-
1
-
-
0142185364
-
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy
-
Abu-Baker A., Messaed C., Laganiere J., et al. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Human Molecular Genetics 12 (2003) 2609-2623
-
(2003)
Human Molecular Genetics
, vol.12
, pp. 2609-2623
-
-
Abu-Baker, A.1
Messaed, C.2
Laganiere, J.3
-
2
-
-
0033819080
-
Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription
-
Adachi M., Browne D., and Lewis E.J. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription. DNA and Cell Biology 19 (2000) 539-554
-
(2000)
DNA and Cell Biology
, vol.19
, pp. 539-554
-
-
Adachi, M.1
Browne, D.2
Lewis, E.J.3
-
3
-
-
19544394236
-
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
-
Albrecht A.N., Kornak U., Boddrich A., et al. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 13 (2004) 2351-2359
-
(2004)
Human Molecular Genetics
, vol.13
, pp. 2351-2359
-
-
Albrecht, A.N.1
Kornak, U.2
Boddrich, A.3
-
4
-
-
0037379890
-
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
-
Amiel J., Laudier B., Attiè-Bitach T., et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics 33 (2003) 459-461
-
(2003)
Nature Genetics
, vol.33
, pp. 459-461
-
-
Amiel, J.1
Laudier, B.2
Attiè-Bitach, T.3
-
5
-
-
1842850631
-
Inhibition of insulin amyloid formation by small stress molecules
-
Arora A., Ha C., and Park C.B. Inhibition of insulin amyloid formation by small stress molecules. FEBS Letters 564 (2004) 121-125
-
(2004)
FEBS Letters
, vol.564
, pp. 121-125
-
-
Arora, A.1
Ha, C.2
Park, C.B.3
-
6
-
-
23944479944
-
An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene
-
Bachetti T., Borghini S., Ravazzolo R., et al. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. Gene Expression 12 (2005) 137-149
-
(2005)
Gene Expression
, vol.12
, pp. 137-149
-
-
Bachetti, T.1
Borghini, S.2
Ravazzolo, R.3
-
7
-
-
26044440585
-
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
-
Bachetti T., Matera I., Borghini S., et al. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Human Molecular Genetics 14 (2005) 1815-1824
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 1815-1824
-
-
Bachetti, T.1
Matera, I.2
Borghini, S.3
-
9
-
-
0034625366
-
Ubiquitination of neuronal nitrix-oxide synthase in vivo and in vitro
-
Bender A.T., Demady D.R., and Osawa Y. Ubiquitination of neuronal nitrix-oxide synthase in vivo and in vitro. Journal of Biological Chemistry 275 (2000) 17407-17411
-
(2000)
Journal of Biological Chemistry
, vol.275
, pp. 17407-17411
-
-
Bender, A.T.1
Demady, D.R.2
Osawa, Y.3
-
10
-
-
31544454404
-
Rapamycin alleviates toxicity of different aggregate-prone proteins
-
Berger Z., Ravikumar B., Menzies F.M., et al. Rapamycin alleviates toxicity of different aggregate-prone proteins. Human Molecular Genetics 15 (2006) 433-442
-
(2006)
Human Molecular Genetics
, vol.15
, pp. 433-442
-
-
Berger, Z.1
Ravikumar, B.2
Menzies, F.M.3
-
11
-
-
33645776725
-
The TLX-2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells
-
Borghini S., Bachetti T., Fava M., et al. The TLX-2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. Biochemical Journal 395 (2006) 355-361
-
(2006)
Biochemical Journal
, vol.395
, pp. 355-361
-
-
Borghini, S.1
Bachetti, T.2
Fava, M.3
-
12
-
-
0347418199
-
Alanine tracts: The expanding story of human illness and trinucleotide repeats
-
Brown L.Y., and Brown S.A. Alanine tracts: The expanding story of human illness and trinucleotide repeats. Trends in Genetics 20 (2004) 51-58
-
(2004)
Trends in Genetics
, vol.20
, pp. 51-58
-
-
Brown, L.Y.1
Brown, S.A.2
-
14
-
-
0141485327
-
Development of purine-scaffold small molecule inhibitors of Hsp90
-
Chiosis G., Lucas B., Huezo H., et al. Development of purine-scaffold small molecule inhibitors of Hsp90. Current Cancer Drug Targets 3 (2003) 371-376
-
(2003)
Current Cancer Drug Targets
, vol.3
, pp. 371-376
-
-
Chiosis, G.1
Lucas, B.2
Huezo, H.3
-
16
-
-
33646544400
-
-
Davies, J. E., Berger, Z., & Rubinsztein, D. C. (2006). Oculopharyngeal muscular dystrophy: Potential therapies for an aggregate-associated disorder. International Journal of Biochemistry and Cell Biology, February 28 [Epub ahead of print].
-
-
-
-
17
-
-
29644437591
-
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy
-
Davies J.E., Sarkar S., and Rubinsztein D.C. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Human Molecular Genetics 15 (2006) 23-31
-
(2006)
Human Molecular Genetics
, vol.15
, pp. 23-31
-
-
Davies, J.E.1
Sarkar, S.2
Rubinsztein, D.C.3
-
18
-
-
0035885066
-
Sp proteins and Phox2b regulate the expression of the human Phox2a gene
-
Flora A., Lucchetti H., Benfante R., et al. Sp proteins and Phox2b regulate the expression of the human Phox2a gene. Journal of Neuroscience 21 (2001) 7037-7045
-
(2001)
Journal of Neuroscience
, vol.21
, pp. 7037-7045
-
-
Flora, A.1
Lucchetti, H.2
Benfante, R.3
-
19
-
-
0344440698
-
Caspase 8 mediated apoptotic cell death induced by β-sheet forming polyalanine peptides
-
Giri K., Ghosh U., Bhattacharyya N.P., et al. Caspase 8 mediated apoptotic cell death induced by β-sheet forming polyalanine peptides. FEBS Letters 555 (2003) 380-384
-
(2003)
FEBS Letters
, vol.555
, pp. 380-384
-
-
Giri, K.1
Ghosh, U.2
Bhattacharyya, N.P.3
-
20
-
-
0037040541
-
Molecular chaperones in the cytosol: From nascent chain to folded protein
-
Hartl F.U., and Hayer-Hartl M. Molecular chaperones in the cytosol: From nascent chain to folded protein. Science 295 (2002) 1852-1858
-
(2002)
Science
, vol.295
, pp. 1852-1858
-
-
Hartl, F.U.1
Hayer-Hartl, M.2
-
21
-
-
3242695184
-
Progressive decrease in chaperone protein levels in a mouse model of Huntington's disease and induction of stress proteins as therapeutic approach
-
Hay D.G., Sathasivam K., Tobaben S., et al. Progressive decrease in chaperone protein levels in a mouse model of Huntington's disease and induction of stress proteins as therapeutic approach. Human Molecular Genetics 13 (2004) 1389-1405
-
(2004)
Human Molecular Genetics
, vol.13
, pp. 1389-1405
-
-
Hay, D.G.1
Sathasivam, K.2
Tobaben, S.3
-
22
-
-
26944439006
-
A phase II trial of 17-allylamino-17-demethoxygeldanamycin in patients with hormone-refractory metastatic prostate cancer
-
Heath E.I., Gaskins M., Pitot H.C., et al. A phase II trial of 17-allylamino-17-demethoxygeldanamycin in patients with hormone-refractory metastatic prostate cancer. Clinical Prostate Cancer 4 (2005) 138-141
-
(2005)
Clinical Prostate Cancer
, vol.4
, pp. 138-141
-
-
Heath, E.I.1
Gaskins, M.2
Pitot, H.C.3
-
23
-
-
0034641589
-
Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: Their role in suppression of aggregation and cellular toxicity
-
Jana N.R., Tanaka M., Wang G., et al. Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: Their role in suppression of aggregation and cellular toxicity. Human Molecular Genetics 12 (2000) 2009-2018
-
(2000)
Human Molecular Genetics
, vol.12
, pp. 2009-2018
-
-
Jana, N.R.1
Tanaka, M.2
Wang, G.3
-
25
-
-
33644677579
-
Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis
-
Kristiansen M., Messenger M.J., Klohn P.-C., et al. Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis. Journal of Biological Chemistry 280 (2005) 38851-38861
-
(2005)
Journal of Biological Chemistry
, vol.280
, pp. 38851-38861
-
-
Kristiansen, M.1
Messenger, M.J.2
Klohn, P.-C.3
-
26
-
-
33644831356
-
Polyglutamine and polyalanine expansions in ataxin 7 result in different types of aggregation and level toxicity
-
Latouche M., Fragner P., Martin E., et al. Polyglutamine and polyalanine expansions in ataxin 7 result in different types of aggregation and level toxicity. Molecular and Cellular Neuroscience 31 (2005) 438-445
-
(2005)
Molecular and Cellular Neuroscience
, vol.31
, pp. 438-445
-
-
Latouche, M.1
Fragner, P.2
Martin, E.3
-
27
-
-
10744223971
-
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
-
Lavoie H., Debeane F., Trinh Q.D., et al. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Human Molecular Genetics 12 (2003) 2967-2979
-
(2003)
Human Molecular Genetics
, vol.12
, pp. 2967-2979
-
-
Lavoie, H.1
Debeane, F.2
Trinh, Q.D.3
-
28
-
-
0141428795
-
Role of ubiquitin-mediated proteolysis in the pathogenesis of neurodegenerative disorders
-
Layfield R., Cavey J.R., and Lowe J. Role of ubiquitin-mediated proteolysis in the pathogenesis of neurodegenerative disorders. Ageing Research Review 2 (2003) 343-356
-
(2003)
Ageing Research Review
, vol.2
, pp. 343-356
-
-
Layfield, R.1
Cavey, J.R.2
Lowe, J.3
-
29
-
-
2342474459
-
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome
-
Matera I., Bachetti T., Puppo F., et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. Journal of Medical Genetics 41 (2004) 373-380
-
(2004)
Journal of Medical Genetics
, vol.41
, pp. 373-380
-
-
Matera, I.1
Bachetti, T.2
Puppo, F.3
-
30
-
-
0141891215
-
Pathogenesis of polyglutamine disorders: Aggregation revisited
-
Michalik A., and Van Broeckhoven C. Pathogenesis of polyglutamine disorders: Aggregation revisited. Human Molecular Genetics 12 (2003) R173-R186
-
(2003)
Human Molecular Genetics
, vol.12
-
-
Michalik, A.1
Van Broeckhoven, C.2
-
31
-
-
8444221584
-
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
-
Nasrallah I.M., Minarcik J.C., and Golden J.A. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. Journal of Cell Biology 167 (2004) 411-416
-
(2004)
Journal of Cell Biology
, vol.167
, pp. 411-416
-
-
Nasrallah, I.M.1
Minarcik, J.C.2
Golden, J.A.3
-
32
-
-
0036219609
-
Heat shock protein 90 inhibitors as novel cancer chemotherapeutic agents
-
Neckers L. Heat shock protein 90 inhibitors as novel cancer chemotherapeutic agents. Trends in Molecular Medicine 8 (2002) S55-S61
-
(2002)
Trends in Molecular Medicine
, vol.8
-
-
Neckers, L.1
-
33
-
-
0037030713
-
Hsp90 as a capacitor of phenotypic variation
-
Queitsch C., Sangster T.A., and Lindquist S. Hsp90 as a capacitor of phenotypic variation. Nature 417 (2002) 618-624
-
(2002)
Nature
, vol.417
, pp. 618-624
-
-
Queitsch, C.1
Sangster, T.A.2
Lindquist, S.3
-
34
-
-
0036566266
-
Aggregated-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
-
Ravikumar B., Duden R., and Rubinsztein D.C. Aggregated-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Human Molecular Genetics 11 (2002) 1107-1117
-
(2002)
Human Molecular Genetics
, vol.11
, pp. 1107-1117
-
-
Ravikumar, B.1
Duden, R.2
Rubinsztein, D.C.3
-
35
-
-
0032569851
-
Hsp90 as a capacitor for morphological evolution
-
Rutherford S.L., and Lindquist S. Hsp90 as a capacitor for morphological evolution. Nature 396 (1998) 336-342
-
(1998)
Nature
, vol.396
, pp. 336-342
-
-
Rutherford, S.L.1
Lindquist, S.2
-
36
-
-
10744219538
-
Molecular analysis of congenital central hypoventilation syndrome
-
Sasaki A., Kanai M., Kijima K., et al. Molecular analysis of congenital central hypoventilation syndrome. Human Genetics 114 (2003) 22-26
-
(2003)
Human Genetics
, vol.114
, pp. 22-26
-
-
Sasaki, A.1
Kanai, M.2
Kijima, K.3
-
37
-
-
0037012810
-
Expanded polyglutamine stretches form an "aggresome"
-
Shimohata T., Sato A., Burke J.R., et al. Expanded polyglutamine stretches form an "aggresome". Neuroscience Letters 323 (2002) 215-218
-
(2002)
Neuroscience Letters
, vol.323
, pp. 215-218
-
-
Shimohata, T.1
Sato, A.2
Burke, J.R.3
-
38
-
-
8344242220
-
Autophagy in health and disease: A double-edged sword
-
Shintani T., and Klionsky D. Autophagy in health and disease: A double-edged sword. Science 306 (2004) 990-995
-
(2004)
Science
, vol.306
, pp. 990-995
-
-
Shintani, T.1
Klionsky, D.2
-
39
-
-
0032475877
-
Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial?
-
Sisodia S.S. Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial?. Cell 95 (1998) 1-4
-
(1998)
Cell
, vol.95
, pp. 1-4
-
-
Sisodia, S.S.1
-
40
-
-
0035363805
-
Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease
-
Sittler A., Lurz R., Lueder G., et al. Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease. Human Molecular Genetics 12 (2001) 1307-1315
-
(2001)
Human Molecular Genetics
, vol.12
, pp. 1307-1315
-
-
Sittler, A.1
Lurz, R.2
Lueder, G.3
-
41
-
-
13844253252
-
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
-
Trochet D., O'Brien L.M., Gozal D., et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. American Journal of Human Genetics 76 (2005) 421-426
-
(2005)
American Journal of Human Genetics
, vol.76
, pp. 421-426
-
-
Trochet, D.1
O'Brien, L.M.2
Gozal, D.3
-
42
-
-
28744432065
-
Molecular consequences of PHOX2B missense frameshift and alanine expansion mutations leading to autonomic dysfunction
-
Trochet D., Hong S.J., Lim J.K., et al. Molecular consequences of PHOX2B missense frameshift and alanine expansion mutations leading to autonomic dysfunction. Human Molecular Genetics 14 (2005) 3697-3708
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 3697-3708
-
-
Trochet, D.1
Hong, S.J.2
Lim, J.K.3
-
43
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier Y., Lutz Y., Stevanin G., et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378 (1995) 403-406
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
-
44
-
-
0036461583
-
Effect of geldanamycin on androgen receptor function and stability
-
Vanaja D.K., Mitchell S.H., Toft D.O., et al. Effect of geldanamycin on androgen receptor function and stability. Cell Stress and Chaperones 7 (2002) 55-64
-
(2002)
Cell Stress and Chaperones
, vol.7
, pp. 55-64
-
-
Vanaja, D.K.1
Mitchell, S.H.2
Toft, D.O.3
-
45
-
-
28744444484
-
Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells
-
Wang Q., Mosser D.D., and Bag J. Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells. Human Molecular Genetics 14 (2005) 3673-3684
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 3673-3684
-
-
Wang, Q.1
Mosser, D.D.2
Bag, J.3
-
46
-
-
27144503120
-
17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine mediated motor neuron degeneration
-
Waza M., Adachi H., Katsuno M., et al. 17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine mediated motor neuron degeneration. Nature Medicine 11 (2005) 1088-1095
-
(2005)
Nature Medicine
, vol.11
, pp. 1088-1095
-
-
Waza, M.1
Adachi, H.2
Katsuno, M.3
-
47
-
-
33746724745
-
Modulation of Hsp90 function in neurodegenerative disorders: A molecular-targeted therapy against disease-causing protein
-
Waza M., Adachi H., Katsuno M., et al. Modulation of Hsp90 function in neurodegenerative disorders: A molecular-targeted therapy against disease-causing protein. Journal of Molecular Medicine 84 (2006) 635-646
-
(2006)
Journal of Molecular Medicine
, vol.84
, pp. 635-646
-
-
Waza, M.1
Adachi, H.2
Katsuno, M.3
-
49
-
-
0344033754
-
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in Phox2b
-
Weese-Mayer D.E., Berry-Kravis E.M., Zhou L., et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in Phox2b. American Journal of Medical Genetics 123 (2003) 267-278
-
(2003)
American Journal of Medical Genetics
, vol.123
, pp. 267-278
-
-
Weese-Mayer, D.E.1
Berry-Kravis, E.M.2
Zhou, L.3
|