-
1
-
-
77955155274
-
Glycogen storage disease type III diagnosis and management guidelines
-
1:CAS:528:DC%2BC3cXovFersr8%3D
-
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R et al (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med Off J Am Coll Med Genet 12:446-463
-
(2010)
Genet Med off J Am Coll Med Genet
, vol.12
, pp. 446-463
-
-
Kishnani, P.S.1
Austin, S.L.2
Arn, P.3
Bali, D.S.4
Boney, A.5
Case, L.E.6
Chung, W.K.7
Desai, D.M.8
El-Gharbawy, A.9
Haller, R.10
-
2
-
-
0000171986
-
Glycogen storage diseases
-
D. Valle A. Beaudet B. Vogelstein K. Kinzler S. Antonarakis A. Ballabio (eds) McGraw-Hill New York
-
Chen YT, Kishnani PS, Koeberl DD (2009) Glycogen storage diseases. In: Valle D, Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A (eds) Scriver's online metabolic & molecular bases of inherited disease. McGraw-Hill, New York
-
(2009)
Scriver's Online Metabolic & Molecular Bases of Inherited Disease
-
-
Chen, Y.T.1
Kishnani, P.S.2
Koeberl, D.D.3
-
3
-
-
33846617279
-
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
-
1:CAS:528:DC%2BD2sXhtlCmtbs%3D 2683272 17196294 10.1016/j.jhep.2006.09. 022
-
Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS (2007) Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol 46:492-498
-
(2007)
J Hepatol
, vol.46
, pp. 492-498
-
-
Demo, E.1
Frush, D.2
Gottfried, M.3
Koepke, J.4
Boney, A.5
Bali, D.6
Chen, Y.T.7
Kishnani, P.S.8
-
4
-
-
30944467411
-
Type III glycogen storage disease associated with hepatocellular carcinoma
-
1:STN:280:DC%2BD2MnosFeltw%3D%3D 16373012 10.1016/S0210-5705(05)71526-0
-
Cosme A, Montalvo I, Sanchez J, Ojeda E, Torrado J, Zapata E, Bujanda L, Gutierrez A, Arenas I (2005) Type III glycogen storage disease associated with hepatocellular carcinoma. Gastroenterol Hepatol 28:622-625
-
(2005)
Gastroenterol Hepatol
, vol.28
, pp. 622-625
-
-
Cosme, A.1
Montalvo, I.2
Sanchez, J.3
Ojeda, E.4
Torrado, J.5
Zapata, E.6
Bujanda, L.7
Gutierrez, A.8
Arenas, I.9
-
5
-
-
0031056445
-
Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group
-
1:STN:280:DyaK2s3gtFCjug%3D%3D 9049194 10.1002/hep.510250307
-
Haagsma EB, Smit GP, Niezen-Koning KE, Gouw AS, Meerman L, Slooff MJ (1997) Type IIIb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. The Liver Transplant Group. Hepatology 25:537-540
-
(1997)
Hepatology
, vol.25
, pp. 537-540
-
-
Haagsma, E.B.1
Smit, G.P.2
Niezen-Koning, K.E.3
Gouw, A.S.4
Meerman, L.5
Slooff, M.J.6
-
6
-
-
0027057809
-
Glycogen debranching enzyme deficiency: Long-term study of serum enzyme activities and clinical features
-
1:STN:280:DyaK3s7ovVCjtQ%3D%3D 1293383 10.1007/BF01800225
-
Coleman RA, Winter HS, Wolf B, Chen YT (1992) Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 15:869-881
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 869-881
-
-
Coleman, R.A.1
Winter, H.S.2
Wolf, B.3
Chen, Y.T.4
-
7
-
-
34548637364
-
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
-
Lucchiari S, Santoro D, Pagliarani S, Comi GP (2007) Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency. Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology/edited by the Gaetano Conte Academy for the study of striated muscle diseases 26:72-74
-
(2007)
Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology/edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases
, vol.26
, pp. 72-74
-
-
Lucchiari, S.1
Santoro, D.2
Pagliarani, S.3
Comi, G.P.4
-
8
-
-
0026589843
-
Glycogen storage disease type III with muscle involvement: Reappraisal of phenotypic variability and prognosis
-
1:STN:280:DyaK38zjslSnsA%3D%3D 1632441 10.1002/ajmg.1320420514
-
Momoi T, Sano H, Yamanaka C, Sasaki H, Mikawa H (1992) Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis. Am J Med Genet 42:696-699
-
(1992)
Am J Med Genet
, vol.42
, pp. 696-699
-
-
Momoi, T.1
Sano, H.2
Yamanaka, C.3
Sasaki, H.4
Mikawa, H.5
-
9
-
-
0015380392
-
Gross cardiac involvement in glycogen storage disease type 3
-
1:STN:280:DyaE3s%2FgtlWgtQ%3D%3D 486995 4262699 10.1136/hrt.34.8.862
-
Miller CG, Alleyne GA, Brooks SE (1972) Gross cardiac involvement in glycogen storage disease type 3. Br Heart J 34:862-864
-
(1972)
Br Heart J
, vol.34
, pp. 862-864
-
-
Miller, C.G.1
Alleyne, G.A.2
Brooks, S.E.3
-
10
-
-
0021367603
-
Cardiac involvement in glycogen storage disease III: Morphologic and biochemical characterization with endomyocardial biopsy
-
1:STN:280:DyaL2c7ltVGqsg%3D%3D 6584026 10.1016/0002-9149(84)90551-4
-
Olson LJ, Reeder GS, Noller KL, Edwards WD, Howell RR, Michels VV (1984) Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol 53:980-981
-
(1984)
Am J Cardiol
, vol.53
, pp. 980-981
-
-
Olson, L.J.1
Reeder, G.S.2
Noller, K.L.3
Edwards, W.D.4
Howell, R.R.5
Michels, V.V.6
-
11
-
-
0024383299
-
Cardiac involvement in glycogen storage disease type III
-
1:STN:280:DyaK3c%2FgsFGhtw%3D%3D 2792130 10.1007/BF00443106
-
Moses SW, Wanderman KL, Myroz A, Frydman M (1989) Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 148:764-766
-
(1989)
Eur J Pediatr
, vol.148
, pp. 764-766
-
-
Moses, S.W.1
Wanderman, K.L.2
Myroz, A.3
Frydman, M.4
-
12
-
-
0030945233
-
Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III
-
1:STN:280:DyaK2s3itl2qtw%3D%3D 9070576 10.1016/S0002-9149(96)00885-5
-
Lee PJ, Deanfield JE, Burch M, Baig K, McKenna WJ, Leonard JV (1997) Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. Am J Cardiol 79:834-838
-
(1997)
Am J Cardiol
, vol.79
, pp. 834-838
-
-
Lee, P.J.1
Deanfield, J.E.2
Burch, M.3
Baig, K.4
McKenna, W.J.5
Leonard, J.V.6
-
13
-
-
84870017723
-
Characterization of a canine model of glycogen storage disease type IIIas
-
doi: 10.1242/dmm.009712
-
Yi H, Thurberg BL, Curtis S, Austin S, Fyfe J, Koeberl DD, Kishnani PS, Sun B (2012) Characterization of a canine model of glycogen storage disease type IIIa. Dis Model Mech 5:804-811. doi: 10.1242/dmm.009712
-
(2012)
Dis Model Mech
, vol.5
, pp. 804-811
-
-
Yi, H.1
Thurberg, B.L.2
Curtis, S.3
Austin, S.4
Fyfe, J.5
Koeberl, D.D.6
Kishnani, P.S.7
Sun, B.8
-
14
-
-
78649348967
-
Regulation of the mTOR complex 1 pathway by nutrients, growth factors, and stress
-
1:CAS:528:DC%2BC3cXhtlCjtr%2FO 2993060 20965424 10.1016/j.molcel.2010.09. 026
-
Sengupta S, Peterson TR, Sabatini DM (2010) Regulation of the mTOR complex 1 pathway by nutrients, growth factors, and stress. Mol Cell 40:310-322
-
(2010)
Mol Cell
, vol.40
, pp. 310-322
-
-
Sengupta, S.1
Peterson, T.R.2
Sabatini, D.M.3
-
15
-
-
77749237077
-
MTOR inhibitor/proliferation signal inhibitors: Entering or leaving the field?
-
1:CAS:528:DC%2BC3MXovVCnsbw%3D 20155724
-
Rostaing L, Kamar N (2010) mTOR inhibitor/proliferation signal inhibitors: entering or leaving the field? J Nephrol 23:133-142
-
(2010)
J Nephrol
, vol.23
, pp. 133-142
-
-
Rostaing, L.1
Kamar, N.2
-
16
-
-
63749105226
-
MTOR and the control of whole body metabolism
-
1:CAS:528:DC%2BD1MXksVClu70%3D 19261457 10.1016/j.ceb.2009.01.024
-
Polak P, Hall MN (2009) mTOR and the control of whole body metabolism. Curr Opin Cell Biol 21:209-218
-
(2009)
Curr Opin Cell Biol
, vol.21
, pp. 209-218
-
-
Polak, P.1
Hall, M.N.2
-
17
-
-
33846569938
-
Targeting mammalian target of rapamycin (mTOR) for health and diseases
-
1:CAS:528:DC%2BD2sXhtleisb4%3D 17275731 10.1016/j.drudis.2006.12.008
-
Tsang CK, Qi H, Liu LF, Zheng XF (2007) Targeting mammalian target of rapamycin (mTOR) for health and diseases. Drug Discov Today 12:112-124
-
(2007)
Drug Discov Today
, vol.12
, pp. 112-124
-
-
Tsang, C.K.1
Qi, H.2
Liu, L.F.3
Zheng, X.F.4
-
18
-
-
59749101669
-
MTOR: Dissecting regulation and mechanism of action to understand human disease
-
1:CAS:528:DC%2BD1MXotVWmuw%3D%3D 2639772 19143634 10.1042/BST0370213
-
Goberdhan DC, Boyd CA (2009) mTOR: dissecting regulation and mechanism of action to understand human disease. Biochem Soc Trans 37:213-216
-
(2009)
Biochem Soc Trans
, vol.37
, pp. 213-216
-
-
Goberdhan, D.C.1
Boyd, C.A.2
-
19
-
-
82555166000
-
MTOR signaling in disease
-
1:CAS:528:DC%2BC3MXhsFOhurnP 21963299 10.1016/j.ceb.2011.09.003
-
Dazert E, Hall MN (2011) mTOR signaling in disease. Curr Opin Cell Biol 23:744-755
-
(2011)
Curr Opin Cell Biol
, vol.23
, pp. 744-755
-
-
Dazert, E.1
Hall, M.N.2
-
20
-
-
35248820393
-
Rapamycin-mediated inhibition of mammalian target of rapamycin in skeletal muscle cells reduces glucose utilization and increases fatty acid oxidation
-
1:CAS:528:DC%2BD28Xht1Kns7%2FJ 17142137 10.1016/j.metabol.2006.08.002
-
Sipula IJ, Brown NF, Perdomo G (2006) Rapamycin-mediated inhibition of mammalian target of rapamycin in skeletal muscle cells reduces glucose utilization and increases fatty acid oxidation. Metab Clin Exp 55:1637-1644
-
(2006)
Metab Clin Exp
, vol.55
, pp. 1637-1644
-
-
Sipula, I.J.1
Brown, N.F.2
Perdomo, G.3
-
21
-
-
40049086403
-
Long-term effects of rapamycin treatment on insulin mediated phosphorylation of Akt/PKB and glycogen synthase activity
-
1:CAS:528:DC%2BD1cXivFylsLg%3D 18261725 10.1016/j.yexcr.2007.12.019
-
Varma S, Shrivastav A, Changela S, Khandelwal RL (2008) Long-term effects of rapamycin treatment on insulin mediated phosphorylation of Akt/PKB and glycogen synthase activity. Exp Cell Res 314:1281-1291
-
(2008)
Exp Cell Res
, vol.314
, pp. 1281-1291
-
-
Varma, S.1
Shrivastav, A.2
Changela, S.3
Khandelwal, R.L.4
-
22
-
-
77954659191
-
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
-
1:CAS:528:DC%2BC3cXovFymtrw%3D 20554235 10.1016/j.ymgme.2010.05.001
-
Ashe KM, Taylor KM, Chu Q, Meyers E, Ellis A, Jingozyan V, Klinger K, Finn PF, Cooper CG, Chuang WL et al (2010) Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease. Mol Genet Metab 100:309-315
-
(2010)
Mol Genet Metab
, vol.100
, pp. 309-315
-
-
Ashe, K.M.1
Taylor, K.M.2
Chu, Q.3
Meyers, E.4
Ellis, A.5
Jingozyan, V.6
Klinger, K.7
Finn, P.F.8
Cooper, C.G.9
Chuang, W.L.10
-
23
-
-
79960440859
-
Potent antifibrotic activity of mTOR inhibitors sirolimus and everolimus but not of cyclosporine A and tacrolimus in experimental liver fibrosis
-
1:CAS:528:DC%2BC3MXptFahsrc%3D 21168455 10.1016/j.jhep.2010.10.044
-
Patsenker E, Schneider V, Ledermann M, Saegesser H, Dorn C, Hellerbrand C, Stickel F (2011) Potent antifibrotic activity of mTOR inhibitors sirolimus and everolimus but not of cyclosporine A and tacrolimus in experimental liver fibrosis. J Hepatol 55:388-398
-
(2011)
J Hepatol
, vol.55
, pp. 388-398
-
-
Patsenker, E.1
Schneider, V.2
Ledermann, M.3
Saegesser, H.4
Dorn, C.5
Hellerbrand, C.6
Stickel, F.7
-
24
-
-
70350532016
-
Rapamycin inhibits hepatic fibrosis in rats by attenuating multiple profibrogenic pathways
-
Bridle KR, Popa C, Morgan ML, Sobbe AL, Clouston AD, Fletcher LM, Crawford DH (2009) Rapamycin inhibits hepatic fibrosis in rats by attenuating multiple profibrogenic pathways. Liver Transplant Off Publ Am Assoc Study Liver Dis Int Liver Transplant Soc 15:1315-1324
-
(2009)
Liver Transplant off Publ Am Assoc Study Liver Dis Int Liver Transplant Soc
, vol.15
, pp. 1315-1324
-
-
Bridle, K.R.1
Popa, C.2
Morgan, M.L.3
Sobbe, A.L.4
Clouston, A.D.5
Fletcher, L.M.6
Crawford, D.H.7
-
25
-
-
33750433893
-
Low-dose oral rapamycin treatment reduces fibrogenesis, improves liver function, and prolongs survival in rats with established liver cirrhosis
-
1:CAS:528:DC%2BD28XhtFeqtLrO 17050028 10.1016/j.jhep.2006.07.030
-
Neef M, Ledermann M, Saegesser H, Schneider V, Reichen J (2006) Low-dose oral rapamycin treatment reduces fibrogenesis, improves liver function, and prolongs survival in rats with established liver cirrhosis. J Hepatol 45:786-796
-
(2006)
J Hepatol
, vol.45
, pp. 786-796
-
-
Neef, M.1
Ledermann, M.2
Saegesser, H.3
Schneider, V.4
Reichen, J.5
-
26
-
-
19444366644
-
Long-term treatment of bile duct-ligated rats with rapamycin (sirolimus) significantly attenuates liver fibrosis: Analysis of the underlying mechanisms
-
1:CAS:528:DC%2BD2MXkslektr0%3D 15769867 10.1124/jpet.104.079616
-
Biecker E, De Gottardi A, Neef M, Unternahrer M, Schneider V, Ledermann M, Sagesser H, Shaw S, Reichen J (2005) Long-term treatment of bile duct-ligated rats with rapamycin (sirolimus) significantly attenuates liver fibrosis: analysis of the underlying mechanisms. J Pharmacol Exp Ther 313:952-961
-
(2005)
J Pharmacol Exp Ther
, vol.313
, pp. 952-961
-
-
Biecker, E.1
De Gottardi, A.2
Neef, M.3
Unternahrer, M.4
Schneider, V.5
Ledermann, M.6
Sagesser, H.7
Shaw, S.8
Reichen, J.9
-
27
-
-
0032738763
-
Rapamycin inhibits hepatic stellate cell proliferation in vitro and limits fibrogenesis in an in vivo model of liver fibrosis
-
1:CAS:528:DyaK1MXnsVCqtrk%3D 10535884 10.1016/S0016-5085(99)70406-3
-
Zhu J, Wu J, Frizell E, Liu SL, Bashey R, Rubin R, Norton P, Zern MA (1999) Rapamycin inhibits hepatic stellate cell proliferation in vitro and limits fibrogenesis in an in vivo model of liver fibrosis. Gastroenterology 117:1198-1204
-
(1999)
Gastroenterology
, vol.117
, pp. 1198-1204
-
-
Zhu, J.1
Wu, J.2
Frizell, E.3
Liu, S.L.4
Bashey, R.5
Rubin, R.6
Norton, P.7
Zern, M.A.8
-
28
-
-
84873060132
-
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III
-
1:CAS:528:DC%2BC3sXnvFegsA%3D%3D 23318145 10.1016/j.ymgme.2012.12.002
-
Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS (2013) Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. Mol Genet Metab 108:145-147
-
(2013)
Mol Genet Metab
, vol.108
, pp. 145-147
-
-
Sun, B.1
Fredrickson, K.2
Austin, S.3
Tolun, A.A.4
Thurberg, B.L.5
Kraus, W.E.6
Bali, D.7
Chen, Y.T.8
Kishnani, P.S.9
-
29
-
-
12344325056
-
High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology
-
1:CAS:528:DC%2BD2MXot12gtg%3D%3D 10.1177/002215540505300108
-
Lynch CM, Johnson J, Vaccaro C, Thurberg BL (2005) High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology. J Histochem Cytochem Off J Histochem Soc 53:63-73
-
(2005)
J Histochem Cytochem off J Histochem Soc
, vol.53
, pp. 63-73
-
-
Lynch, C.M.1
Johnson, J.2
Vaccaro, C.3
Thurberg, B.L.4
-
30
-
-
57049089893
-
Modulation of glycogen synthesis by RNA interference: Towards a new therapeutic approach for glycogenosis type II
-
1:CAS:528:DC%2BD1cXhsVeqsrzM 18782850 10.1093/hmg/ddn290
-
Douillard-Guilloux G, Raben N, Takikita S, Batista L, Caillaud C, Richard E (2008) Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II. Hum Mol Genet 17:3876-3886
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3876-3886
-
-
Douillard-Guilloux, G.1
Raben, N.2
Takikita, S.3
Batista, L.4
Caillaud, C.5
Richard, E.6
-
31
-
-
36448940798
-
FoxO3 controls autophagy in skeletal muscle in vivo
-
1:CAS:528:DC%2BD2sXhsVektb%2FN 18054315 10.1016/j.cmet.2007.11.001
-
Mammucari C, Milan G, Romanello V, Masiero E, Rudolf R, Del Piccolo P, Burden SJ, Di Lisi R, Sandri C, Zhao J et al (2007) FoxO3 controls autophagy in skeletal muscle in vivo. Cell Metab 6:458-471
-
(2007)
Cell Metab
, vol.6
, pp. 458-471
-
-
Mammucari, C.1
Milan, G.2
Romanello, V.3
Masiero, E.4
Rudolf, R.5
Del Piccolo, P.6
Burden, S.J.7
Di Lisi, R.8
Sandri, C.9
Zhao, J.10
-
32
-
-
79959761278
-
Regulation of autophagy by kinases
-
1:CAS:528:DC%2BC3MXns1Siu7c%3D 3757434 24212825 10.3390/cancers3022630
-
Sridharan S, Jain K, Basu A (2011) Regulation of autophagy by kinases. Cancers 3:2630-2654
-
(2011)
Cancers
, vol.3
, pp. 2630-2654
-
-
Sridharan, S.1
Jain, K.2
Basu, A.3
-
33
-
-
0037099007
-
Hepatic fibrosis - Role of hepatic stellate cell activation
-
10.1002/jgm.242
-
Safadi R, Friedman SL (2002) Hepatic fibrosis - role of hepatic stellate cell activation. Med Gen Med 4:27
-
(2002)
Med Gen Med
, vol.4
, pp. 27
-
-
Safadi, R.1
Friedman, S.L.2
-
34
-
-
79954487874
-
Mechanisms of hepatic fibrogenesis
-
1:CAS:528:DC%2BC3MXkvVWhsbs%3D 3079877 21497738 10.1016/j.bpg.2011.02.005
-
Lee UE, Friedman SL (2011) Mechanisms of hepatic fibrogenesis. Best Pract Res Clin Gastroenterol 25:195-206
-
(2011)
Best Pract Res Clin Gastroenterol
, vol.25
, pp. 195-206
-
-
Lee, U.E.1
Friedman, S.L.2
|