-
1
-
-
0000357174
-
The genetic aspects of primary eunuchoidism
-
Kallmann, F. J., Schoenfeld, W. A., Barrera, S. E. (1944) The genetic aspects of primary eunuchoidism. Am. J. Ment. Deficiency 48, 203-236
-
(1944)
Am. J. Ment. Deficiency
, vol.48
, pp. 203-236
-
-
Kallmann, F.J.1
Schoenfeld, W.A.2
Barrera, S.E.3
-
3
-
-
0015222095
-
Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men
-
Naftolin, F., Harris, G. W., and Bobrow, M. (1971) Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men. Nature 232, 496-497
-
(1971)
Nature
, vol.232
, pp. 496-497
-
-
Naftolin, F.1
Harris, G.W.2
Bobrow, M.3
-
4
-
-
0024470630
-
Luteinizing hormone- releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
-
Schwanzel-Fukuda, M., Bick, D., and Pfaff, D. W. (1989) Luteinizing hormone- releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res. Mol. Brain Res. 6, 311-326
-
(1989)
Brain Res. Mol. Brain Res.
, vol.6
, pp. 311-326
-
-
Schwanzel-Fukuda, M.1
Bick, D.2
Pfaff, D.W.3
-
5
-
-
55749108383
-
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al
-
Hardelin, J. P., and Dodé, C. (2008) The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev. 2, 181-193
-
(2008)
Sex Dev.
, vol.2
, pp. 181-193
-
-
Hardelin, J.P.1
Dodé, C.2
-
6
-
-
77952970891
-
Complex genetics in idiopathic hypogonadotropic hypogonadism
-
Pitteloud, N., Durrani, S., Raivio, T., and Sykiotis, G. P. (2010) Complex genetics in idiopathic hypogonadotropic hypogonadism. Front. Horm. Res. 39, 142-153
-
(2010)
Front. Horm. Res.
, vol.39
, pp. 142-153
-
-
Pitteloud, N.1
Durrani, S.2
Raivio, T.3
Sykiotis, G.P.4
-
7
-
-
84877716105
-
Clinical genetic testing for Kallmann syndrome
-
Layman, L. C. (2013) Clinical genetic testing for Kallmann syndrome. J. Clin. Endocrinol. Metab. 98, 1860-1862
-
(2013)
J. Clin. Endocrinol. Metab.
, vol.98
, pp. 1860-1862
-
-
Layman, L.C.1
-
8
-
-
53749103334
-
Loss-of-function mutations in the genes encoding prokineticin- 2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome
-
Abreu, A. P., Trarbach, E. B., de Castro, M., Frade Costa, E. M., Versiani, B., Matias Baptista, M. T., Garmes, H. M., Mendonca, B. B., and Latronico, A. C. (2008) Loss-of-function mutations in the genes encoding prokineticin- 2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J. Clin. Endocrinol. Metab. 93, 4113-4118
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 4113-4118
-
-
Abreu, A.P.1
Trarbach, E.B.2
De Castro, M.3
Frade Costa, E.M.4
Versiani, B.5
Matias Baptista, M.T.6
Garmes, H.M.7
Mendonca, B.B.8
Latronico, A.C.9
-
9
-
-
33750471153
-
Kallmann syndrome: Mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
-
Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M. L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., Morgan, G., Murat, A., Toublanc, J. E., Wolczynski, S., Delpech, M., Petit, C., Young, J., and Hardelin, J. P. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2, e175
-
(2006)
PLoS Genet.
, vol.2
-
-
Dodé, C.1
Teixeira, L.2
Levilliers, J.3
Fouveaut, C.4
Bouchard, P.5
Kottler, M.L.6
Lespinasse, J.7
Lienhardt-Roussie, A.8
Mathieu, M.9
Moerman, A.10
Morgan, G.11
Murat, A.12
Toublanc, J.E.13
Wolczynski, S.14
Delpech, M.15
Petit, C.16
Young, J.17
Hardelin, J.P.18
-
10
-
-
84883746939
-
PROK2/PROKR2 signaling and Kallmann syndrome
-
Dodé, C., and Rondard, P. (2013) PROK2/PROKR2 signaling and Kallmann syndrome. Front. Endocrinol. 12, 19
-
(2013)
Front. Endocrinol.
, vol.12
, pp. 19
-
-
Dodé, C.1
Rondard, P.2
-
11
-
-
33645219817
-
Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2
-
Matsumoto, S., Yamazaki, C., Masumoto, K. H., Nagano, M., Naito, M., Soga, T., Hiyama, H., Matsumoto, M., Takasaki, J., Kamohara, M., Matsuo, A., Ishii, H., Kobori, M., Katoh, M., Matsushime, H., Furuichi, K., and Shigeyoshi, Y. (2006) Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc. Natl. Acad. Sci. U.S.A. 103, 4140-4145
-
(2006)
Proc. Natl. Acad. Sci. U.S.A.
, vol.103
, pp. 4140-4145
-
-
Matsumoto, S.1
Yamazaki, C.2
Masumoto, K.H.3
Nagano, M.4
Naito, M.5
Soga, T.6
Hiyama, H.7
Matsumoto, M.8
Takasaki, J.9
Kamohara, M.10
Matsuo, A.11
Ishii, H.12
Kobori, M.13
Katoh, M.14
Matsushime, H.15
Furuichi, K.16
Shigeyoshi, Y.17
-
12
-
-
36849044530
-
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
-
Pitteloud, N., Zhang, C., Pignatelli, D., Li, J. D., Raivio, T., Cole, L. W., Plummer, L., Jacobson-Dickman, E. E., Mellon, P. L., Zhou, Q. Y., and Crowley, W. F., Jr. (2007) Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc. Natl. Acad. Sci. U.S.A. 104, 17447-17452
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 17447-17452
-
-
Pitteloud, N.1
Zhang, C.2
Pignatelli, D.3
Li, J.D.4
Raivio, T.5
Cole, L.W.6
Plummer, L.7
Jacobson-Dickman, E.E.8
Mellon, P.L.9
Zhou, Q.Y.10
Crowley Jr., W.F.11
-
13
-
-
21344438597
-
Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling
-
Ng, K. L., Li, J. D., Cheng, M. Y., Leslie, F. M., Lee, A. G., and Zhou, Q. Y. (2005) Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling. Science 308, 1923-1927
-
(2005)
Science
, vol.308
, pp. 1923-1927
-
-
Ng, K.L.1
Li, J.D.2
Cheng, M.Y.3
Leslie, F.M.4
Lee, A.G.5
Zhou, Q.Y.6
-
14
-
-
84888231490
-
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients
-
Sarfati, J., Fouveaut, C., Leroy, C., Jeanpierre, M., Hardelin, J. P., and Dodé, C. (2013) Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. Eur. J. Endocrinol. 169, 805-809
-
(2013)
Eur. J. Endocrinol.
, vol.169
, pp. 805-809
-
-
Sarfati, J.1
Fouveaut, C.2
Leroy, C.3
Jeanpierre, M.4
Hardelin, J.P.5
Dodé, C.6
-
15
-
-
28044450622
-
Prokineticin 2 and circadian clock output
-
Zhou, Q. Y., and Cheng, M. Y. (2005) Prokineticin 2 and circadian clock output. FEBS J. 272, 5703-5709
-
(2005)
FEBS J.
, vol.272
, pp. 5703-5709
-
-
Zhou, Q.Y.1
Cheng, M.Y.2
-
16
-
-
84864822857
-
The circadian output signals from the suprachiasmatic nuclei
-
Li, J. D., Hu, W. P., and Zhou, Q. Y. (2012) The circadian output signals from the suprachiasmatic nuclei. Prog. Brain Res. 199, 119-127
-
(2012)
Prog. Brain Res.
, vol.199
, pp. 119-127
-
-
Li, J.D.1
Hu, W.P.2
Zhou, Q.Y.3
-
17
-
-
51649125515
-
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum
-
Cole, L. W., Sidis, Y., Zhang, C., Quinton, R., Plummer, L., Pignatelli, D., Hughes, V. A., Dwyer, A. A., Raivio, T., Hayes, F. J., Seminara, S. B., Huot, C., Alos, N., Speiser, P., Takeshita, A., Van Vliet, G., Pearce, S., Crowley, W. F., Jr., Zhou, Q. Y., and Pitteloud, N. (2008) Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin- releasing hormone deficiency: molecular genetics and clinical spectrum. J. Clin. Endocrinol. Metab. 93, 3551-3559
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 3551-3559
-
-
Cole, L.W.1
Sidis, Y.2
Zhang, C.3
Quinton, R.4
Plummer, L.5
Pignatelli, D.6
Hughes, V.A.7
Dwyer, A.A.8
Raivio, T.9
Hayes, F.J.10
Seminara, S.B.11
Huot, C.12
Alos, N.13
Speiser, P.14
Takeshita, A.15
Van Vliet, G.16
Pearce, S.17
Crowley Jr., W.F.18
Zhou, Q.Y.19
Pitteloud, N.20
more..
-
18
-
-
57649205374
-
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
-
Monnier, C., Dodé, C., Fabre, L., Teixeira, L., Labesse, G., Pin, J. P., Hardelin, J. P., and Rondard, P. (2009) PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Hum. Mol. Genet. 18, 75-81
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 75-81
-
-
Monnier, C.1
Dodé, C.2
Fabre, L.3
Teixeira, L.4
Labesse, G.5
Pin, J.P.6
Hardelin, J.P.7
Rondard, P.8
-
19
-
-
79955753988
-
Disease-causing mutation in PKR2 receptor reveals a critical role of positive charges in the second intracellular loop for G-protein coupling and receptor trafficking
-
Peng, Z., Tang, Y., Luo, H., Jiang, F., Yang, J., Sun, L., and Li, J. D. (2011) Disease-causing mutation in PKR2 receptor reveals a critical role of positive charges in the second intracellular loop for G-protein coupling and receptor trafficking. J. Biol. Chem. 286, 16615-16622
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 16615-16622
-
-
Peng, Z.1
Tang, Y.2
Luo, H.3
Jiang, F.4
Yang, J.5
Sun, L.6
Li, J.D.7
-
20
-
-
84883829845
-
Functional analysis of the distal region of the third intracellular loop of PROKR2
-
Zhou, X. T., Chen, D. N., Xie, Z. Q., Peng, Z., Xia, K. D., Liu, H. D., Liu, W., Su, B., and Li, J. D. (2013) Functional analysis of the distal region of the third intracellular loop of PROKR2. Biochem. Biophys. Res. Commun. 439, 12-17
-
(2013)
Biochem. Biophys. Res. Commun.
, vol.439
, pp. 12-17
-
-
Zhou, X.T.1
Chen, D.N.2
Xie, Z.Q.3
Peng, Z.4
Xia, K.D.5
Liu, H.D.6
Liu, W.7
Su, B.8
Li, J.D.9
-
21
-
-
0034118221
-
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
-
Morello, J. P., Salahpour, A., Laperriere, A., Bernier, V., Arthus, M. F., Lonergan, M., Petäjä-Repo, U., Angers, S., Morin, D., Bichet, D. G., and Bouvier, M. (2000) Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J. Clin. Invest. 105, 887-895
-
(2000)
J. Clin. Invest.
, vol.105
, pp. 887-895
-
-
Morello, J.P.1
Salahpour, A.2
Laperriere, A.3
Bernier, V.4
Arthus, M.F.5
Lonergan, M.6
Petäjä-Repo, U.7
Angers, S.8
Morin, D.9
Bichet, D.G.10
Bouvier, M.11
-
22
-
-
0037007201
-
Ligands act as pharmacological chaperones and increase the efficiency of δ-opioid receptor maturation
-
Petäjä-Repo, U. E., Hogue, M., Bhalla, S., Laperrière, A., Morello, J. P., and Bouvier, M. (2002) Ligands act as pharmacological chaperones and increase the efficiency of δ-opioid receptor maturation. EMBO J. 21, 1628-1637
-
(2002)
EMBO J
, vol.21
, pp. 1628-1637
-
-
Petäjä-Repo, U.E.1
Hogue, M.2
Bhalla, S.3
Laperrière, A.4
Morello, J.P.5
Bouvier, M.6
-
23
-
-
0036322898
-
Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: Misrouted proteins as a novel disease etiology and therapeutic target
-
Janovick, J. A., Maya-Nunez, G., and Conn, P. M. (2002) Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target. J. Clin. Endocrinol. Metab. 87, 3255-3262
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 3255-3262
-
-
Janovick, J.A.1
Maya-Nunez, G.2
Conn, P.M.3
-
24
-
-
79955555416
-
Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist
-
Newton, C. L., Whay, A. M., McArdle, C. A., Zhang, M., van Koppen, C. J., van de Lagemaat, R., Segaloff, D. L., and Millar, R. P. (2011) Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist. Proc. Natl. Acad. Sci. U.S.A. 108, 7172-7176
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 7172-7176
-
-
Newton, C.L.1
Whay, A.M.2
McArdle, C.A.3
Zhang, M.4
Van Koppen, C.J.5
Van De Lagemaat, R.6
Segaloff, D.L.7
Millar, R.P.8
-
25
-
-
85047683541
-
Chemical chaperones: A pharmacological strategy for disorders of protein folding and trafficking
-
Perlmutter, D. H. (2002) Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking. Pediatr. Res. 52, 832-836
-
(2002)
Pediatr. Res.
, vol.52
, pp. 832-836
-
-
Perlmutter, D.H.1
-
26
-
-
33745167938
-
Protein-misfolding diseases and chaperone-based therapeutic approaches
-
Chaudhuri, T. K., and Paul, S. (2006) Protein-misfolding diseases and chaperone-based therapeutic approaches. FEBS J. 273, 1331-1349
-
(2006)
FEBS J.
, vol.273
, pp. 1331-1349
-
-
Chaudhuri, T.K.1
Paul, S.2
-
27
-
-
84872797793
-
APK2/Bv8/PROK2 antagonist suppresses tumorigenic processes by inhibiting angiogenesis in glioma and blocking myeloid cell infiltration in pancreatic cancer
-
Curtis, V. F., Wang, H., Yang, P., McLendon, R. E., Li, X., Zhou, Q. Y., and Wang, X. F. (2013)APK2/Bv8/PROK2 antagonist suppresses tumorigenic processes by inhibiting angiogenesis in glioma and blocking myeloid cell infiltration in pancreatic cancer. PloS One 8, e54916
-
(2013)
PloS One
, vol.8
-
-
Curtis, V.F.1
Wang, H.2
Yang, P.3
McLendon, R.E.4
Li, X.5
Zhou, Q.Y.6
Wang, X.F.7
-
28
-
-
84859471538
-
Prokineticin 2 is an endangering mediator of cerebral ischemic injury
-
Cheng, M. Y., Lee, A. G., Culbertson, C., Sun, G., Talati, R. K., Manley, N. C., Li, X., Zhao, H., Lyons, D. M., Zhou, Q. Y., Steinberg, G. K., and Sapolsky, R. M. (2012) Prokineticin 2 is an endangering mediator of cerebral ischemic injury. Proc. Natl. Acad. Sci. U.S.A. 109, 5475-5480
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 5475-5480
-
-
Cheng, M.Y.1
Lee, A.G.2
Culbertson, C.3
Sun, G.4
Talati, R.K.5
Manley, N.C.6
Li, X.7
Zhao, H.8
Lyons, D.M.9
Zhou, Q.Y.10
Steinberg, G.K.11
Sapolsky, R.M.12
-
29
-
-
79958131573
-
Prokineticin 2 regulates the electrical activity of rat suprachiasmatic nuclei neurons
-
Ren, P., Zhang, H., Qiu, F., Liu, Y. Q., Gu, H., O'Dowd, D. K., Zhou, Q. Y., and Hu, W. P. (2011) Prokineticin 2 regulates the electrical activity of rat suprachiasmatic nuclei neurons. PloS One 6, e20263
-
(2011)
PloS One
, vol.6
-
-
Ren, P.1
Zhang, H.2
Qiu, F.3
Liu, Y.Q.4
Gu, H.5
O'dowd, D.K.6
Zhou, Q.Y.7
Hu, W.P.8
-
30
-
-
0030758374
-
Glycerol-assisted restorative ad- justment of flavoenzyme conformation perturbed by site-directed mutagenesis
-
Raibekas, A. A., and Massey, V. (1997) Glycerol-assisted restorative ad- justment of flavoenzyme conformation perturbed by site-directed mutagenesis. J. Biol. Chem. 272, 22248-22252
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 22248-22252
-
-
Raibekas, A.A.1
Massey, V.2
-
31
-
-
78751550063
-
Chemical and pharmacological chaperones: Application for recombinant protein production and protein folding diseases
-
Rajan, R. S., Tsumoto, K., Tokunaga, M., Tokunaga, H., Kita, Y., and Arakawa, T. (2011) Chemical and pharmacological chaperones: application for recombinant protein production and protein folding diseases. Curr. Med. Chem. 18, 1-15
-
(2011)
Curr. Med. Chem.
, vol.18
, pp. 1-15
-
-
Rajan, R.S.1
Tsumoto, K.2
Tokunaga, M.3
Tokunaga, H.4
Kita, Y.5
Arakawa, T.6
-
32
-
-
0023077578
-
Biosynthetic protein transport and sorting by the endoplasmic reticulum and Golgi
-
Pfeffer, S. R., and Rothman, J. E. (1987) Biosynthetic protein transport and sorting by the endoplasmic reticulum and Golgi. Annu. Rev. Biochem. 56, 829-852
-
(1987)
Annu. Rev. Biochem.
, vol.56
, pp. 829-852
-
-
Pfeffer, S.R.1
Rothman, J.E.2
-
33
-
-
0037336295
-
Quality control in the endoplasmic reticulum
-
Ellgaard, L., and Helenius, A. (2003) Quality control in the endoplasmic reticulum. Nat. Rev. Mol. Cell Biol. 4, 181-191
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 181-191
-
-
Ellgaard, L.1
Helenius, A.2
-
34
-
-
35748948975
-
In and out of the ER: Protein folding, quality control, degradation, and related human diseases
-
Hebert, D. N., and Molinari, M. (2007) In and out of the ER: protein folding, quality control, degradation, and related human diseases. Physiol. Rev. 87, 1377-1408
-
(2007)
Physiol. Rev.
, vol.87
, pp. 1377-1408
-
-
Hebert, D.N.1
Molinari, M.2
-
35
-
-
0344393021
-
Quality control and protein folding in the secretory pathway
-
Trombetta, E. S., and Parodi, A. J. (2003) Quality control and protein folding in the secretory pathway. Annu. Rev. Cell Dev. Biol. 19, 649-676
-
(2003)
Annu. Rev. Cell Dev. Biol.
, vol.19
, pp. 649-676
-
-
Trombetta, E.S.1
Parodi, A.J.2
-
36
-
-
0035011489
-
Regulation of transport of the dopamine D1 receptor by a new membrane-associated ER protein
-
Bermak, J. C., Li, M., Bullock, C., and Zhou, Q. Y. (2001) Regulation of transport of the dopamine D1 receptor by a new membrane-associated ER protein. Nat. Cell Biol. 3, 492-498
-
(2001)
Nat. Cell Biol.
, vol.3
, pp. 492-498
-
-
Bermak, J.C.1
Li, M.2
Bullock, C.3
Zhou, Q.Y.4
-
37
-
-
84859806922
-
Regulation of GPCR trafficking by RAMPs
-
Bomberger, J. M., Parameswaran, N., and Spielman, W. S. (2012) Regulation of GPCR trafficking by RAMPs. Adv. Exp. Med. Biol. 744, 25-37
-
(2012)
Adv. Exp. Med. Biol.
, vol.744
, pp. 25-37
-
-
Bomberger, J.M.1
Parameswaran, N.2
Spielman, W.S.3
-
38
-
-
84856629737
-
CFTR: Folding, misfolding and correcting the δf508 conformational defect
-
Lukacs, G. L., and Verkman, A. S. (2012) CFTR: folding, misfolding and correcting the δF508 conformational defect. Trends Mol. Med. 18, 81-91
-
(2012)
Trends Mol. Med.
, vol.18
, pp. 81-91
-
-
Lukacs, G.L.1
Verkman, A.S.2
-
39
-
-
80053383751
-
GnRH receptor mutations in isolated gonadotropic deficiency
-
Chevrier, L., Guimiot, F., and de Roux, N. (2011) GnRH receptor mutations in isolated gonadotropic deficiency. Mol. Cell. Endocrinol. 346, 21-28
-
(2011)
Mol. Cell. Endocrinol.
, vol.346
, pp. 21-28
-
-
Chevrier, L.1
Guimiot, F.2
De Roux, N.3
-
41
-
-
0037072934
-
Arhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
-
Illing, M. E., Rajan, R. S., Bence, N. F., and Kopito, R. R. (2002)Arhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J. Biol. Chem. 277, 34150-34160
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 34150-34160
-
-
Illing, M.E.1
Rajan, R.S.2
Bence, N.F.3
Kopito, R.R.4
-
42
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
-
Hobbs, H. H., Russell, D. W., Brown, M. S., and Goldstein, J. L. (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu. Rev. Genet. 24, 133-170
-
(1990)
Annu. Rev. Genet.
, vol.24
, pp. 133-170
-
-
Hobbs, H.H.1
Russell, D.W.2
Brown, M.S.3
Goldstein, J.L.4
-
43
-
-
0037372175
-
In vitro unfolding, refolding, and polymerization of human γd crystallin, a protein involved in cataract formation
-
Kosinski-Collins, M. S., and King, J. (2003) In vitro unfolding, refolding, and polymerization of human γD crystallin, a protein involved in cataract formation. Protein Sci. 12, 480-490
-
(2003)
Protein Sci.
, vol.12
, pp. 480-490
-
-
Kosinski-Collins, M.S.1
King, J.2
-
44
-
-
65349135370
-
Drug development and the cellular quality control system
-
Conn, P. M., and Janovick, J. A. (2009) Drug development and the cellular quality control system. Trends Pharmacol. Sci. 30, 228-233
-
(2009)
Trends Pharmacol. Sci.
, vol.30
, pp. 228-233
-
-
Conn, P.M.1
Janovick, J.A.2
-
45
-
-
77949325574
-
Trafficking of G-protein-coupled receptors to the plasma membrane: Insights for pharmacoperone drugs
-
Conn, P. M., and Ulloa-Aguirre, A. (2010) Trafficking of G-protein-coupled receptors to the plasma membrane: insights for pharmacoperone drugs. Trends Endocrinol. Metab. 21, 190-197
-
(2010)
Trends Endocrinol. Metab.
, vol.21
, pp. 190-197
-
-
Conn, P.M.1
Ulloa-Aguirre, A.2
-
46
-
-
84891357083
-
Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy
-
Janovick, J. A., Stewart, M. D., Jacob, D., Martin, L. D., Deng, J. M., Stewart, C. A., Wang, Y., Cornea, A., Chavali, L., Lopez, S., Mitalipov, S., Kang, E., Lee, H. S., Manna, P. R., Stocco, D. M., Behringer, R. R., and Conn, P. M. (2013) Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy. Proc. Natl. Acad. Sci. U.S.A. 110, 21030-21035
-
(2013)
Proc. Natl. Acad. Sci. U.S.A.
, vol.110
, pp. 21030-21035
-
-
Janovick, J.A.1
Stewart, M.D.2
Jacob, D.3
Martin, L.D.4
Deng, J.M.5
Stewart, C.A.6
Wang, Y.7
Cornea, A.8
Chavali, L.9
Lopez, S.10
Mitalipov, S.11
Kang, E.12
Lee, H.S.13
Manna, P.R.14
Stocco, D.M.15
Behringer, R.R.16
Conn, P.M.17
|