-
1
-
-
36248969224
-
Function and dysfunction of CNG channels: Insights from channelopathies and mouse models
-
DOI 10.1007/s12035-007-0025-y
-
Biel, M. and Michalakis, S. (2007) Function and dysfunction of CNG channels: insights from channelopathies and mouse models. Mol. Neurobiol. 35, 266-277 (Pubitemid 350129688)
-
(2007)
Molecular Neurobiology
, vol.35
, Issue.3
, pp. 266-277
-
-
Biel, M.1
Michalakis, S.2
-
2
-
-
34648825477
-
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
-
DOI 10.1167/iovs.06-1521
-
Khan, N. W., Wissinger, B., Kohl, S. and Sieving, P. A. (2007) CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest. Ophthalmol. Visual Sci. 48, 3864-3871 (Pubitemid 351261128)
-
(2007)
Investigative Ophthalmology and Visual Science
, vol.48
, Issue.8
, pp. 3864-3871
-
-
Khan, N.W.1
Wissinger, B.2
Kohl, S.3
Sieving, P.A.4
-
3
-
-
68349100283
-
Genetic etiology and clinical consequences of complete and incomplete achromatopsia
-
Thiadens, A. A., Slingerland, N. W., Roosing, S., van Schooneveld, M. J., van Lith-Verhoeven, J. J., van Moll-Ramirez, N., van den Born, L. I., Hoyng, C. B., Cremers, F. P. and Klaver, C. C. (2009) Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 116, 1984-1989.e1
-
(2009)
Ophthalmology
, vol.116
-
-
Thiadens, A.A.1
Slingerland, N.W.2
Roosing, S.3
Van Schooneveld, M.J.4
Van Lith-Verhoeven, J.J.5
Van Moll-Ramirez, N.6
Van Den Born, L.I.7
Hoyng, C.B.8
Cremers, F.P.9
Klaver, C.C.10
-
4
-
-
14944385597
-
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
-
DOI 10.1002/humu.20142
-
Nishiguchi, K. M., Sandberg, M. A., Gorji, N., Berson, E. L. and Dryja, T. P. (2005) Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum. Mutat. 25, 248-258 (Pubitemid 40365143)
-
(2005)
Human Mutation
, vol.25
, Issue.3
, pp. 248-258
-
-
Nishiguchi, K.M.1
Sandberg, M.A.2
Gorji, N.3
Berson, E.L.4
Dryja, T.P.5
-
5
-
-
0034284696
-
Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
-
Kohl, S., Baumann, B., Broghammer, M., Jagle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L. T. and Wissinger, B. (2000) Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum. Mol. Genet. 9, 2107-2116
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
Jagle, H.4
Sieving, P.5
Kellner, U.6
Spegal, R.7
Anastasi, M.8
Zrenner, E.9
Sharpe, L.T.10
Wissinger, B.11
-
6
-
-
0034822311
-
CNGA3 mutations in hereditary cone photoreceptor disorders
-
DOI 10.1086/323613
-
Wissinger, B., Gamer, D., Jagle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T. et al. (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am. J. Hum. Genet. 69, 722-737 (Pubitemid 32868518)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.4
, pp. 722-737
-
-
Wissinger, B.1
Gamer, D.2
Jagle, H.3
Giorda, R.4
Marx, T.5
Mayer, S.6
Tippmann, S.7
Broghammer, M.8
Jurklies, B.9
Rosenberg, T.10
Jacobson, S.G.11
Sener, E.C.12
Tatlipinar, S.13
Hoyng, C.B.14
Castellan, C.15
Bitoun, P.16
Andreasson, S.17
Rudolph, G.18
Kellner, U.19
Lorenz, B.20
Wolff, G.21
Verellen-Dumoulin, C.22
Schwartz, M.23
Cremers, F.P.M.24
Apfelstedt-Sylla, E.25
Zrenner, E.26
Salati, R.27
Sharpe, L.T.28
Kohl, S.29
more..
-
7
-
-
21144442266
-
Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit
-
DOI 10.1152/ajpcell.00490.2004
-
Liu, C. and Varnum, M. D. (2005) Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. Am. J. Physiol. 289, C187-C198 (Pubitemid 40880839)
-
(2005)
American Journal of Physiology - Cell Physiology
, vol.289
, Issue.1
-
-
Liu, C.1
Varnum, M.D.2
-
8
-
-
29944443288
-
Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels
-
Bright, S. R., Brown, T. E. and Varnum, M. D. (2005) Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels. Mol. Vision 11, 1141-1150 (Pubitemid 43040542)
-
(2005)
Molecular Vision
, vol.11
, pp. 1141-1150
-
-
Bright, S.R.1
Brown, T.E.2
Varnum, M.D.3
-
9
-
-
0141668884
-
Achromatopsia-associated Mutation in the Human Cone Photoreceptor Cyclic Nucleotide-gated Channel CNGB3 Subunit Alters the Ligand Sensitivity and Pore Properties of Heteromeric Channels
-
DOI 10.1074/jbc.M305102200
-
Peng, C., Rich, E. D. and Varnum, M. D. (2003) Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. J. Biol. Chem. 278, 34533-34540 (Pubitemid 37553302)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.36
, pp. 34533-34540
-
-
Peng, C.1
Rich, E.D.2
Varnum, M.D.3
-
10
-
-
34548084060
-
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel
-
DOI 10.1016/j.bbrc.2007.07.152, PII S0006291X07016476
-
Muraki-Oda, S., Toyoda, F., Okada, A., Tanabe, S., Yamade, S., Ueyama, H., Matsuura, H. and Ohji, M. (2007) Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel. Biochem. Biophys. Res. Commun. 362, 88-93 (Pubitemid 47296297)
-
(2007)
Biochemical and Biophysical Research Communications
, vol.362
, Issue.1
, pp. 88-93
-
-
Muraki-Oda, S.1
Toyoda, F.2
Okada, A.3
Tanabe, S.4
Yamade, S.5
Ueyama, H.6
Matsuura, H.7
Ohji, M.8
-
11
-
-
55349114752
-
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia
-
Reuter, P., Koeppen, K., Ladewig, T., Kohl, S., Baumann, B. and Wissinger, B. (2008) Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum. Mutat. 29, 1228-1236
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1228-1236
-
-
Reuter, P.1
Koeppen, K.2
Ladewig, T.3
Kohl, S.4
Baumann, B.5
Wissinger, B.6
-
12
-
-
23244464493
-
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel
-
DOI 10.1167/iovs.05-0179
-
Patel, K. A., Bartoli, K. M., Fandino, R. A., Ngatchou, A. N., Woch, G., Carey, J. and Tanaka, J. C. (2005) Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Invest. Ophthalmol. Visual Sci. 46, 2282-2290 (Pubitemid 43119470)
-
(2005)
Investigative Ophthalmology and Visual Science
, vol.46
, Issue.7
, pp. 2282-2290
-
-
Patel, K.A.1
Bartoli, K.M.2
Fandino, R.A.3
Ngatchou, A.N.4
Woch, G.5
Carey, J.6
Tanaka, J.C.7
-
13
-
-
10444226462
-
ER stress and the unfolded protein response
-
DOI 10.1016/j.mrfmmm.2004.06.056, PII S0027510704003719, Stress Responses
-
Schroder, M. and Kaufman, R. (2005) ER stress and the unfolded protein response. Mutat. Res. 569, 29-63 (Pubitemid 39643256)
-
(2005)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.569
, Issue.1-2
, pp. 29-63
-
-
Schroder, M.1
Kaufman, R.J.2
-
14
-
-
33751069967
-
Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins
-
Rutkowski, D. T., Arnold, S. M., Miller, C. N., Wu, J., Li, J., Gunnison, K. M., Mori, K., Sadighi Akha, A. A., Raden, D. and Kaufman, R. J. (2006) Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins. PLoS Biol. 4, e374
-
(2006)
PLoS Biol.
, vol.4
-
-
Rutkowski, D.T.1
Arnold, S.M.2
Miller, C.N.3
Wu, J.4
Li, J.5
Gunnison, K.M.6
Mori, K.7
Sadighi Akha, A.A.8
Raden, D.9
Kaufman, R.J.10
-
15
-
-
62549154503
-
Intricate links between ER stress and apoptosis
-
Madeo, F. and Kroemer, G. (2009) Intricate links between ER stress and apoptosis. Mol. Cell 33, 669-670
-
(2009)
Mol. Cell
, vol.33
, pp. 669-670
-
-
Madeo, F.1
Kroemer, G.2
-
16
-
-
27144542740
-
Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways
-
DOI 10.1385/CBB:43:3:365
-
Keller, S. H., Platoshyn, O. and Yuan, J. X. (2005) Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways. Cell. Biochem. Biophys. 43, 365-377 (Pubitemid 41506876)
-
(2005)
Cell Biochemistry and Biophysics
, vol.43
, Issue.3
, pp. 365-377
-
-
Keller, S.H.1
Platoshyn, O.2
Yuan, J.X.-J.3
-
17
-
-
36849077205
-
Coupling cystic fibrosis to endoplasmic reticulum stress: Differential role of Grp78 and ATF6
-
DOI 10.1016/j.bbadis.2007.10.004, PII S0925443907001950
-
Kerbiriou, M., Le Drévo, M., Férec, C. and Trouvé, P. (2007) Coupling cystic fibrosis to endoplasmic reticulum stress: differential role of Grp78 and ATF6. Biochim. Biophys. Acta 1772, 1236-1249 (Pubitemid 350235183)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.11-12
, pp. 1236-1249
-
-
Kerbiriou, M.1
Le, D.M.-A.2
Ferec, C.3
Trouve, P.4
-
18
-
-
46749108883
-
Chemical rescue of ΔF508-CFTR mimics genetic repair in cystic fibrosis bronchial epithelial cells
-
DOI 10.1074/mcp.M700303-MCP200
-
Singh, O. V., Pollard, H. B. and Zeitlin, P. L. (2008) Chemical rescue of ΔF508-CFTR mimics genetic repair in cystic fibrosis bronchial epithelial cells. Mol. Cell. Proteomics 7, 1099-1110 (Pubitemid 351943957)
-
(2008)
Molecular and Cellular Proteomics
, vol.7
, Issue.6
, pp. 1099-1110
-
-
Singh, O.V.1
Pollard, H.B.2
Zeitlin, P.L.3
-
19
-
-
0033615646
-
Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects
-
Zhou, Z., Gong, Q. and January, C. T. (1999) Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J. Biol. Chem. 274, 31123-31126
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 31123-31126
-
-
Zhou, Z.1
Gong, Q.2
January, C.T.3
-
20
-
-
0037085464
-
The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations
-
DOI 10.1074/jbc.M107345200
-
Ficker, E., Obejero-Paz, C. A., Zhao, S. and Brown, A. M. (2002) The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. J. Biol. Chem. 277, 4989-4998 (Pubitemid 34968538)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.7
, pp. 4989-4998
-
-
Ficker, E.1
Obejero-Paz, C.A.2
Zhao, S.3
Brown, A.M.4
-
21
-
-
1942469395
-
Retinoids Assist the Cellular Folding of the Autosomal Dominant Retinitis Pigmentosa Opsin Mutant P23H
-
DOI 10.1074/jbc.M312101200
-
Noorwez, S. M., Malhotra, R., McDowell, J. H., Smith, K. A., Krebs, M. P. and Kaushal, S. (2004) Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. J. Biol. Chem. 279, 16278-16284 (Pubitemid 38509322)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.16
, pp. 16278-16284
-
-
Noorwez, S.M.1
Malhotra, R.2
McDowell, J.H.3
Smith, K.A.4
Krebs, M.P.5
Kaushal, S.6
-
22
-
-
52949134162
-
Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa
-
Mendes, H. F. and Cheetham, M. E. (2008) Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa. Hum. Mol. Genet. 17, 3043-3054
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3043-3054
-
-
Mendes, H.F.1
Cheetham, M.E.2
-
23
-
-
34147170083
-
Involvement of ER stress in retinal cell death
-
Shimazawa, M., Inokuchi, Y., Ito, Y., Murata, H., Aihara, M., Miura, M., Araie, M. and Hara, H. (2007) Involvement of ER stress in retinal cell death. Mol. Vision 13, 578-587 (Pubitemid 46561917)
-
(2007)
Molecular Vision
, vol.13
, pp. 578-587
-
-
Shimazawa, M.1
Inokuchi, Y.2
Ito, Y.3
Murata, H.4
Aihara, M.5
Miura, M.6
Araie, M.7
Hara, H.8
-
24
-
-
58249093962
-
Effect of an inducer of BiP, a molecular chaperone, on endoplasmic reticulum (ER) stress-induced retinal cell death
-
Inokuchi, Y., Nakajima, Y., Shimazawa, M., Kurita, T., Kubo, M., Saito, A., Sajiki, H., Kudo, T., Aihara, M., Imaizumi, K. et al. (2009) Effect of an inducer of BiP, a molecular chaperone, on endoplasmic reticulum (ER) stress-induced retinal cell death. Invest. Ophthalmol. Visual Sci. 50, 334-344
-
(2009)
Invest. Ophthalmol. Visual Sci.
, vol.50
, pp. 334-344
-
-
Inokuchi, Y.1
Nakajima, Y.2
Shimazawa, M.3
Kurita, T.4
Kubo, M.5
Saito, A.6
Sajiki, H.7
Kudo, T.8
Aihara, M.9
Imaizumi, K.10
-
25
-
-
77950532428
-
Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78
-
Gorbatyuk, M. S., Knox, T., LaVail, M. M., Gorbatyuk, O. S., Noorwez, S. M., Hauswirth, W. W., Lin, J. H., Muzyczka, N. and Lewin, A. S. (2010) Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78. Proc. Natl. Acad. Sci. U.S.A. 107, 5961-5966
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 5961-5966
-
-
Gorbatyuk, M.S.1
Knox, T.2
LaVail, M.M.3
Gorbatyuk, O.S.4
Noorwez, S.M.5
Hauswirth, W.W.6
Lin, J.H.7
Muzyczka, N.8
Lewin, A.S.9
-
26
-
-
36049049392
-
IRE1 signaling affects cell fate during the unfolded protein response
-
DOI 10.1126/science.1146361
-
Lin, J. H., Li, H., Yasumura, D., Cohen, H. R., Zhang, C., Panning, B., Shokat, K. M., Lavail, M. M. and Walter, P. (2007) IRE1 signaling affects cell fate during the unfolded protein response. Science 318, 944-949 (Pubitemid 350098984)
-
(2007)
Science
, vol.318
, Issue.5852
, pp. 944-949
-
-
Lin, J.H.1
Li, H.2
Yasumura, D.3
Cohen, H.R.4
Zhang, C.5
Panning, B.6
Shokat, K.M.7
LaVail, M.M.8
Walter, P.9
-
27
-
-
31544470611
-
Protein aggregation in retinal cells and approaches to cell protection
-
DOI 10.1007/s10571-005-8474-1
-
Surgucheva, I., Ninkina, N., Buchman, V. L., Grasing, K. and Surguchov, A. (2005) Protein aggregation in retinal cells and approaches to cell protection. Cell. Mol. Neurobiol. 25, 1051-1066 (Pubitemid 43154827)
-
(2005)
Cellular and Molecular Neurobiology
, vol.25
, Issue.6
, pp. 1051-1066
-
-
Surgucheva, I.1
Ninkina, N.2
Buchman, V.L.3
Grasing, K.4
Surguchov, A.5
-
28
-
-
2342548656
-
Subunit configuration of heteromeric cone cyclic nucleotide-gated channels
-
DOI 10.1016/S0896-6273(04)00225-9, PII S0896627304002259
-
Peng, C., Rich, E. D. and Varnum, M. D. (2004) Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Neuron 42, 401-410 (Pubitemid 38610139)
-
(2004)
Neuron
, vol.42
, Issue.3
, pp. 401-410
-
-
Peng, C.1
Rich, E.D.2
Varnum, M.D.3
-
29
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl, M. W. (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29, e45
-
(2001)
Nucleic Acids Res.
, vol.29
-
-
Pfaffl, M.W.1
-
30
-
-
12344270322
-
Normalization of gene expression measurements in tumor tissues: Comparison of 13 endogenous control genes
-
DOI 10.1038/labinvest.3700208
-
de Kok, J. B., Roelofs, R. W., Giesendorf, B. A., Pennings, J. L., Waas, E. T., Feuth, T., Swinkels, D. W. and Span, P. N. (2005) Normalization of gene expression measurements in tumor tissues: comparison of 13 endogenous control genes. Lab. Invest. 85, 154-159 (Pubitemid 40128049)
-
(2005)
Laboratory Investigation
, vol.85
, Issue.1
, pp. 154-159
-
-
De Kok, J.B.1
Roelofs, R.W.2
Giesendorf, B.A.3
Pennings, J.L.4
Waas, E.T.5
Feuth, T.6
Swinkels, D.W.7
Span, P.N.8
-
31
-
-
38949085282
-
Functional expression of cone cyclic nucleotide-gated channel in cone photoreceptor-derived 661W cells
-
Fitzgerald, J. B., Malykhina, A. P., Al-Ubaidi, M. R. and Ding, X. Q. (2008) Functional expression of cone cyclic nucleotide-gated channel in cone photoreceptor-derived 661W cells. Adv. Exp. Med. Biol. 613, 327-334
-
(2008)
Adv. Exp. Med. Biol.
, vol.613
, pp. 327-334
-
-
Fitzgerald, J.B.1
Malykhina, A.P.2
Al-Ubaidi, M.R.3
Ding, X.Q.4
-
32
-
-
0037627280
-
Selective heteromeric assembly of cyclic nucleotide-gated channels
-
DOI 10.1073/pnas.0931279100
-
Zhong, H., Lai, J. and Yau, K. W. (2003) Selective heteromeric assembly of cyclic nucleotide-gated channels. Proc. Natl. Acad. Sci. U.S.A. 100, 5509-5513 (Pubitemid 36542735)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.9
, pp. 5509-5513
-
-
Zhong, H.1
Lai, J.2
Yau, K.-W.3
-
33
-
-
1542742250
-
Expression of cone-photoreceptor-specific antigens in a cell line derived from retinal tumors in transgenic mice
-
DOI 10.1167/iovs.03-1114
-
Tan, E., Ding, X. Q., Saadi, A., Agarwal, N., Naash, M. I. and Al-Ubaidi, M. R. (2004) Expression of cone-photoreceptor-specific antigens in a cell line derived from retinal tumors in transgenic mice. Invest. Ophthalmol. Visual Sci. 45, 764-768 (Pubitemid 38868367)
-
(2004)
Investigative Ophthalmology and Visual Science
, vol.45
, Issue.3
, pp. 764-768
-
-
Tan, E.1
Ding, X.-Q.2
Saadi, A.3
Agarwal, N.4
Naash, M.I.5
Al-Ubaidi, M.R.6
-
34
-
-
77957316569
-
Restoring endoplasmic reticulum function by chemical chaperones: An emerging therapeutic approach for metabolic diseases
-
Engin, F. and Hotamisligil, G. S. (2010) Restoring endoplasmic reticulum function by chemical chaperones: an emerging therapeutic approach for metabolic diseases. Diabetes, Obes. Metab. 12 (Suppl. 2), 108-115
-
(2010)
Diabetes, Obes. Metab.
, vol.12
, Issue.SUPPL. 2
, pp. 108-115
-
-
Engin, F.1
Hotamisligil, G.S.2
-
35
-
-
33846279033
-
2+ depletion
-
DOI 10.1016/j.bbamcr.2006.10.002, PII S0167488906003168
-
Copanaki, E., Schurmann, T., Eckert, A., Leuner, K., Muller, W. E., Prehn, J. H. and Kogel, D. (2007) The amyloid precursor protein potentiates CHOP induction and cell death in response to ER Ca2+ depletion. Biochim. Biophys. Acta 1773, 157-165 (Pubitemid 46123616)
-
(2007)
Biochimica et Biophysica Acta - Molecular Cell Research
, vol.1773
, Issue.2
, pp. 157-165
-
-
Copanaki, E.1
Schurmann, T.2
Eckert, A.3
Leuner, K.4
Muller, W.E.5
Prehn, J.H.M.6
Kogel, D.7
-
36
-
-
0026760343
-
Calcium ionophore A23187 induces expression of the growth arrest and DNA damage inducible CCAAT/enhancer-binding protein (C/EBP)-related gene, gadd153
-
Bartlett, J. D., Luethy, J. D., Carlson, S. G., Sollott, S. J. and Holbrook, N. J. (1992) Calcium ionophore A23187 induces expression of the growth arrest and DNA damage inducible CCAAT/enhancer-binding protein (C/EBP)-related gene, gadd153. J. Biol. Chem. 267, 20465-20470
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 20465-20470
-
-
Bartlett, J.D.1
Luethy, J.D.2
Carlson, S.G.3
Sollott, S.J.4
Holbrook, N.J.5
-
37
-
-
0037078979
-
The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichlometry
-
DOI 10.1038/nature01201
-
Zhong, H., Molday, L. L., Molday, R. S. and Yau, K. W. (2002) The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry. Nature 420, 193-198 (Pubitemid 35340125)
-
(2002)
Nature
, vol.420
, Issue.6912
, pp. 193-198
-
-
Zhong, H.1
Molday, L.L.2
Molday, R.S.3
Yau, K.-W.4
-
38
-
-
18244390994
-
Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3
-
DOI 10.1167/iovs.04-1503
-
Michalakis, S., Geiger, H., Haverkamp, S., Hofmann, F., Gerstner, A. and Biel, M. (2005) Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3. Invest. Ophthalmol. Visual Sci. 46, 1516-1524 (Pubitemid 41685898)
-
(2005)
Investigative Ophthalmology and Visual Science
, vol.46
, Issue.4
, pp. 1516-1524
-
-
Michalakis, S.1
Geiger, H.2
Haverkamp, S.3
Hofmann, F.4
Gerstner, A.5
Biel, M.6
-
39
-
-
70450164177
-
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: Down-regulation of CNGA3 biosynthesis as a potential mechanism
-
Ding, X. Q., Harry, C. S., Umino, Y., Matveev, A. V., Fliesler, S. J. and Barlow, R. B. (2009) Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. Hum. Mol. Genet. 18, 4770-4780
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4770-4780
-
-
Ding, X.Q.1
Harry, C.S.2
Umino, Y.3
Matveev, A.V.4
Fliesler, S.J.5
Barlow, R.B.6
-
40
-
-
77749298947
-
The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change
-
Matveev, A. V., Fitzgerald, J. B., Xu, J., Malykhina, A. P., Rodgers, K. K. and Ding, X. Q. (2010) The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change. Biochemistry 49, 1628-1639
-
(2010)
Biochemistry
, vol.49
, pp. 1628-1639
-
-
Matveev, A.V.1
Fitzgerald, J.B.2
Xu, J.3
Malykhina, A.P.4
Rodgers, K.K.5
Ding, X.Q.6
-
41
-
-
33645300737
-
From molecule to malady
-
Ashcroft, F. M. (2006) From molecule to malady. Nature 440, 440-447
-
(2006)
Nature
, vol.440
, pp. 440-447
-
-
Ashcroft, F.M.1
-
42
-
-
56249088227
-
Is cystic fibrosis-related diabetes an apoptotic consequence of ER stress in pancreatic cells?
-
Ali, B. R. (2009) Is cystic fibrosis-related diabetes an apoptotic consequence of ER stress in pancreatic cells? Med. Hypotheses 72, 55-57
-
(2009)
Med. Hypotheses
, vol.72
, pp. 55-57
-
-
Ali, B.R.1
-
43
-
-
11244321846
-
Early onset diabetes mellitus. Tip or iceberg?
-
Polychronakos, C. (2004) Early onset diabetes mellitus. Tip or iceberg? Pediatr. Diabetes 5, 171-173
-
(2004)
Pediatr. Diabetes
, vol.5
, pp. 171-173
-
-
Polychronakos, C.1
-
44
-
-
0035122157
-
European epidemiologic registry of cystic fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations
-
DOI 10.1002/1099-0496(200101)31:1<1::AID-PPUL1000>3.0.CO;2-T
-
Koch, C., Cuppens, H., Rainisio, M., Madessani, U., Harms, H., Hodson, M., Mastella, G., Navarro, J., Strandvik, B. and McKenzie, S. (2001) European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr. Pulmonol. 31, 1-12 (Pubitemid 32154734)
-
(2001)
Pediatric Pulmonology
, vol.31
, Issue.1
, pp. 1-12
-
-
Koch, C.1
Cuppens, H.2
Rainisio, M.3
Madessani, U.4
Harms, H.K.5
Hodson, M.E.6
Mastella, G.7
Navarro, J.8
Strandvik, B.9
McKenzie, S.G.10
-
45
-
-
18144377758
-
Epidemiology of cystic fibrosis-related diabetes
-
DOI 10.1016/j.jpeds.2004.12.039
-
Marshall, B. C., Butler, S. M., Stoddard, M., Moran, A. M., Liou, T. G. and Morgan, W. J. (2005) Epidemiology of cystic fibrosis-related diabetes. J. Pediatr. 146, 681-687 (Pubitemid 40616255)
-
(2005)
Journal of Pediatrics
, vol.146
, Issue.5
, pp. 681-687
-
-
Marshall, B.C.1
Butler, S.M.2
Stoddard, M.3
Moran, A.M.4
Liou, T.G.5
Morgan, W.J.6
Asthana, S.7
-
46
-
-
0035930549
-
Sarco/endoplasmic reticulum calcium ATPase-2 expression is regulated by ATF6 during the endoplasmic reticulum stress response: Intracellular signaling of calcium stress in a cardiac myocyte model system
-
Thuerauf, D. J., Hoover, H., Meller, J., Hernandez, J., Su, L., Andrews, C., Dillmann, W. H., McDonough, P. M. and Glembotski, C. C. (2001) Sarco/endoplasmic reticulum calcium ATPase-2 expression is regulated by ATF6 during the endoplasmic reticulum stress response: intracellular signaling of calcium stress in a cardiac myocyte model system. J. Biol. Chem. 276, 48309-48317
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 48309-48317
-
-
Thuerauf, D.J.1
Hoover, H.2
Meller, J.3
Hernandez, J.4
Su, L.5
Andrews, C.6
Dillmann, W.H.7
McDonough, P.M.8
Glembotski, C.C.9
-
47
-
-
0034927190
-
Pathways to photoreceptor cell death in inherited retinal degenerations
-
Pierce, EA. (2001) Pathways to photoreceptor cell death in inherited retinal degenerations. BioEssays 23, 605-618
-
(2001)
BioEssays
, vol.23
, pp. 605-618
-
-
Pierce, E.A.1
-
48
-
-
33947328548
-
Sustained elevation of intracellular cGMP causes oxidative stress triggering calpain-mediated apoptosis in photoreceptor degeneration
-
DOI 10.1080/02713680601161238, PII 773374745
-
Sharma, A. K. and Rohrer, B. (2007) Sustained elevation of intracellular cGMP causes oxidative stress triggering calpain-mediated apoptosis in photoreceptor degeneration. Curr. Eye Res. 32, 259-269 (Pubitemid 46439684)
-
(2007)
Current Eye Research
, vol.32
, Issue.3
, pp. 259-269
-
-
Sharma, A.K.1
Rohrer, B.2
-
49
-
-
38449086823
-
Activation of endoplasmic reticulum stress in degenerating photoreceptors of the rd1 mouse
-
Yang, L. P., Wu, L. M., Guo, X. J. and Tso, M. O. (2007) Activation of endoplasmic reticulum stress in degenerating photoreceptors of the rd1 mouse. Invest. Ophthalmol. Visual Sci. 48, 5191-5198
-
(2007)
Invest. Ophthalmol. Visual Sci.
, vol.48
, pp. 5191-5198
-
-
Yang, L.P.1
Wu, L.M.2
Guo, X.J.3
Tso, M.O.4
-
50
-
-
65649146419
-
ER stress protects from retinal degeneration
-
Mendes, C. S., Levet, C., Chatelain, G., Dourlen, P., Fouillet, A., Dichtel-Danjoy, M. L., Gambis, A., Ryoo, H. D., Steller, H. and Mollereau, B. (2009) ER stress protects from retinal degeneration. EMBO J. 28, 1296-1307
-
(2009)
EMBO J.
, vol.28
, pp. 1296-1307
-
-
Mendes, C.S.1
Levet, C.2
Chatelain, G.3
Dourlen, P.4
Fouillet, A.5
Dichtel-Danjoy, M.L.6
Gambis, A.7
Ryoo, H.D.8
Steller, H.9
Mollereau, B.10
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