-
1
-
-
44249085878
-
Safety and efficacy of gene transfer for Leber's congenital amaurosis
-
Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358:2240-2248.
-
(2008)
N Engl J Med
, vol.358
, pp. 2240-2248
-
-
Maguire, A.M.1
Simonelli, F.2
Pierce, E.A.3
-
2
-
-
44249120315
-
Effect of gene therapy on visual function in Leber's congenital amaurosis
-
Bainbridge JW, Smith AJ, Barker SS, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008;358:2231-2239.
-
(2008)
N Engl J Med
, vol.358
, pp. 2231-2239
-
-
Bainbridge, J.W.1
Smith, A.J.2
Barker, S.S.3
-
3
-
-
54949104686
-
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: Short-term results of a phase I trial
-
Hauswirth WW, Aleman TS, Kaushal S, et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther. 2008;19:979-990.
-
(2008)
Hum Gene Ther
, vol.19
, pp. 979-990
-
-
Hauswirth, W.W.1
Aleman, T.S.2
Kaushal, S.3
-
4
-
-
33846145693
-
Tool from ancient pharmacopoeia prevents vision loss
-
Boatright JH, Moring AG, McElroy C, et al. Tool from ancient pharmacopoeia prevents vision loss. Mol Vis. 2006;12:1706-1714.
-
(2006)
Mol Vis
, vol.12
, pp. 1706-1714
-
-
Boatright, J.H.1
Moring, A.G.2
McElroy, C.3
-
6
-
-
44649159782
-
Tauroursodeoxycholic acid preservation of photoreceptor structure and function in the rd10 mouse through postnatal day 30
-
Phillips MJ, Walker TA, Choi HY, et al. Tauroursodeoxycholic acid preservation of photoreceptor structure and function in the rd10 mouse through postnatal day 30. Invest Ophthalmol Vis Sci. 2008; 49:2148-2155.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 2148-2155
-
-
Phillips, M.J.1
Walker, T.A.2
Choi, H.Y.3
-
7
-
-
39149099114
-
Bile acids and apoptosis modulation: An emerging role in experimental Alzheimer's disease
-
Ramalho RM, Viana RJ, Low WC, Steer CJ, Rodrigues CM. Bile acids and apoptosis modulation: an emerging role in experimental Alzheimer's disease. Trends Mol Med. 2008;14:54-62.
-
(2008)
Trends Mol Med
, vol.14
, pp. 54-62
-
-
Ramalho, R.M.1
Viana, R.J.2
Low, W.C.3
Steer, C.J.4
Rodrigues, C.M.5
-
8
-
-
33746862168
-
Tauroursodeoxycholic acid modulates p53-mediated apoptosis in Alzheimer's disease mutant neuroblastoma cells
-
Ramalho RM, Borralho PM, Castro RE, Sola S, Steer CJ, Rodrigues CM. Tauroursodeoxycholic acid modulates p53-mediated apoptosis in Alzheimer's disease mutant neuroblastoma cells. J Neurochem. 2006;98:1610-1618.
-
(2006)
J Neurochem
, vol.98
, pp. 1610-1618
-
-
Ramalho, R.M.1
Borralho, P.M.2
Castro, R.E.3
Sola, S.4
Steer, C.J.5
Rodrigues, C.M.6
-
9
-
-
0036677435
-
Tauroursodeoxycholic acid, a bile acid, is neuroprotective in a transgenic animal model of Huntington's disease
-
Keene CD, Rodrigues CM, Eich T, Chhabra MS, Steer CJ, Low WC. Tauroursodeoxycholic acid, a bile acid, is neuroprotective in a transgenic animal model of Huntington's disease. Proc Natl Acad Sci U S A. 2002;99:10671-10676.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 10671-10676
-
-
Keene, C.D.1
Rodrigues, C.M.2
Eich, T.3
Chhabra, M.S.4
Steer, C.J.5
Low, W.C.6
-
10
-
-
0034799214
-
A bile acid protects against motor and cognitive deficits and reduces striatal degeneration in the 3-nitropropionic acid model of Huntington's disease
-
Keene CD, Rodrigues CM, Eich T, et al. A bile acid protects against motor and cognitive deficits and reduces striatal degeneration in the 3-nitropropionic acid model of Huntington's disease. Exp Neurol. 2001;171:351-360.
-
(2001)
Exp Neurol
, vol.171
, pp. 351-360
-
-
Keene, C.D.1
Rodrigues, C.M.2
Eich, T.3
-
11
-
-
79960064834
-
Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats
-
Fernandez-Sanchez L, Lax P, Pinilla I, Martin-Nieto J, Cuenca N. Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. Invest Ophthalmol Vis Sci. 2011;52:4998-5008.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 4998-5008
-
-
Fernandez-Sanchez, L.1
Lax, P.2
Pinilla, I.3
Martin-Nieto, J.4
Cuenca, N.5
-
12
-
-
37649020306
-
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
-
Davis RE, Swiderski RE, Rahmouni K, et al. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci USA. 2007;104:19422-19427.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 19422-19427
-
-
Davis, R.E.1
Swiderski, R.E.2
Rahmouni, K.3
-
13
-
-
0029330538
-
On congenital obesity syndrome with polydactyly and retinitis-pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). (Reprinted from a Thesis, Faculte De Medecine De Paris. 1920)
-
Bardet G. On congenital obesity syndrome with polydactyly and retinitis-pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). (Reprinted from a Thesis, Faculte De Medecine De Paris. 1920). Obes Res. 1995;3:387-399.
-
(1995)
Obes Res
, vol.3
, pp. 387-399
-
-
Bardet, G.1
-
14
-
-
0029331385
-
A pair of siblings with adiposo-genital dystrophy (reprinted 1922)
-
Biedl A. A pair of siblings with adiposo-genital dystrophy (reprinted 1922). Obes Res. 1995;3:404-404.
-
(1995)
Obes Res
, vol.3
, pp. 404
-
-
Biedl, A.1
-
15
-
-
34250012834
-
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
-
Nachury MV, Loktev AV, Zhang Q, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129:1201-1213.
-
(2007)
Cell
, vol.129
, pp. 1201-1213
-
-
Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
-
16
-
-
57049171416
-
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation
-
Loktev AV, Zhang Q, Beck JS, et al. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell. 2008; 15:854-865.
-
(2008)
Dev Cell
, vol.15
, pp. 854-865
-
-
Loktev, A.V.1
Zhang, Q.2
Beck, J.S.3
-
17
-
-
76549121983
-
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
-
Seo S, Baye LM, Schulz NP, et al. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A. 2010;107:1488-1493.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 1488-1493
-
-
Seo, S.1
Baye, L.M.2
Schulz, N.P.3
-
18
-
-
79551718744
-
The blind leading the obese: The molecular pathophysiology of a human obesity syndrome
-
discussion 181
-
Sheffield VC. The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. Trans Am Clin Climatol Assoc. 121:172-181; discussion 181.
-
Trans Am Clin Climatol Assoc
, vol.121
, pp. 172-181
-
-
Sheffield, V.C.1
-
19
-
-
63149175815
-
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
-
Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC. Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet. 2009;18:1323-1331.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1323-1331
-
-
Seo, S.1
Guo, D.F.2
Bugge, K.3
Morgan, D.A.4
Rahmouni, K.5
Sheffield, V.C.6
-
20
-
-
33846126652
-
Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene
-
Chang B, Hawes NL, Pardue MT, et al. Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res. 2007;47:624-633.
-
(2007)
Vision Res
, vol.47
, pp. 624-633
-
-
Chang, B.1
Hawes, N.L.2
Pardue, M.T.3
-
21
-
-
33744757686
-
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
-
Chang B, Khanna H, Hawes N, et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006;15:1847-1857.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
-
22
-
-
0021229535
-
Application of acrylamide as an embedding medium in studies of lectin and antibody binding in the vertebrate retina
-
Johnson LV, Blanks JC. Application of acrylamide as an embedding medium in studies of lectin and antibody binding in the vertebrate retina. Curr Eye Res. 1984;3:969-974.
-
(1984)
Curr Eye Res
, vol.3
, pp. 969-974
-
-
Johnson, L.V.1
Blanks, J.C.2
-
23
-
-
3042698849
-
Tauroursodeoxycholic acid prevents amyloid-beta peptide-induced neuronal death via a phosphatidylinositol 3-kinase-dependent signaling pathway
-
Sola S, Castro RE, Laires PA, Steer CJ, Rodrigues CM. Tauroursodeoxycholic acid prevents amyloid-beta peptide-induced neuronal death via a phosphatidylinositol 3-kinase-dependent signaling pathway. Mol Med. 2003;9:226-234.
-
(2003)
Mol Med
, vol.9
, pp. 226-234
-
-
Sola, S.1
Castro, R.E.2
Laires, P.A.3
Steer, C.J.4
Rodrigues, C.M.5
-
24
-
-
3342885971
-
Inhibition of the E2F-1/p53/Bax pathway by tauroursodeoxycholic acid in amyloid beta-peptide-induced apoptosis of PC12 cells
-
Ramalho RM, Ribeiro PS, Sola S, Castro RE, Steer CJ, Rodrigues CM. Inhibition of the E2F-1/p53/Bax pathway by tauroursodeoxycholic acid in amyloid beta-peptide-induced apoptosis of PC12 cells. J Neurochem. 2004;90:567-575.
-
(2004)
J Neurochem
, vol.90
, pp. 567-575
-
-
Ramalho, R.M.1
Ribeiro, P.S.2
Sola, S.3
Castro, R.E.4
Steer, C.J.5
Rodrigues, C.M.6
-
25
-
-
57849115277
-
Endoplasmic reticulum stress plays a central role in development of leptin resistance
-
Ozcan L, Ergin AS, Lu A, et al. Endoplasmic reticulum stress plays a central role in development of leptin resistance. Cell Metab. 2009;9:35-51.
-
(2009)
Cell Metab
, vol.9
, pp. 35-51
-
-
Ozcan, L.1
Ergin, A.S.2
Lu, A.3
-
26
-
-
34247181117
-
Game and players: Mitochondrial apoptosis and the therapeutic potential of ursodeoxycholic acid
-
Sola S, Aranha MM, Steer CJ, Rodrigues CM. Game and players: mitochondrial apoptosis and the therapeutic potential of ursodeoxycholic acid. Curr Issues Mol Biol. 2007;9:123-138.
-
(2007)
Curr Issues Mol Biol
, vol.9
, pp. 123-138
-
-
Sola, S.1
Aranha, M.M.2
Steer, C.J.3
Rodrigues, C.M.4
-
27
-
-
33748069813
-
Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes
-
Ozcan U, Yilmaz E, Ozcan L, et al. Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes. Science. 2006;313:1137-1140.
-
(2006)
Science
, vol.313
, pp. 1137-1140
-
-
Ozcan, U.1
Yilmaz, E.2
Ozcan, L.3
-
28
-
-
61949416918
-
Medical treatment of primary sclerosing cholangitis: A role for novel bile acids and other (post-)transcriptional modulators?
-
Beuers U, Kullak-Ublick GA, Pusl T, Rauws ER, Rust C. Medical treatment of primary sclerosing cholangitis: a role for novel bile acids and other (post-)transcriptional modulators? Clin Rev Allergy Immunol. 2009;36:52-61.
-
(2009)
Clin Rev Allergy Immunol
, vol.36
, pp. 52-61
-
-
Beuers, U.1
Kullak-Ublick, G.A.2
Pusl, T.3
Rauws, E.R.4
Rust, C.5
-
29
-
-
1542467261
-
Ursodeoxycholic acid modulates E2F-1 and p53 expression through a caspase-independent mechanism in transforming growth factor beta1-induced apoptosis of rat hepatocytes
-
Sola S, Ma X, Castro RE, Kren BT, Steer CJ, Rodrigues CM. Ursodeoxycholic acid modulates E2F-1 and p53 expression through a caspase-independent mechanism in transforming growth factor beta1-induced apoptosis of rat hepatocytes. J Biol Chem. 2003; 278:48831-48838.
-
(2003)
J Biol Chem
, vol.278
, pp. 48831-48838
-
-
Sola, S.1
Ma, X.2
Castro, R.E.3
Kren, B.T.4
Steer, C.J.5
Rodrigues, C.M.6
-
30
-
-
80052689739
-
Cholesterolderived bile acids enhance the chaperone activity of α-crystallins
-
Song S, Liang JJ, Mulhern ML, Madson CJ, Shinohara T. Cholesterolderived bile acids enhance the chaperone activity of α-crystallins. Cell Stress Chaperones. 2011;16:475-480.
-
(2011)
Cell Stress Chaperones
, vol.16
, pp. 475-480
-
-
Song, S.1
Liang, J.J.2
Mulhern, M.L.3
Madson, C.J.4
Shinohara, T.5
-
31
-
-
0036203113
-
Neuroprotection by a bile acid in an acute stroke model in the rat
-
Rodrigues CM, Spellman SR, Sola S, et al. Neuroprotection by a bile acid in an acute stroke model in the rat. J Cereb Blood Flow Metab. 2002;22:463-471.
-
(2002)
J Cereb Blood Flow Metab
, vol.22
, pp. 463-471
-
-
Rodrigues, C.M.1
Spellman, S.R.2
Sola, S.3
-
32
-
-
0036695454
-
Tauroursodeoxycholic acid (TUDCA) in the prevention of total parenteral nutrition- associated liver disease
-
Heubi JE, Wiechmann DA, Creutzinger V, et al. Tauroursodeoxycholic acid (TUDCA) in the prevention of total parenteral nutrition- associated liver disease. J Pediatr. 2002;141:237-242.
-
(2002)
J Pediatr
, vol.141
, pp. 237-242
-
-
Heubi, J.E.1
Wiechmann, D.A.2
Creutzinger, V.3
-
33
-
-
56549107424
-
Ursodeoxycholic acid in the prevention of gallstone formation after bariatric surgery: A meta-analysis
-
Uy MC, Talingdan-Te MC, Espinosa WZ, Daez ML, Ong JP. Ursodeoxycholic acid in the prevention of gallstone formation after bariatric surgery: a meta-analysis. Obes Surg. 2008;18:1532-1538.
-
(2008)
Obes Surg
, vol.18
, pp. 1532-1538
-
-
Uy, M.C.1
Talingdan-Te, M.C.2
Espinosa, W.Z.3
Daez, M.L.4
Ong, J.P.5
-
34
-
-
0034049790
-
Lack of efficacy of ursodeoxycholic acid for the treatment of liver abnormalities in obese children
-
Vajro P, Franzese A, Valerio G, Iannucci MP, Aragione N. Lack of efficacy of ursodeoxycholic acid for the treatment of liver abnormalities in obese children. J Pediatr. 2000;136:739-743.
-
(2000)
J Pediatr
, vol.136
, pp. 739-743
-
-
Vajro, P.1
Franzese, A.2
Valerio, G.3
Iannucci, M.P.4
Aragione, N.5
-
35
-
-
77955411159
-
Tauroursodeoxycholic acid may improve liver and muscle but not adipose tissue insulin sensitivity in obese men and women
-
Kars M, Yang L, Gregor MF, et al. Tauroursodeoxycholic acid may improve liver and muscle but not adipose tissue insulin sensitivity in obese men and women. Diabetes. 201059:1899-1905.
-
(2010)
Diabetes
, vol.59
, pp. 1899-1905
-
-
Kars, M.1
Yang, L.2
Gregor, M.F.3
-
36
-
-
0029979135
-
Chronic administration of ursodeoxycholic and tauroursodeoxycholic acid changes microsomal membrane lipid content and fatty acid compositions in rats
-
Bellentani S, Chao YC, Ferretti I, Panini R, Tiribelli C. Chronic administration of ursodeoxycholic and tauroursodeoxycholic acid changes microsomal membrane lipid content and fatty acid compositions in rats. Biochem Biophys Res Commun. 1996;220:479-483.
-
(1996)
Biochem Biophys Res Commun
, vol.220
, pp. 479-483
-
-
Bellentani, S.1
Chao, Y.C.2
Ferretti, I.3
Panini, R.4
Tiribelli, C.5
-
37
-
-
80053439343
-
Dose-response of five bile acids on serum and liver bile acid concentrations and hepatotoxicity in mice
-
Song P, Zhang Y, Klaassen CD. Dose-response of five bile acids on serum and liver bile acid concentrations and hepatotoxicity in mice. Toxicol Sci. 2011;123:359-367.
-
(2011)
Toxicol Sci
, vol.123
, pp. 359-367
-
-
Song, P.1
Zhang, Y.2
Klaassen, C.D.3
-
38
-
-
60849124804
-
Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity
-
Jammoul F, Wang Q, Nabbout R, et al. Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity. Ann Neurol. 2009;65: 98-107.
-
(2009)
Ann Neurol
, vol.65
, pp. 98-107
-
-
Jammoul, F.1
Wang, Q.2
Nabbout, R.3
-
39
-
-
0029563501
-
Lesion topography and new histological features in feline taurine deficiency retinopathy
-
Leon A, Levick WR, Sarossy MG. Lesion topography and new histological features in feline taurine deficiency retinopathy. Exp Eye Res. 1995;61:731-741.
-
(1995)
Exp Eye Res
, vol.61
, pp. 731-741
-
-
Leon, A.1
Levick, W.R.2
Sarossy, M.G.3
|