-
1
-
-
0032238826
-
Adrenocorticotropin insensitivity syndromes
-
Clark AJ, Weber A 1998 Adrenocorticotropin insensitivity syndromes. Endocr Rev 19:828-843
-
(1998)
Endocr Rev
, vol.19
, pp. 828-843
-
-
Clark, A.J.1
Weber, A.2
-
2
-
-
0042131835
-
Triple A syndrome: Genotype-phenotype assessment
-
Prpic I, Huebner A, Persic M, Handschug K, Pavletic M 2003 Triple A syndrome: genotype-phenotype assessment. Clin Genet 63:415-417
-
(2003)
Clin Genet
, vol.63
, pp. 415-417
-
-
Prpic, I.1
Huebner, A.2
Persic, M.3
Handschug, K.4
Pavletic, M.5
-
3
-
-
0027324668
-
Neurological and adrenal dysfunction in the adrenal insufficiency/ alacrima/achalasia (3A) syndrome
-
Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JH, Werder E 1993 Neurological and adrenal dysfunction in the adrenal insufficiency/ alacrima/achalasia (3A) syndrome. Arch Dis Child 68:779-782
-
(1993)
Arch Dis Child
, vol.68
, pp. 779-782
-
-
Grant, D.B.1
Barnes, N.D.2
Dumic, M.3
Ginalska-Malinowska, M.4
Milla, P.J.5
von Petrykowski, W.6
Rowlatt, R.J.7
Steendijk, R.8
Wales, J.H.9
Werder, E.10
-
5
-
-
0033763096
-
Mutant WD-repeat protein in triple-A syndrome
-
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S 2000 Mutant WD-repeat protein in triple-A syndrome. Nat Genet 26:332-335
-
(2000)
Nat Genet
, vol.26
, pp. 332-335
-
-
Tullio-Pelet, A.1
Salomon, R.2
Hadj-Rabia, S.3
Mugnier, C.4
de Laet, M.H.5
Chaouachi, B.6
Bakiri, F.7
Brottier, P.8
Cattolico, L.9
Penet, C.10
Bégeot, M.11
Naville, D.12
Nicolino, M.13
Chaussain, J.L.14
Weissenbach, J.15
Munnich, A.16
Lyonnet, S.17
-
6
-
-
0035253397
-
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
-
Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A 2001 Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283-290
-
(2001)
Hum Mol Genet
, vol.10
, pp. 283-290
-
-
Handschug, K.1
Sperling, S.2
Yoon, S.J.3
Hennig, S.4
Clark, A.J.5
Huebner, A.6
-
7
-
-
0036932863
-
New insights into the molecular basis of the triple A syndrome
-
Huebner A, Kaindl AM, Braun R, Handschug K 2002 New insights into the molecular basis of the triple A syndrome. Endocr Res 28: 733-739
-
(2002)
Endocr Res
, vol.28
, pp. 733-739
-
-
Huebner, A.1
Kaindl, A.M.2
Braun, R.3
Handschug, K.4
-
9
-
-
12844268119
-
Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation
-
Storr HL, Clark AJ, Priestley JV, Michael GJ 2005 Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. Neuroscience 131:113-123
-
(2005)
Neuroscience
, vol.131
, pp. 113-123
-
-
Storr, H.L.1
Clark, A.J.2
Priestley, J.V.3
Michael, G.J.4
-
10
-
-
0035834037
-
Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane
-
Dreger M, Bengtsson L, Schöneberg T, Otto H, Hucho F 2001 Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc Natl Acad Sci USA 98:11943-19948
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 11943-19948
-
-
Dreger, M.1
Bengtsson, L.2
Schöneberg, T.3
Otto, H.4
Hucho, F.5
-
11
-
-
0037008997
-
Proteomic analysis of the mammalian nuclear pore complex
-
Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ 2002 Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 158:915-927
-
(2002)
J Cell Biol
, vol.158
, pp. 915-927
-
-
Cronshaw, J.M.1
Krutchinsky, A.N.2
Zhang, W.3
Chait, B.T.4
Matunis, M.J.5
-
12
-
-
0037947770
-
The nuclear pore complex ALADIN is mislocalized in triple A syndrome
-
Cronshaw JM, Matunis MJ 2003 The nuclear pore complex ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA 100:5823-5827
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 5823-5827
-
-
Cronshaw, J.M.1
Matunis, M.J.2
-
13
-
-
33745368247
-
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome: Shedding light on an unexpected splice mutation
-
Krumbholz M, Koehler K, Huebner A 2006 Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome: shedding light on an unexpected splice mutation. Biochem Cell Biol 84:243-249
-
(2006)
Biochem Cell Biol
, vol.84
, pp. 243-249
-
-
Krumbholz, M.1
Koehler, K.2
Huebner, A.3
-
14
-
-
21244478918
-
Multiphoton-FLIM quantification of the EGFP-mRFP1 FRET pair for localization of membrane-receptor-kinase interactions
-
Peter M, Ameer-Beg SM, Hughes MK, Keppler MD, Prag S, Marsh M, Vojnovic B, Ng T 2005 Multiphoton-FLIM quantification of the EGFP-mRFP1 FRET pair for localization of membrane-receptor-kinase interactions. Biophys J 88:1224-1237
-
(2005)
Biophys J
, vol.88
, pp. 1224-1237
-
-
Peter, M.1
Ameer-Beg, S.M.2
Hughes, M.K.3
Keppler, M.D.4
Prag, S.5
Marsh, M.6
Vojnovic, B.7
Ng, T.8
-
15
-
-
0742270983
-
FRET between cardiac Na+ channel subunits measured wit a confocal microscope and a streak camera
-
Biskup C, Zimmer T, Benndorf K 2004 FRET between cardiac Na+ channel subunits measured wit a confocal microscope and a streak camera. Nat Biotechnol 22:220-224
-
(2004)
Nat Biotechnol
, vol.22
, pp. 220-224
-
-
Biskup, C.1
Zimmer, T.2
Benndorf, K.3
-
16
-
-
52949107958
-
Structure, dynamics and function of nuclear pore complexes
-
D'Angelo MA, Hetzer MW 2008 Structure, dynamics and function of nuclear pore complexes. Trends Cell Biol 18:456-466
-
(2008)
Trends Cell Biol
, vol.18
, pp. 456-466
-
-
D'Angelo, M.A.1
Hetzer, M.W.2
-
17
-
-
0032509239
-
Importance of poly(ADP-ribose) polymerase and its cleavage in apoptosis. Lesson from an uncleavable mutant
-
Oliver FJ, de la Rubia G, Rolli V, Ruiz-Ruiz MC, de Murcia G, Murcia JM 1998 Importance of poly(ADP-ribose) polymerase and its cleavage in apoptosis. Lesson from an uncleavable mutant. J Biol Chem 273:33533-33539
-
(1998)
J Biol Chem
, vol.273
, pp. 33533-33539
-
-
Oliver, F.J.1
de la Rubia, G.2
Rolli, V.3
Ruiz-Ruiz, M.C.4
de Murcia, G.5
Murcia, J.M.6
-
18
-
-
0029068871
-
-
Nicholson DW, Ali A, Thornberry NA, Vaillancourt JP, Ding CK, Gallant M, Gareau Y, Griffin PR, Labelle M, Lazebnik YA, Munday NA, Raju SM, Smulson ME, Violeta TT Yamin, Yu VL, Miller DK 1995 Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis. Nature 376:37-43
-
Nicholson DW, Ali A, Thornberry NA, Vaillancourt JP, Ding CK, Gallant M, Gareau Y, Griffin PR, Labelle M, Lazebnik YA, Munday NA, Raju SM, Smulson ME, Violeta TT Yamin, Yu VL, Miller DK 1995 Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis. Nature 376:37-43
-
-
-
-
19
-
-
0034935874
-
Nuclear translocation of ferritin in corneal epithelial cells
-
Cai CX, Linsenmayer TF 2001 Nuclear translocation of ferritin in corneal epithelial cells. J Cell Sci 114:2327-2334
-
(2001)
J Cell Sci
, vol.114
, pp. 2327-2334
-
-
Cai, C.X.1
Linsenmayer, T.F.2
-
20
-
-
0031670727
-
Nuclear ferritin protects DNA from UV damage in corneal epithelial cells
-
Cai CX, Birk DE, Linsenmayer TF 1998 Nuclear ferritin protects DNA from UV damage in corneal epithelial cells. Mol Biol Cell 9:1037-1051
-
(1998)
Mol Biol Cell
, vol.9
, pp. 1037-1051
-
-
Cai, C.X.1
Birk, D.E.2
Linsenmayer, T.F.3
-
21
-
-
10944248015
-
Nuclear ferritin in corneal epithelial cells:tissue-specific nuclear transport and protection from UV-damage
-
Linsenmayer TF, Cai CX, Millholland JM, Beazley KE, Fitch JM 2005 Nuclear ferritin in corneal epithelial cells:tissue-specific nuclear transport and protection from UV-damage. Prog Retin Eye Res 24:139-159
-
(2005)
Prog Retin Eye Res
, vol.24
, pp. 139-159
-
-
Linsenmayer, T.F.1
Cai, C.X.2
Millholland, J.M.3
Beazley, K.E.4
Fitch, J.M.5
-
22
-
-
0037592138
-
Ferritoid, a tissue-specific nuclear transport protein for ferritin in corneal epithelial cells
-
Millholland JM, Fitch JM, Cai CX, Gibney EP, Beazley KE, Linsenmayer TF 2003 Ferritoid, a tissue-specific nuclear transport protein for ferritin in corneal epithelial cells. J Biol Chem 278:23963-23970
-
(2003)
J Biol Chem
, vol.278
, pp. 23963-23970
-
-
Millholland, J.M.1
Fitch, J.M.2
Cai, C.X.3
Gibney, E.P.4
Beazley, K.E.5
Linsenmayer, T.F.6
-
23
-
-
21744461905
-
Characterisation of nuclear ferritin and mechanism of nuclear import
-
Surguladze N, Patton S, Cozzi A, Fried MG, Connor JR 2005 Characterisation of nuclear ferritin and mechanism of nuclear import. Biochem J 388:731-740
-
(2005)
Biochem J
, vol.388
, pp. 731-740
-
-
Surguladze, N.1
Patton, S.2
Cozzi, A.3
Fried, M.G.4
Connor, J.R.5
-
24
-
-
0037092516
-
Regulation, mechanisms and proposed function of ferritin translocation to cell nuclei
-
Thompson K, Fried M, Ye Z, Boyer P, Connor J 2002 Regulation, mechanisms and proposed function of ferritin translocation to cell nuclei. J Cell Sci 115(Pt 10):2165-2177
-
(2002)
J Cell Sci
, vol.115
, Issue.PART 10
, pp. 2165-2177
-
-
Thompson, K.1
Fried, M.2
Ye, Z.3
Boyer, P.4
Connor, J.5
-
25
-
-
0037216723
-
Mouse brains deficient in H-ferritin have normal iron concentration but a protein profile of iron deficiency and increased evidence of oxidative stress
-
Thompson K, Menzies S, Muckenthaler M, Torti FM, Wood T, Torti SV, Hentze MW, Beard J, Connor J 2003 Mouse brains deficient in H-ferritin have normal iron concentration but a protein profile of iron deficiency and increased evidence of oxidative stress. J Neurosci Res 71:46-63
-
(2003)
J Neurosci Res
, vol.71
, pp. 46-63
-
-
Thompson, K.1
Menzies, S.2
Muckenthaler, M.3
Torti, F.M.4
Wood, T.5
Torti, S.V.6
Hentze, M.W.7
Beard, J.8
Connor, J.9
-
26
-
-
33644793371
-
Adreno-leukodystrophy: Oxidative stress of mice and men
-
Powers JM, Pei Z, Heinzer AK, Deering R, Moser AB, Moser HW, Watkins PA, Smith KD 2005 Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol 64:1067-1079
-
(2005)
J Neuropathol Exp Neurol
, vol.64
, pp. 1067-1079
-
-
Powers, J.M.1
Pei, Z.2
Heinzer, A.K.3
Deering, R.4
Moser, A.B.5
Moser, H.W.6
Watkins, P.A.7
Smith, K.D.8
-
27
-
-
33644555819
-
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome
-
Huebner A, Mann P, Rohde E, Kaindl AM, Witt M, Verkade P, Jakubiczka S, Menschikowski M, Stoltenburg-Didinger G, Koehler K 2006 Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol 26:1879-1887
-
(2006)
Mol Cell Biol
, vol.26
, pp. 1879-1887
-
-
Huebner, A.1
Mann, P.2
Rohde, E.3
Kaindl, A.M.4
Witt, M.5
Verkade, P.6
Jakubiczka, S.7
Menschikowski, M.8
Stoltenburg-Didinger, G.9
Koehler, K.10
-
28
-
-
0038412586
-
Chromosomal fragility in patients with triple A syndrome
-
Reshmi-Skarja S, Huebner A, Handschug K, Finegold DN, Clark AJ, Gollin SM 2003 Chromosomal fragility in patients with triple A syndrome. Am J Med Genet A 117A:30-36
-
(2003)
Am J Med Genet A
, vol.117 A
, pp. 30-36
-
-
Reshmi-Skarja, S.1
Huebner, A.2
Handschug, K.3
Finegold, D.N.4
Clark, A.J.5
Gollin, S.M.6
-
29
-
-
33144483974
-
I482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress on triple A syndrome
-
I482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress on triple A syndrome. Proc Natl Acad Sci USA 103:2298-2303
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 2298-2303
-
-
Hirano, M.1
Furiya, Y.2
Asai, H.3
Yasui, A.4
Ueno, S.5
-
30
-
-
49449114797
-
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress
-
Kiriyama T, Hirano M, Asai H, Ikeda M, Furiya Y, Ueno S 2008 Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress. Biochem Biophys Res Commun 374:631-634
-
(2008)
Biochem Biophys Res Commun
, vol.374
, pp. 631-634
-
-
Kiriyama, T.1
Hirano, M.2
Asai, H.3
Ikeda, M.4
Furiya, Y.5
Ueno, S.6
-
31
-
-
0037177071
-
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation
-
Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D 2002 Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology 58:962-965
-
(2002)
Neurology
, vol.58
, pp. 962-965
-
-
Goizet, C.1
Catargi, B.2
Tison, F.3
Tullio-Pelet, A.4
Hadj-Rabia, S.5
Pujol, F.6
Lagueny, A.7
Lyonnet, S.8
Lacombe, D.9
-
32
-
-
0027401203
-
-
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-YasekD, Cayabyab A, Gaston S, Berger R, Tanzi R, Halperin J, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder D, Smyth C, Laing N, Soriano E, Pericak-Vance M, Haines J, Rouleau G, Gusella J, Horvitz H, Brown R 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. [Erratum (1993) 364:362] Nature 362:59-62
-
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-YasekD, Cayabyab A, Gaston S, Berger R, Tanzi R, Halperin J, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder D, Smyth C, Laing N, Soriano E, Pericak-Vance M, Haines J, Rouleau G, Gusella J, Horvitz H, Brown R 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. [Erratum (1993) 364:362] Nature 362:59-62
-
-
-
-
34
-
-
11244262589
-
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
-
Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K 2004 The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 30:891-899
-
(2004)
Endocr Res
, vol.30
, pp. 891-899
-
-
Huebner, A.1
Kaindl, A.M.2
Knobeloch, K.P.3
Petzold, H.4
Mann, P.5
Koehler, K.6
-
35
-
-
38749084157
-
Oxidative stress and oxidative DNA damage is characteristic for mixed Alzheimer disease/vascular dementia
-
Gackowski D, Rozalski R, Siomek A, Dziaman T, Nicpon K, Klimarczyk M, Araszkiewicz A, Olinski R 2008 Oxidative stress and oxidative DNA damage is characteristic for mixed Alzheimer disease/vascular dementia. J Neurol Sci 266:57-62
-
(2008)
J Neurol Sci
, vol.266
, pp. 57-62
-
-
Gackowski, D.1
Rozalski, R.2
Siomek, A.3
Dziaman, T.4
Nicpon, K.5
Klimarczyk, M.6
Araszkiewicz, A.7
Olinski, R.8
-
36
-
-
36849011950
-
Interaction of the melanocortin 2 receptor with nucleoporin 50: Evidence for a novel pathway between a G-protein-coupled receptor and the nucleus
-
Doufexis M, Storr HL, King PJ, Clark AJ 2007 Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus. FASEB J 21:4095-4100
-
(2007)
FASEB J
, vol.21
, pp. 4095-4100
-
-
Doufexis, M.1
Storr, H.L.2
King, P.J.3
Clark, A.J.4
-
37
-
-
58149469932
-
Transgene optimization significantly improves SIN vector titers, gp91(phox) expression and reconstitution of superoxide production in X-CGD cells
-
Moreno-Carranza B, Gentsch M, Stein S, Schambach A, Santilli G, Rudolf E, Ryser MF, Haria S, Thrasher AJ, Baum C, Brenner S, Grez M 2009 Transgene optimization significantly improves SIN vector titers, gp91(phox) expression and reconstitution of superoxide production in X-CGD cells. Gene Ther 16:111-118
-
(2009)
Gene Ther
, vol.16
, pp. 111-118
-
-
Moreno-Carranza, B.1
Gentsch, M.2
Stein, S.3
Schambach, A.4
Santilli, G.5
Rudolf, E.6
Ryser, M.F.7
Haria, S.8
Thrasher, A.J.9
Baum, C.10
Brenner, S.11
Grez, M.12
-
38
-
-
0036252492
-
High-level transduction and gene expression in hematopoietic repopulating cells using a human immunodeficiency virus type 1-based lentiviral vector containing an internal spleen focus forming virus promoter
-
Demaison C, Parsley K, Brouns G, Scherr M, Battmer K, Kinnon C, Grez M, Thrasher AJ 2002 High-level transduction and gene expression in hematopoietic repopulating cells using a human immunodeficiency virus type 1-based lentiviral vector containing an internal spleen focus forming virus promoter. Hum Gene Ther 13: 803-813
-
(2002)
Hum Gene Ther
, vol.13
, pp. 803-813
-
-
Demaison, C.1
Parsley, K.2
Brouns, G.3
Scherr, M.4
Battmer, K.5
Kinnon, C.6
Grez, M.7
Thrasher, A.J.8
-
39
-
-
58149095365
-
Visualizing protein-RNA interactions inside cells by fluorescence resonance energy transfer
-
Lorenz M 2009 Visualizing protein-RNA interactions inside cells by fluorescence resonance energy transfer. RNA 15:97-103
-
(2009)
RNA
, vol.15
, pp. 97-103
-
-
Lorenz, M.1
-
40
-
-
0942287243
-
Oxidative stress affects the junctional integrity of retinal pigment epithelial cells
-
Bailey TA, Kanuga N, Romero IA, Greenwood J, Luthert PJ, Cheetham ME 2004 Oxidative stress affects the junctional integrity of retinal pigment epithelial cells. Invest Ophthalmol Vis Sci 45:675-684
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 675-684
-
-
Bailey, T.A.1
Kanuga, N.2
Romero, I.A.3
Greenwood, J.4
Luthert, P.J.5
Cheetham, M.E.6
|