sites of codon alignments
-
Pond S.L., Frost S.D. Datamonkey: rapid detection of selective pressure on individual sites of codon alignments. Bioinformatics 2005, 21:2531-2533.
-
(2005)
Bioinformatics
, vol.21
, pp. 2531-2533
-
-
Pond, S.L.1
Frost, S.D.2
-
23
-
-
84864605220
-
Detecting individual sites subject to episodic diversifying selection
-
Murrell B., Wertheim J.O., Moola S., Weighill T., Scheffler K., Kosakovsky Pond S.L. Detecting individual sites subject to episodic diversifying selection. PLoS Genet. 2012, 8:e1002764.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002764
-
-
Murrell, B.1
Wertheim, J.O.2
Moola, S.3
Weighill, T.4
Scheffler, K.5
Kosakovsky Pond, S.L.6
-
24
-
-
35448989800
-
Effect of mutations in the beta5-beta7 loop on the structure and properties of human small heat shock protein HSP22 (HspB8, H11)
-
Kasakov A.S., Bukach O.V., Seit-Nebi A.S., Marston S.B., Gusev N.B. Effect of mutations in the beta5-beta7 loop on the structure and properties of human small heat shock protein HSP22 (HspB8, H11). FEBS J. 2007, 274:5628-5642.
-
(2007)
FEBS J.
, vol.274
, pp. 5628-5642
-
-
Kasakov, A.S.1
Bukach, O.V.2
Seit-Nebi, A.S.3
Marston, S.B.4
Gusev, N.B.5
-
25
-
-
0036258111
-
The IARC TP53 database: new online mutation analysis and recommendations to users
-
Olivier M., Eeles R., Hollstein M., Khan M.A., Harris C.C., Hainaut P. The IARC TP53 database: new online mutation analysis and recommendations to users. Hum. Mutat. 2002, 19:607-614.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 607-614
-
-
Olivier, M.1
Eeles, R.2
Hollstein, M.3
Khan, M.A.4
Harris, C.C.5
Hainaut, P.6
-
26
-
-
84857129568
-
The role of intrinsically disordered regions in the structure and functioning of small heat shock proteins
-
Sudnitsyna M.V., Mymrikov E.V., Seit-Nebi A.S., Gusev N.B. The role of intrinsically disordered regions in the structure and functioning of small heat shock proteins. Curr. Protein Pept. Sci. 2012, 13:76-85.
-
(2012)
Curr. Protein Pept. Sci.
, vol.13
, pp. 76-85
-
-
Sudnitsyna, M.V.1
Mymrikov, E.V.2
Seit-Nebi, A.S.3
Gusev, N.B.4
-
27
-
-
30044445875
-
Evidence for an essential function of the N terminus of a small heat shock protein in vivo, independent of in vitro chaperone activity
-
Giese K.C., Basha E., Catague B.Y., Vierling E. Evidence for an essential function of the N terminus of a small heat shock protein in vivo, independent of in vitro chaperone activity. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:18896-18901.
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 18896-18901
-
-
Giese, K.C.1
Basha, E.2
Catague, B.Y.3
Vierling, E.4
-
28
-
-
42349107955
-
Site-directed mutations in the C-terminal extension of human alphaB-crystallin affect chaperone function and block amyloid fibril formation
-
Treweek T.M., Ecroyd H., Williams D.M., Meehan S., Carver J.A., Walker M.J. Site-directed mutations in the C-terminal extension of human alphaB-crystallin affect chaperone function and block amyloid fibril formation. PLoS ONE 2007, 2:e1046.
-
(2007)
PLoS ONE
, vol.2
, pp. e1046
-
-
Treweek, T.M.1
Ecroyd, H.2
Williams, D.M.3
Meehan, S.4
Carver, J.A.5
Walker, M.J.6
-
29
-
-
84455168004
-
Roles of the N- and C-terminal sequences in Hsp27 self-association and chaperone activity
-
Lelj-Garolla B., Mauk A.G. Roles of the N- and C-terminal sequences in Hsp27 self-association and chaperone activity. Protein Sci. 2012, 21:122-133.
-
(2012)
Protein Sci.
, vol.21
, pp. 122-133
-
-
Lelj-Garolla, B.1
Mauk, A.G.2
-
30
-
-
84856820287
-
Sequence, structure, and dynamic determinants of Hsp27 (HspB1) equilibrium dissociation are encoded by the N-terminal domain
-
McDonald E.T., Bortolus M., Koteiche H.A., Mchaourab H.S. Sequence, structure, and dynamic determinants of Hsp27 (HspB1) equilibrium dissociation are encoded by the N-terminal domain. Biochemistry 2012, 51:1257-1268.
-
(2012)
Biochemistry
, vol.51
, pp. 1257-1268
-
-
McDonald, E.T.1
Bortolus, M.2
Koteiche, H.A.3
Mchaourab, H.S.4
-
31
-
-
84865569485
-
Structural aspects and chaperone activity of human HspB3: role of the 'C-Terminal Extension'
-
Asthana A., Raman B., Ramakrishna T., Rao C.M. Structural aspects and chaperone activity of human HspB3: role of the 'C-Terminal Extension'. Cell. Biochem. Biophys. 2012, 64:61-72.
-
(2012)
Cell. Biochem. Biophys.
, vol.64
, pp. 61-72
-
-
Asthana, A.1
Raman, B.2
Ramakrishna, T.3
Rao, C.M.4
-
32
-
-
0029956553
-
Effects of site-directed mutations on the chaperone-like activity of alphaB-crystallin
-
Plater M.L., Goode D., Crabbe M.J. Effects of site-directed mutations on the chaperone-like activity of alphaB-crystallin. J. Biol. Chem. 1996, 271:28558-28566.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 28558-28566
-
-
Plater, M.L.1
Goode, D.2
Crabbe, M.J.3
-
33
-
-
0036299753
-
Mutation of COOH-terminal lysines in overexpressed alpha B-crystallin abrogates ischemic protection in cardiomyocytes
-
Martin J.L., Bluhm W.F., He H., Mestril R., Dillmann W.H. Mutation of COOH-terminal lysines in overexpressed alpha B-crystallin abrogates ischemic protection in cardiomyocytes. Am. J. Physiol. Heart Circ. Physiol. 2002, 283:H85-H91.
-
(2002)
Am. J. Physiol. Heart Circ. Physiol.
, vol.283
, pp. H85-H91
-
-
Martin, J.L.1
Bluhm, W.F.2
He, H.3
Mestril, R.4
Dillmann, W.H.5
-
34
-
-
1342334759
-
Interaction of human HSP22 (HSPB8) with other small heat shock proteins
-
Sun X., Fontaine J.-M., Rest J.S., Shelden E.A., Welsh M.J., Benndorf R. Interaction of human HSP22 (HSPB8) with other small heat shock proteins. J. Biol. Chem. 2004, 279:2394-2402.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 2394-2402
-
-
Sun, X.1
Fontaine, J.-M.2
Rest, J.S.3
Shelden, E.A.4
Welsh, M.J.5
Benndorf, R.6
-
35
-
-
0034294838
-
Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L
-
Hahner A., Erdmann J., Kallisch H., Fleck E., Regitz-Zagrosek V. Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L. Hum. Mutat. 2000, 16:374.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 374
-
-
Hahner, A.1
Erdmann, J.2
Kallisch, H.3
Fleck, E.4
Regitz-Zagrosek, V.5
-
36
-
-
74949103668
-
Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease
-
Matkovich S.J., Van Booven D.J., Hindes A., Kang M.Y., Druley T.E., Vallania F.L., Mitra R.D., Reilly M.P., Cappola T.P., Dorn G.W. Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J. Clin. Invest. 2010, 120:280-289.
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 280-289
-
-
Matkovich, S.J.1
Van Booven, D.J.2
Hindes, A.3
Kang, M.Y.4
Druley, T.E.5
Vallania, F.L.6
Mitra, R.D.7
Reilly, M.P.8
Cappola, T.P.9
Dorn, G.W.10
-
37
-
-
58149243285
-
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
-
Houlden H., Laura M., Wavrant-De Vrièze F., Blake J., Wood N., Reilly M.M. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 2008, 71:1660-1668.
-
(2008)
Neurology
, vol.71
, pp. 1660-1668
-
-
Houlden, H.1
Laura, M.2
Wavrant-De Vrièze, F.3
Blake, J.4
Wood, N.5
Reilly, M.M.6
-
38
-
-
83755173702
-
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients
-
Capponi S., Geroldi A., Fossa P., Grandis M., Ciotti P., Gulli R., Schenone A., Mandich P., Bellone E. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. J. Peripher. Nerv. Syst. 2011, 16:287-294.
-
(2011)
J. Peripher. Nerv. Syst.
, vol.16
, pp. 287-294
-
-
Capponi, S.1
Geroldi, A.2
Fossa, P.3
Grandis, M.4
Ciotti, P.5
Gulli, R.6
Schenone, A.7
Mandich, P.8
Bellone, E.9
-
39
-
-
34548239171
-
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response
-
Dierick I., Irobi J., Janssens S., Theuns J., Lemmens R., Jacobs A., Corsmit E., Hersmus N., Van Den Bosch L., Robberecht W., De Jonghe P., Van Broeckhoven C., Timmerman V. Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response. Hum. Mutat. 2007, 28:830.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 830
-
-
Dierick, I.1
Irobi, J.2
Janssens, S.3
Theuns, J.4
Lemmens, R.5
Jacobs, A.6
Corsmit, E.7
Hersmus, N.8
Van Den Bosch, L.9
Robberecht, W.10
De Jonghe, P.11
Van Broeckhoven, C.12
Timmerman, V.13
-
40
-
-
2642563501
-
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
-
Evgrafov O.V., Mersiyanova I., Irobi J., Van Den Bosch L., Dierick I., Leung C.L., Schagina O., Verpoorten N., Van Impe K., Fedotov V., Dadali E., Auer-Grumbach M., Windpassinger C., Wagner K., Mitrovic Z., Hilton-Jones D., Talbot K., Martin J.J., Vasserman N., Tverskaya S., Polyakov A., Liem R.K., Gettemans J., Robberecht W., De Jonghe P., Timmerman V. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat. Genet. 2004, 36:602-606.
-
(2004)
Nat. Genet.
, vol.36
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, I.2
Irobi, J.3
Van Den Bosch, L.4
Dierick, I.5
Leung, C.L.6
Schagina, O.7
Verpoorten, N.8
Van Impe, K.9
Fedotov, V.10
Dadali, E.11
Auer-Grumbach, M.12
Windpassinger, C.13
Wagner, K.14
Mitrovic, Z.15
Hilton-Jones, D.16
Talbot, K.17
Martin, J.J.18
Vasserman, N.19
Tverskaya, S.20
Polyakov, A.21
Liem, R.K.22
Gettemans, J.23
Robberecht, W.24
De Jonghe, P.25
Timmerman, V.26
more..
-
41
-
-
27144555722
-
Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease
-
Liu X.M., Tang B.S., Zhao G.H., Xia K., Zhang F.F., Pan Q., Cai F., Hu Z.M., Zhang C., Chen B., Shen L., Zhang R.X., Jiang H. Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005, 22:510-513.
-
(2005)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.22
, pp. 510-513
-
-
Liu, X.M.1
Tang, B.S.2
Zhao, G.H.3
Xia, K.4
Zhang, F.F.5
Pan, Q.6
Cai, F.7
Hu, Z.M.8
Zhang, C.9
Chen, B.10
Shen, L.11
Zhang, R.X.12
Jiang, H.13
-
42
-
-
22644433190
-
Mutation analysis of the small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease
-
Tang B., Liu X., Zhao G., Luo W., Xia K., Pan Q., Cai F., Hu Z., Zhang C., Chen B., Zhang F., Shen L., Zhang R., Jiang H. Mutation analysis of the small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease. Arch. Neurol. 2005, 62:1201-1207.
-
(2005)
Arch. Neurol.
, vol.62
, pp. 1201-1207
-
-
Tang, B.1
Liu, X.2
Zhao, G.3
Luo, W.4
Xia, K.5
Pan, Q.6
Cai, F.7
Hu, Z.8
Zhang, C.9
Chen, B.10
Zhang, F.11
Shen, L.12
Zhang, R.13
Jiang, H.14
-
43
-
-
41149089652
-
Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)
-
James P.A., Rankin J., Talbot K. Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27). J. Neurol. Neurosurg. Psychiatry 2008, 79:461-463.
-
(2008)
J. Neurol. Neurosurg. Psychiatry
, vol.79
, pp. 461-463
-
-
James, P.A.1
Rankin, J.2
Talbot, K.3
-
44
-
-
58149299834
-
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation
-
Ikeda Y., Abe A., Ishida C., Takahashi K., Hayasaka K., Yamada M. A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation. J. Neurol. Sci. 2009, 277:9-12.
-
(2009)
J. Neurol. Sci.
, vol.277
, pp. 9-12
-
-
Ikeda, Y.1
Abe, A.2
Ishida, C.3
Takahashi, K.4
Hayasaka, K.5
Yamada, M.6
-
45
-
-
26944431622
-
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy
-
Kijima K., Numakura C., Goto T., Takahashi T., Otagiri T., Umetsu K., Hayasaka K. Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J. Hum. Genet. 2005, 50:473-476.
-
(2005)
J. Hum. Genet.
, vol.50
, pp. 473-476
-
-
Kijima, K.1
Numakura, C.2
Goto, T.3
Takahashi, T.4
Otagiri, T.5
Umetsu, K.6
Hayasaka, K.7
-
46
-
-
77958151888
-
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype
-
Luigetti M., Fabrizi G.M., Madia F., Ferrarini M., Conte A., Del Grande A., Tasca G., Tonali P.A., Sabatelli M. A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. J. Neurol. Sci. 2010, 298:114-117.
-
(2010)
J. Neurol. Sci.
, vol.298
, pp. 114-117
-
-
Luigetti, M.1
Fabrizi, G.M.2
Madia, F.3
Ferrarini, M.4
Conte, A.5
Del Grande, A.6
Tasca, G.7
Tonali, P.A.8
Sabatelli, M.9
-
47
-
-
44949255090
-
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
-
Dierick I., Baets J., Irobi J., Jacobs A., De Vriendt E., Deconinck T., Merlini L., Van den Bergh P., Rasic V.M., Robberecht W., Fischer D., Morales R.J., Mitrovic Z., Seeman P., Mazanec R., Kochanski A., Jordanova A., Auer-Grumbach M., Helderman-van den Enden A.T., Wokke J.H., Nelis E., De Jonghe P., Timmerman V. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008, 131:1217-1227.
-
(2008)
Brain
, vol.131
, pp. 1217-1227
-
-
Dierick, I.1
Baets, J.2
Irobi, J.3
Jacobs, A.4
De Vriendt, E.5
Deconinck, T.6
Merlini, L.7
Van den Bergh, P.8
Rasic, V.M.9
Robberecht, W.10
Fischer, D.11
Morales, R.J.12
Mitrovic, Z.13
Seeman, P.14
Mazanec, R.15
Kochanski, A.16
Jordanova, A.17
Auer-Grumbach, M.18
Helderman-van den Enden, A.T.19
Wokke, J.H.20
Nelis, E.21
De Jonghe, P.22
Timmerman, V.23
more..
-
48
-
-
76649105116
-
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach
-
Kolb S.J., Snyder P.J., Poi E.J., Renard E.A., Bartlett A., Gu S., Sutton S., Arnold W.D., Freimer M.L., Lawson V.H., Kissel J.T., Prior T.W. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 2010, 74:502-506.
-
(2010)
Neurology
, vol.74
, pp. 502-506
-
-
Kolb, S.J.1
Snyder, P.J.2
Poi, E.J.3
Renard, E.A.4
Bartlett, A.5
Gu, S.6
Sutton, S.7
Arnold, W.D.8
Freimer, M.L.9
Lawson, V.H.10
Kissel, J.T.11
Prior, T.W.12
-
49
-
-
2642539919
-
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
-
Irobi J., Van Impe K., Seeman P., Jordanova A., Dierick I., Verpoorten N., Michalik A., De Vriendt E., Jacobs A., Van Gerwen V., Vennekens K., Mazanec R., Tournev I., Hilton-Jones D., Talbot K., Kremensky I., Van Den Bosch L., Robberecht W., Van Vandekerckhove J., Van Broeckhoven C., Gettemans J., De Jonghe P., Timmerman V. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat. Genet. 2004, 36:597-601.
-
(2004)
Nat. Genet.
, vol.36
, pp. 597-601
-
-
Irobi, J.1
Van Impe, K.2
Seeman, P.3
Jordanova, A.4
Dierick, I.5
Verpoorten, N.6
Michalik, A.7
De Vriendt, E.8
Jacobs, A.9
Van Gerwen, V.10
Vennekens, K.11
Mazanec, R.12
Tournev, I.13
Hilton-Jones, D.14
Talbot, K.15
Kremensky, I.16
Van Den Bosch, L.17
Robberecht, W.18
Van Vandekerckhove, J.19
Van Broeckhoven, C.20
Gettemans, J.21
De Jonghe, P.22
Timmerman, V.23
more..
-
50
-
-
19944433659
-
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
-
Tang B.S., Zhao G.H., Luo W., Xia K., Cai F., Pan Q., Zhang R.X., Zhang F.F., Liu X.M., Chen B., Zhang C., Shen L., Jiang H., Long Z.G., Dai H.P. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 2005, 116:222-224.
-
(2005)
Hum. Genet.
, vol.116
, pp. 222-224
-
-
Tang, B.S.1
Zhao, G.H.2
Luo, W.3
Xia, K.4
Cai, F.5
Pan, Q.6
Zhang, R.X.7
Zhang, F.F.8
Liu, X.M.9
Chen, B.10
Zhang, C.11
Shen, L.12
Jiang, H.13
Long, Z.G.14
Dai, H.P.15
-
51
-
-
84880940762
-
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L
-
Nakhro K., Park J.M., Kim Y.J., Yoon B.R., Yoo J.H., Koo H., Choi B.O., Chung K.W. A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. Neuromuscul. Disord. 2013, 23:656-663.
-
(2013)
Neuromuscul. Disord.
, vol.23
, pp. 656-663
-
-
Nakhro, K.1
Park, J.M.2
Kim, Y.J.3
Yoon, B.R.4
Yoo, J.H.5
Koo, H.6
Choi, B.O.7
Chung, K.W.8
-
52
-
-
77955711004
-
Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3)
-
Sun X., Fontaine J.M., Hoppe A.D., Carra S., DeGuzman C., Martin J.L., Simon S., Vicart P., Welsh M.J., Landry J., Benndorf R. Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3). Cell Stress Chaperones 2010, 15:567-582.
-
(2010)
Cell Stress Chaperones
, vol.15
, pp. 567-582
-
-
Sun, X.1
Fontaine, J.M.2
Hoppe, A.D.3
Carra, S.4
DeGuzman, C.5
Martin, J.L.6
Simon, S.7
Vicart, P.8
Welsh, M.J.9
Landry, J.10
Benndorf, R.11
-
53
-
-
84856014037
-
A novel CRYAB mutation resulting in multisystemic disease
-
Sacconi S., Féasson L., Antoine J.C., Pécheux C., Bernard R., Cobo A.M., Casarin A., Salviati L., Desnuelle C., Urtizberea A. A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul. Disord. 2012, 22:66-72.
-
(2012)
Neuromuscul. Disord.
, vol.22
, pp. 66-72
-
-
Sacconi, S.1
Féasson, L.2
Antoine, J.C.3
Pécheux, C.4
Bernard, R.5
Cobo, A.M.6
Casarin, A.7
Salviati, L.8
Desnuelle, C.9
Urtizberea, A.10
-
54
-
-
18844469733
-
Myopathie familiale avec surcharge en desmine, sous forme de matériel granulo-filamentaire dense en microscopie électronique, avec mutation dans le gène de l'αB-cristalline
-
Fardeau M., Vicart P., Caron A., Chateau D., Chevallay M., Collin H., Chapon F., Duboc D., Eymard B., Tomé F.M., Dupret J.M., Paulin D., Guicheney P. Myopathie familiale avec surcharge en desmine, sous forme de matériel granulo-filamentaire dense en microscopie électronique, avec mutation dans le gène de l'αB-cristalline. Rev. Neurol. (Paris) 2000, 156:497-504.
-
(2000)
Rev. Neurol. (Paris)
, vol.156
, pp. 497-504
-
-
Fardeau, M.1
Vicart, P.2
Caron, A.3
Chateau, D.4
Chevallay, M.5
Collin, H.6
Chapon, F.7
Duboc, D.8
Eymard, B.9
Tomé, F.M.10
Dupret, J.M.11
Paulin, D.12
Guicheney, P.13
-
55
-
-
0018068469
-
Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique
-
Fardeau M., Godet-Guillain J., Tome F.M., Collin H., Gardeau S., Boffety C., Vernant P. Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique. Rev. Neurol. (Paris) 1978, 134:411-425.
-
(1978)
Rev. Neurol. (Paris)
, vol.134
, pp. 411-425
-
-
Fardeau, M.1
Godet-Guillain, J.2
Tome, F.M.3
Collin, H.4
Gardeau, S.5
Boffety, C.6
Vernant, P.7
-
56
-
-
33745365549
-
AlphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands
-
Pilotto A., Marziliano N., Pasotti M., Grasso M., Costante A.M., Arbustini E. alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. Biochem. Biophys. Res. Commun. 2006, 346:1115-1117.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.346
, pp. 1115-1117
-
-
Pilotto, A.1
Marziliano, N.2
Pasotti, M.3
Grasso, M.4
Costante, A.M.5
Arbustini, E.6
-
57
-
-
33344474711
-
AlphaB-crystallin mutation in dilated cardiomyopathy
-
Inagaki N., Hayashi T., Arimura T., Koga Y., Takahashi M., Shibata H., Teraoka K., Chikamori T., Yamashina A., Kimura A. AlphaB-crystallin mutation in dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 2006, 342:379-386.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.342
, pp. 379-386
-
-
Inagaki, N.1
Hayashi, T.2
Arimura, T.3
Koga, Y.4
Takahashi, M.5
Shibata, H.6
Teraoka, K.7
Chikamori, T.8
Yamashina, A.9
Kimura, A.10
-
58
-
-
77950932697
-
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
-
Reilich P., Schoser B., Schramm N., Krause S., Schessl J., Kress W., Müller-Höcker J., Walter M.C., Lochmuller H. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul. Disord. 2010, 40:255-259.
-
(2010)
Neuromuscul. Disord.
, vol.40
, pp. 255-259
-
-
Reilich, P.1
Schoser, B.2
Schramm, N.3
Krause, S.4
Schessl, J.5
Kress, W.6
Müller-Höcker, J.7
Walter, M.C.8
Lochmuller, H.9
-
59
-
-
77449132101
-
The small heat shock protein, HSPB6, in muscle function and disease
-
Dreiza C.M., Komalavilas P., Furnish E.J., Flynn C.R., Sheller M.R., Smoke C.C., Lopes L.B., Brophy C.B. The small heat shock protein, HSPB6, in muscle function and disease. Cell Stress Chaperones 2010, 15:1-11.
-
(2010)
Cell Stress Chaperones
, vol.15
, pp. 1-11
-
-
Dreiza, C.M.1
Komalavilas, P.2
Furnish, E.J.3
Flynn, C.R.4
Sheller, M.R.5
Smoke, C.C.6
Lopes, L.B.7
Brophy, C.B.8
-
60
-
-
75649083819
-
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene
-
Mandich P., Grandis M., Varese A., Geroldi A., Acquaviva M., Ciotti P., Gulli R., Doria-Lamba L., Fabrizi G.M., Giribaldi G., Pizzuti A., Schenone A., Bellone E. Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene. J. Child Neurol. 2010, 25:107-109.
-
(2010)
J. Child Neurol.
, vol.25
, pp. 107-109
-
-
Mandich, P.1
Grandis, M.2
Varese, A.3
Geroldi, A.4
Acquaviva, M.5
Ciotti, P.6
Gulli, R.7
Doria-Lamba, L.8
Fabrizi, G.M.9
Giribaldi, G.10
Pizzuti, A.11
Schenone, A.12
Bellone, E.13
-
61
-
-
79951952952
-
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy
-
Del Bigio M.R., Chudley A.E., Sarnat H.B., Campbell C., Goobie S., Chodirker B.N., Selcen D. Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. Ann. Neurol. 2011, 69:866-871.
-
(2011)
Ann. Neurol.
, vol.69
, pp. 866-871
-
-
Del Bigio, M.R.1
Chudley, A.E.2
Sarnat, H.B.3
Campbell, C.4
Goobie, S.5
Chodirker, B.N.6
Selcen, D.7
-
62
-
-
78650304556
-
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
-
Forrest K.M., Al-Sarraj S., Sewry C., Buk S., Tan S.V., Pitt M., Durward A., McDougall M., Irving M., Hanna M.G., Matthews E., Sarkozy A., Hudson J., Barresi R., Bushby K., Jungbluth H., Wraige E. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul. Disord. 2011, 21:37-40.
-
(2011)
Neuromuscul. Disord.
, vol.21
, pp. 37-40
-
-
Forrest, K.M.1
Al-Sarraj, S.2
Sewry, C.3
Buk, S.4
Tan, S.V.5
Pitt, M.6
Durward, A.7
McDougall, M.8
Irving, M.9
Hanna, M.G.10
Matthews, E.11
Sarkozy, A.12
Hudson, J.13
Barresi, R.14
Bushby, K.15
Jungbluth, H.16
Wraige, E.17
-
63
-
-
0344664368
-
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
-
Selcen D., Engel A.G. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann. Neurol. 2003, 54:804-810.
-
(2003)
Ann. Neurol.
, vol.54
, pp. 804-810
-
-
Selcen, D.1
Engel, A.G.2
-
64
-
-
84921839921
-
Congenital posterior pole cataract and adult onset dilating cardiomyopathy. Expanding the phenotype of αB-crystallinopathies
-
van der Smagt J.J., Vink A., Kirkels J.H., Nelen M., Ter Heide H., Molenschot M.M., Weger R.A., Schellekens P.A., Hoogendijk J., Dooijes D. Congenital posterior pole cataract and adult onset dilating cardiomyopathy. Expanding the phenotype of αB-crystallinopathies. Clin. Genet. 2013, 1-5.
-
(2013)
Clin. Genet.
, pp. 1-5
-
-
van der Smagt, J.J.1
Vink, A.2
Kirkels, J.H.3
Nelen, M.4
Ter Heide, H.5
Molenschot, M.M.6
Weger, R.A.7
Schellekens, P.A.8
Hoogendijk, J.9
Dooijes, D.10
-
65
-
-
15344340688
-
Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics
-
Johnson A.D., Wang D., Sadee W. Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics. Pharmacol. Ther. 2005, 106:19-38.
-
(2005)
Pharmacol. Ther.
, vol.106
, pp. 19-38
-
-
Johnson, A.D.1
Wang, D.2
Sadee, W.3
-
66
-
-
0028014337
-
The molecular basis of genetic dominance
-
Wilkie A.O.M. The molecular basis of genetic dominance. J. Med. Genet. 1994, 31:89-98.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 89-98
-
-
Wilkie, A.O.M.1
-
67
-
-
52149093002
-
The flux-summation theorem and the 'evolution of dominance'
-
Agutter P.S. The flux-summation theorem and the 'evolution of dominance'. J. Theor. Biol. 2008, 254:821-825.
-
(2008)
J. Theor. Biol.
, vol.254
, pp. 821-825
-
-
Agutter, P.S.1
-
68
-
-
45449101500
-
Natural selection on genes that underlie human disease susceptibility
-
Blekhman R., Man O., Herrmann L., Boyko A.R., Indap A., Kosiol C., Bustamante C.D., Teshima K.M., Przeworski M. Natural selection on genes that underlie human disease susceptibility. Curr. Biol. 2008, 18:883-889.
-
(2008)
Curr. Biol.
, vol.18
, pp. 883-889
-
-
Blekhman, R.1
Man, O.2
Herrmann, L.3
Boyko, A.R.4
Indap, A.5
Kosiol, C.6
Bustamante, C.D.7
Teshima, K.M.8
Przeworski, M.9
-
69
-
-
78650395329
-
The role played by natural selection on Mendelian traits in humans
-
Quintana-Murci L., Barreiro L.B. The role played by natural selection on Mendelian traits in humans. Ann. N. Y. Acad. Sci. 2010, 1214:1-17.
-
(2010)
Ann. N. Y. Acad. Sci.
, vol.1214
, pp. 1-17
-
-
Quintana-Murci, L.1
Barreiro, L.B.2
-
71
-
-
33746443339
-
Unresolved boundaries of evolutionary theory and the question of how inheritance systems evolve: 75 years of debate on the evolution of dominance
-
Bagheri H.C. Unresolved boundaries of evolutionary theory and the question of how inheritance systems evolve: 75 years of debate on the evolution of dominance. J. Exp. Zool. B Mol. Dev. Evol. 2006, 306:329-359.
-
(2006)
J. Exp. Zool. B Mol. Dev. Evol.
, vol.306
, pp. 329-359
-
-
Bagheri, H.C.1
-
72
-
-
77951640530
-
A generalized model of gene dosage and dominant negative effects in macromolecular complexes
-
Veitia R.A. A generalized model of gene dosage and dominant negative effects in macromolecular complexes. FASEB J. 2010, 24:994-1002.
-
(2010)
FASEB J.
, vol.24
, pp. 994-1002
-
-
Veitia, R.A.1
-
73
-
-
73949089947
-
Dominance and gene dosage balance in health and disease: why levels matter!
-
Veitia R.A., Birchler J.A. Dominance and gene dosage balance in health and disease: why levels matter!. J. Pathol. 2010, 220:174-185.
-
(2010)
J. Pathol.
, vol.220
, pp. 174-185
-
-
Veitia, R.A.1
Birchler, J.A.2
-
74
-
-
33644681986
-
The advantages and disadvantages of being polyploid
-
Comai L. The advantages and disadvantages of being polyploid. Nat. Rev. Genet. 2005, 6:836-846.
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 836-846
-
-
Comai, L.1
-
76
-
-
33845600705
-
Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants
-
Fontaine J.-M., Sun X., Hoppe A.D., Simon S., Vicart P., Welsh M.J., Benndorf R. Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants. FASEB J. 2006, 20:2168-2170.
-
(2006)
FASEB J.
, vol.20
, pp. 2168-2170
-
-
Fontaine, J.-M.1
Sun, X.2
Hoppe, A.D.3
Simon, S.4
Vicart, P.5
Welsh, M.J.6
Benndorf, R.7
-
77
-
-
36348957457
-
Myopathy-associated αB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins
-
Simon S., Fontaine J.-M., Martin J.L., Sun X., Hoppe A.D., Welsh M.J., Benndorf R., Vicart P. Myopathy-associated αB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins. J. Biol. Chem. 2007, 282:34276-34287.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 34276-34287
-
-
Simon, S.1
Fontaine, J.-M.2
Martin, J.L.3
Sun, X.4
Hoppe, A.D.5
Welsh, M.J.6
Benndorf, R.7
Vicart, P.8
-
78
-
-
84881521743
-
Analysis of the dominant effects mediated by wild type or R120G mutant of αB-crystallin (HspB5) towards Hsp27 (HspB1)
-
Simon S., Dimitrova V., Gibert B., Virot S., Mounier N., Nivon M., Kretz-Remy C., Corset V., Mehlen P., Arrigo A.-P. Analysis of the dominant effects mediated by wild type or R120G mutant of αB-crystallin (HspB5) towards Hsp27 (HspB1). PLoS ONE 2013, 8:e70545.
-
(2013)
PLoS ONE
, vol.8
, pp. e70545
-
-
Simon, S.1
Dimitrova, V.2
Gibert, B.3
Virot, S.4
Mounier, N.5
Nivon, M.6
Kretz-Remy, C.7
Corset, V.8
Mehlen, P.9
Arrigo, A.-P.10
-
79
-
-
0034578389
-
Aggresomes, inclusion bodies and protein aggregation
-
Kopito R.R. Aggresomes, inclusion bodies and protein aggregation. Trends Cell Biol. 2000, 10:524-530.
-
(2000)
Trends Cell Biol.
, vol.10
, pp. 524-530
-
-
Kopito, R.R.1
-
80
-
-
0344944630
-
Protein aggregation and aggregate toxicity: new insights into protein folding, misfolding diseases and biological evolution
-
Stefani M., Dobson C.M. Protein aggregation and aggregate toxicity: new insights into protein folding, misfolding diseases and biological evolution. J. Mol. Med. 2003, 81:678-699.
-
(2003)
J. Mol. Med.
, vol.81
, pp. 678-699
-
-
Stefani, M.1
Dobson, C.M.2
-
81
-
-
81455138093
-
Molecular mechanisms of α-crystallinopathy and its therapeutic strategy
-
Sanbe A. Molecular mechanisms of α-crystallinopathy and its therapeutic strategy. Biol. Pharm. Bull. 2011, 34:1653-1658.
-
(2011)
Biol. Pharm. Bull.
, vol.34
, pp. 1653-1658
-
-
Sanbe, A.1
-
82
-
-
84895392709
-
The two-faced nature of small heat shock proteins: Amyloid fibril assembly and the inhibition of fibril formation. Relevance to disease states
-
Nova Science Publishers, New York, S. Simon, A.-P. Arrigo (Eds.)
-
Ecroyd H., Meehan S., Carver J.A. The two-faced nature of small heat shock proteins: Amyloid fibril assembly and the inhibition of fibril formation. Relevance to disease states. Small Stress Proteins and Human Diseases 2012, 189-211. Nova Science Publishers, New York. S. Simon, A.-P. Arrigo (Eds.).
-
(2012)
Small Stress Proteins and Human Diseases
, pp. 189-211
-
-
Ecroyd, H.1
Meehan, S.2
Carver, J.A.3
-
83
-
-
84857219453
-
Protein localization in disease and therapy
-
Hung M.C., Link W. Protein localization in disease and therapy. J. Cell Sci. 2011, 124:3381-3392.
-
(2011)
J. Cell Sci.
, vol.124
, pp. 3381-3392
-
-
Hung, M.C.1
Link, W.2
-
84
-
-
84860668972
-
Alteration of protein folding and degradation in motor neuron diseases: implications and protective functions of small heat shock proteins
-
Carra S., Crippa V., Rusmini P., Boncoraglio A., Minoia M., Giorgetti E., Kampinga H.H., Poletti A. Alteration of protein folding and degradation in motor neuron diseases: implications and protective functions of small heat shock proteins. Prog. Neurobiol. 2012, 97:83-100.
-
(2012)
Prog. Neurobiol.
, vol.97
, pp. 83-100
-
-
Carra, S.1
Crippa, V.2
Rusmini, P.3
Boncoraglio, A.4
Minoia, M.5
Giorgetti, E.6
Kampinga, H.H.7
Poletti, A.8
-
85
-
-
31144453053
-
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes
-
Ackerley S., James P.A., Kalli A., French S., Davies K.E., Talbot K. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum. Mol. Genet. 2006, 15:347-354.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 347-354
-
-
Ackerley, S.1
James, P.A.2
Kalli, A.3
French, S.4
Davies, K.E.5
Talbot, K.6
-
86
-
-
36248947271
-
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1
-
Zhai J., Lin H., Julien J.P., Schlaepfer W.W. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. Hum. Mol. Genet. 2007, 16:3103-3116.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 3103-3116
-
-
Zhai, J.1
Lin, H.2
Julien, J.P.3
Schlaepfer, W.W.4
-
87
-
-
33644874959
-
Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy
-
Maloyan A., Sanbe A., Osinska H., Westfall M., Robinson D., Imahashi K., Murphy E., Robbins J. Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy. Circulation 2005, 112:3451-4361.
-
(2005)
Circulation
, vol.112
, pp. 3451-4361
-
-
Maloyan, A.1
Sanbe, A.2
Osinska, H.3
Westfall, M.4
Robinson, D.5
Imahashi, K.6
Murphy, E.7
Robbins, J.8
-
88
-
-
1842734895
-
Desmin myopathy
-
Goldfarb L.G., Vicart P., Goebel H.H., Dalakas M.C. Desmin myopathy. Brain 2004, 127:23-734.
-
(2004)
Brain
, vol.127
, pp. 23-734
-
-
Goldfarb, L.G.1
Vicart, P.2
Goebel, H.H.3
Dalakas, M.C.4
-
89
-
-
5444229769
-
Molecular genetics of distal hereditary motor neuropathies
-
Irobi J., De Jonghe P., Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum. Mol. Genet. 2004, 13(Suppl. 2):Rl95-R202.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. Rl95-R202
-
-
Irobi, J.1
De Jonghe, P.2
Timmerman, V.3
-
90
-
-
6944246275
-
Charcot-Marie-Tooth disease: an update
-
Shy M.E. Charcot-Marie-Tooth disease: an update. Curr. Opin. Neural. 2004, 17:579-585.
-
(2004)
Curr. Opin. Neural.
, vol.17
, pp. 579-585
-
-
Shy, M.E.1
-
91
-
-
80054947861
-
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy
-
Almeida-Souza L., Asselbergh B., d'Ydewalle C., Moonens K., Goethals S., de Winter V., Azmi A., Irobi J., Timmermans J.P., Gevaert K., Remaut H., Van Den Bosch L., Timmerman V., Janssens S. Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. J. Neurosci. 2011, 31:15320-15328.
-
(2011)
J. Neurosci.
, vol.31
, pp. 15320-15328
-
-
Almeida-Souza, L.1
Asselbergh, B.2
d'Ydewalle, C.3
Moonens, K.4
Goethals, S.5
de Winter, V.6
Azmi, A.7
Irobi, J.8
Timmermans, J.P.9
Gevaert, K.10
Remaut, H.11
Van Den Bosch, L.12
Timmerman, V.13
Janssens, S.14
-
92
-
-
34547681313
-
Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice
-
Rajasekaran N.S., Connell P., Christians E.S., Yan L.J., Taylor R.P., Orosz A., Zhang X.Q., Stevenson T.J., Peshock R.M., Leopold J.A., Barry W.H., Loscalzo J., Odelberg S.J., Benjamin I.J. Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice. Cell 2007, 130:427-439.
-
(2007)
Cell
, vol.130
, pp. 427-439
-
-
Rajasekaran, N.S.1
Connell, P.2
Christians, E.S.3
Yan, L.J.4
Taylor, R.P.5
Orosz, A.6
Zhang, X.Q.7
Stevenson, T.J.8
Peshock, R.M.9
Leopold, J.A.10
Barry, W.H.11
Loscalzo, J.12
Odelberg, S.J.13
Benjamin, I.J.14
-
93
-
-
79961168180
-
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
-
d'Ydewalle C., Krishnan J., Chiheb D.M., Van Damme P., Irobi J., Kozikowski A.P., Vanden Berghe P., Timmerman V., Robberecht W., Van Den Bosch L. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat. Med. 2011, 17:968-974.
-
(2011)
Nat. Med.
, vol.17
, pp. 968-974
-
-
d'Ydewalle, C.1
Krishnan, J.2
Chiheb, D.M.3
Van Damme, P.4
Irobi, J.5
Kozikowski, A.P.6
Vanden Berghe, P.7
Timmerman, V.8
Robberecht, W.9
Van Den Bosch, L.10
-
94
-
-
0034740261
-
AlphaB-crystallin in lens development and muscle integrity: a gene knockout approach
-
Brady J.P., Garland D.L., Green D.E., Tamm E.R., Giblin F.J., Wawrousek E.F. AlphaB-crystallin in lens development and muscle integrity: a gene knockout approach. Invest. Ophthalmol. Vis. Sci. 2001, 42:2924-2934.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.42
, pp. 2924-2934
-
-
Brady, J.P.1
Garland, D.L.2
Green, D.E.3
Tamm, E.R.4
Giblin, F.J.5
Wawrousek, E.F.6
-
95
-
-
3042711961
-
Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis
-
Sanbe A., Osinska H., Saffitz J.E., Glabe C.G., Kayed R., Maloyan A., Robbins J. Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:10132-10136.
-
(2004)
Proc. Natl. Acad. Sci. U.S.A.
, vol.101
, pp. 10132-10136
-
-
Sanbe, A.1
Osinska, H.2
Saffitz, J.E.3
Glabe, C.G.4
Kayed, R.5
Maloyan, A.6
Robbins, J.7
-
96
-
-
35348844114
-
Insights into function and regulation of small heat shock protein 25 (HSPB1) in a mouse model with targeted gene disruption
-
Huang L., Min J.N., Masters S., Mivechi N.F., Moskophidis D. Insights into function and regulation of small heat shock protein 25 (HSPB1) in a mouse model with targeted gene disruption. Genesis 2007, 45:487-501.
-
(2007)
Genesis
, vol.45
, pp. 487-501
-
-
Huang, L.1
Min, J.N.2
Masters, S.3
Mivechi, N.F.4
Moskophidis, D.5
-
97
-
-
84895370520
-
Pathogenic mechanisms of HSPB1 mutations associated with distal hereditary motor neuropathies
-
Krishnan J., D'YdewaJie C., Dierick I., lrobi J., van den Berghe P., Janssen P., Timmerman V., Robberecht W., van den Bosch L. Pathogenic mechanisms of HSPB1 mutations associated with distal hereditary motor neuropathies. 38th Annual Meeting of the Society for Neuroscience 2008.
-
(2008)
38th Annual Meeting of the Society for Neuroscience
-
-
Krishnan, J.1
D'YdewaJie, C.2
Dierick, I.3
lrobi, J.4
van den Berghe, P.5
Janssen, P.6
Timmerman, V.7
Robberecht, W.8
van den Bosch, L.9
-
98
-
-
84895379683
-
Beneficial and deleterious, the dual role of small stress proteins in human disease: implications for the therapeutic strategies
-
Nova Science Publishers, New York, S. Simon, A.-P. Arrigo (Eds.)
-
Simon S., Arrigo A.-P. Beneficial and deleterious, the dual role of small stress proteins in human disease: implications for the therapeutic strategies. Small Stress Proteins and Human Diseases 2012, 457-476. Nova Science Publishers, New York. S. Simon, A.-P. Arrigo (Eds.).
-
(2012)
Small Stress Proteins and Human Diseases
, pp. 457-476
-
-
Simon, S.1
Arrigo, A.-P.2
-
99
-
-
3042623796
-
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone
-
Liu X.L., Doné S.C., Yan K., Kilpeläinen P., Pikkarainen T., Tryggvason K. Defective trafficking of nephrin missense mutants rescued by a chemical chaperone. J. Am. Soc. Nephrol. 2004, 15:1731-1738.
-
(2004)
J. Am. Soc. Nephrol.
, vol.15
, pp. 1731-1738
-
-
Liu, X.L.1
Doné, S.C.2
Yan, K.3
Kilpeläinen, P.4
Pikkarainen, T.5
Tryggvason, K.6
-
100
-
-
0029120317
-
Effect of tauroursodeoxycholic and ursodeoxycholic acid on ethanol-induced cell injuries in the human Hep G2 cell line
-
Neuman M.G., Cameron R.G., Shear N.H., Bellentani S., Tiribelli C. Effect of tauroursodeoxycholic and ursodeoxycholic acid on ethanol-induced cell injuries in the human Hep G2 cell line. Gastroenterology 1995, 109:555-563.
-
(1995)
Gastroenterology
, vol.109
, pp. 555-563
-
-
Neuman, M.G.1
Cameron, R.G.2
Shear, N.H.3
Bellentani, S.4
Tiribelli, C.5
-
101
-
-
38849146956
-
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones
-
Wei H., Kim S.J., Zhang Z., Tsai P.C., Wisniewski K.E., Mukherjee A.B. ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum. Mol. Genet. 2008, 17:469-477.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 469-477
-
-
Wei, H.1
Kim, S.J.2
Zhang, Z.3
Tsai, P.C.4
Wisniewski, K.E.5
Mukherjee, A.B.6
-
102
-
-
33748744375
-
Green tea (-)-epigallocatechin-gallate modulates early events in huntingtin misfolding and reduces toxicity in Huntington's disease models
-
Ehrnhoefer D.E., Duennwald M., Markovic P., Wacker J.L., Engemann S., Roark M., Legleiter J., Marsh J.L., Thompson L.M., Lindquist S., Muchowski P.J., Wanker E.E. Green tea (-)-epigallocatechin-gallate modulates early events in huntingtin misfolding and reduces toxicity in Huntington's disease models. Hum. Mol. Genet. 2006, 15:2743-2751.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2743-2751
-
-
Ehrnhoefer, D.E.1
Duennwald, M.2
Markovic, P.3
Wacker, J.L.4
Engemann, S.5
Roark, M.6
Legleiter, J.7
Marsh, J.L.8
Thompson, L.M.9
Lindquist, S.10
Muchowski, P.J.11
Wanker, E.E.12
-
104
-
-
33846963818
-
Interruption of CryAB-amyloid oligomer formation by HSP22
-
Sanbe A., Yamauchi J., Miyamoto Y., Fujiwara Y., Murabe M., Tanoue A. Interruption of CryAB-amyloid oligomer formation by HSP22. J. Biol. Chem. 2007, 282:555-563.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 555-563
-
-
Sanbe, A.1
Yamauchi, J.2
Miyamoto, Y.3
Fujiwara, Y.4
Murabe, M.5
Tanoue, A.6
-
105
-
-
65449170415
-
Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy
-
Sanbe A., Daicho T., Mizutani R., Endo T., Miyauchi N., Yamauchi J., Tanonaka K., Glabe C., Tanoue A.A. Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy. PLoS ONE 2009, 4:e5351.
-
(2009)
PLoS ONE
, vol.4
, pp. e5351
-
-
Sanbe, A.1
Daicho, T.2
Mizutani, R.3
Endo, T.4
Miyauchi, N.5
Yamauchi, J.6
Tanonaka, K.7
Glabe, C.8
Tanoue, A.A.9
-
106
-
-
84882386037
-
Heat shock response activation exacerbates inclusion body formation in a cellular model of huntington disease
-
Bersuker K., Hipp M.S., Calamini B., Morimoto R.I., Kopito R.R. Heat shock response activation exacerbates inclusion body formation in a cellular model of huntington disease. J. Biol. Chem. 2013, 288:23633-23638.
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 23633-23638
-
-
Bersuker, K.1
Hipp, M.S.2
Calamini, B.3
Morimoto, R.I.4
Kopito, R.R.5
-
107
-
-
84875448098
-
Peptide aptamers: tools to negatively or positively modulate HSPB1(27) function
-
Gibert B., Simon S., Dimitrova V., Diaz-Latoud C., Arrigo A.-P. Peptide aptamers: tools to negatively or positively modulate HSPB1(27) function. Phil. Trans. R. Soc. Lond. B 2013, 368:20120075.
-
(2013)
Phil. Trans. R. Soc. Lond. B
, vol.368
, pp. 20120075
-
-
Gibert, B.1
Simon, S.2
Dimitrova, V.3
Diaz-Latoud, C.4
Arrigo, A.-P.5
|