-
1
-
-
33644869497
-
Inclusion-body myositis: A myodegenerative conformational disorder associated with Abeta, protein misfolding, and proteasome inhibition
-
Akanas V, Engel WK, (2006) Inclusion-body myositis: a myodegenerative conformational disorder associated with Abeta, protein misfolding, and proteasome inhibition. Neurology 66: S39-S48.
-
(2006)
Neurology
, vol.66
-
-
Akanas, V.1
Engel, W.K.2
-
2
-
-
0035746540
-
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
-
Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, et al, (2001) Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 3: 132-138.
-
(2001)
Genet Med
, vol.3
, pp. 132-138
-
-
Amalfitano, A.1
Bengur, A.R.2
Morse, R.P.3
Majure, J.M.4
Case, L.E.5
Veerling, D.L.6
-
3
-
-
62949116803
-
Lysosomal disorders: From storage to cellular damage
-
Ballabio A, Gieselmann V, (2009) Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta 1793: 684-696.
-
(2009)
Biochim Biophys Acta
, vol.1793
, pp. 684-696
-
-
Ballabio, A.1
Gieselmann, V.2
-
4
-
-
67949104883
-
Autophagy in tumour suppression and promotion
-
Brech A, Ahlquist T, Lothe RA, Stenmark H, (2009) Autophagy in tumour suppression and promotion. Mol Oncol 3: 366-375.
-
(2009)
Mol Oncol
, vol.3
, pp. 366-375
-
-
Brech, A.1
Ahlquist, T.2
Lothe, R.A.3
Stenmark, H.4
-
5
-
-
33745866310
-
Autophagic stress in neuronal injury and disease
-
DOI 10.1097/01.jnen.0000229233.75253.be, PII 0000507220060500000001
-
Chu CT, (2006) Autophagic stress in neuronal injury and disease. J Neuropathol Exp Neurol 65: 423-432. (Pubitemid 44297264)
-
(2006)
Journal of Neuropathology and Experimental Neurology
, vol.65
, Issue.5
, pp. 423-432
-
-
Chu, C.T.1
-
6
-
-
35848947235
-
Beclin 1-independent pathway of damage-induced mitophagy and autophagic stress: Implications for neurodegeneration and cell death
-
Chu CT, Zhu J, Dagda R, (2007) Beclin 1-independent pathway of damage-induced mitophagy and autophagic stress: implications for neurodegeneration and cell death. Autophagy 3: 663-666. (Pubitemid 350060074)
-
(2007)
Autophagy
, vol.3
, Issue.6
, pp. 663-666
-
-
Chu, C.T.1
Zhu, J.2
Dagda, R.3
-
7
-
-
0019378026
-
Lysosomal glycogen storage disease with normal acid maltase
-
Danon MJ, (1981) Lysosomal glycogen storage disease with normal acidic maltase. Neurology 31: 51-57. (Pubitemid 11217453)
-
(1981)
Neurology
, vol.31
, Issue.1
, pp. 51-57
-
-
Danon, M.J.1
Oh, S.J.2
DiMauro, S.3
-
8
-
-
34548611613
-
Glycogen storage disease type II: Clinical overview
-
Di Rocco M, Buzzi D, Tarò M, (2007) Glycogen storage disease type II: clinical overview. Acta Myol 26: 42-44. (Pubitemid 47400723)
-
(2007)
Acta Myologica
, vol.26
, Issue.1
, pp. 42-44
-
-
Di Rocco, M.1
Buzzi, D.2
Taro, M.3
-
9
-
-
34250822281
-
Chaperone-mediated autophagy
-
Dice JF, (2007) Chaperone-mediated autophagy. Autophagy 3: 295-299. (Pubitemid 46986334)
-
(2007)
Autophagy
, vol.3
, Issue.4
, pp. 295-299
-
-
Dice, J.F.1
-
10
-
-
0036735949
-
Role of LAMP-2 in lysosome biogenesis and autophagy
-
DOI 10.1091/mbc.E02-02-0114
-
Eskelinen EL, Illert AL, Tanaka Y, Schwarzmann G, Blanz J, Von Figura K, Saftig P, (2002) Role of LAMP-2 in lysosome biogenesis and autophagy. Mol Biol Cell 13: 3355-3368. (Pubitemid 35034269)
-
(2002)
Molecular Biology of the Cell
, vol.13
, Issue.9
, pp. 3355-3368
-
-
Eskelinen, E.-L.1
Illert, A.L.2
Tanaka, Y.3
Schwarzmann, G.4
Blanz, J.5
Von Figura, K.6
Saftig, P.7
-
11
-
-
0037334339
-
At the acidic edge: Emerging functions for lysosomal membrane proteins
-
DOI 10.1016/S0962-8924(03)00005-9
-
Eskelinen EL, Tanaka Y, Saftig P, (2003) At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol 13: 137-145. (Pubitemid 36293786)
-
(2003)
Trends in Cell Biology
, vol.13
, Issue.3
, pp. 137-145
-
-
Eskelinen, E.-L.1
Tanaka, Y.2
Saftig, P.3
-
12
-
-
3042760943
-
Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts
-
DOI 10.1091/mbc.E04-02-0103
-
Eskelinen EL, Schmidt CK, Neu S, Willenborg M, Fuertes G, Salvador N, et al, (2004) Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts. Mol Biol Cell 15: 3132-3145. (Pubitemid 38850111)
-
(2004)
Molecular Biology of the Cell
, vol.15
, Issue.7
, pp. 3132-3145
-
-
Eskelinen, E.-L.1
Schmidt, C.K.2
Neu, S.3
Willenborg, M.4
Fuertes, G.5
Salvador, N.6
Tanaka, Y.7
Lullmann-Rauch, R.8
Hartmann, D.9
Heeren, J.10
Von Figura, K.11
Knecht, E.12
Saftig, P.13
-
13
-
-
33751014016
-
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in pompe disease
-
DOI 10.1016/j.ymthe.2006.08.009, PII S1525001606016388
-
Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, et al, (2006) Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther 14: 831-839. (Pubitemid 44743133)
-
(2006)
Molecular Therapy
, vol.14
, Issue.6
, pp. 831-839
-
-
Fukuda, T.1
Ahearn, M.2
Roberts, A.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
Plotz, P.H.7
Raben, N.8
-
14
-
-
33645776188
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
-
Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N, (2006) Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 59: 700-708.
-
(2006)
Ann Neurol
, vol.59
, pp. 700-708
-
-
Fukuda, T.1
Ewan, L.2
Bauer, M.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
Plotz, P.H.7
Raben, N.8
-
15
-
-
33748413905
-
Autophagy and lysosomes in Pompe disease
-
Fukuda T, Roberts A, Ahearn M, Zaal K, Ralston E, Plotz PH, Raben N, (2006) Autophagy and lysosomes in Pompe disease. Autophagy 2: 318-320. (Pubitemid 44342381)
-
(2006)
Autophagy
, vol.2
, Issue.4
, pp. 318-320
-
-
Fukuda, T.1
Roberts, A.2
Ahearn, M.3
Zaal, K.4
Ralston, E.5
Plotz, P.H.6
Raben, N.7
-
16
-
-
15044356217
-
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
-
DOI 10.1093/brain/awh384
-
Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT, (2005) Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 128: 671-677. (Pubitemid 40380201)
-
(2005)
Brain
, vol.128
, Issue.3
, pp. 671-677
-
-
Hagemans, M.L.C.1
Winkel, L.P.F.2
Van Doorn, P.A.3
Hop, W.J.C.4
Loonen, M.C.B.5
Reuser, A.J.J.6
Van Der Ploeg, A.T.7
-
17
-
-
0347579841
-
Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II
-
DOI 10.1016/S0925-4439(02)00229-6
-
Hesselink RP, Waggenmakers AJM, Drost MR, Van der Vusse GJ, (2003) Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochem Biophys Acta 1637: 164-170. (Pubitemid 36287411)
-
(2003)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1637
, Issue.2
, pp. 164-170
-
-
Hesselink, R.P.1
Wagenmakers, A.J.M.2
Drost, M.R.3
Van Der Vusse, G.J.4
-
18
-
-
0000995321
-
Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
-
CRBA Scriver, W.S. Sly, D. Valle (eds), McGraw-Hill: New York.
-
Hirschhorn R, Reuser AJ, (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: The Metabolic and Molecular Bases of Inherited Disease., CRBA Scriver, WS Sly, D Valle, (eds), pp. 3389-3420. McGraw-Hill: New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3389-3420
-
-
Hirschhorn, R.1
Reuser, A.J.2
-
19
-
-
33846471307
-
LAMP proteins are required for fusion of lysosomes with phagosomes
-
DOI 10.1038/sj.emboj.7601511, PII 7601511
-
Huynh KK, Eskelinen EL, Scott CC, Malevanets A, Saftig P, Grinstein S, (2007) LAMP proteins are required for fusion of lysosomes with phagosomes. EMBO J 26: 313-324. (Pubitemid 46160933)
-
(2007)
EMBO Journal
, vol.26
, Issue.2
, pp. 313-324
-
-
Huynh, K.K.1
Eskelinen, E.-L.2
Scott, C.C.3
Malevanets, A.4
Saftig, P.5
Grinstein, S.6
-
20
-
-
0034329418
-
LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing
-
Kabeya Y, Mizushima N, Ueno T, Yamamoto A, Kirisako T, Noda T, et al, (2000) LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing. EMBO J 19: 5720-5728.
-
(2000)
EMBO J
, vol.19
, pp. 5720-5728
-
-
Kabeya, Y.1
Mizushima, N.2
Ueno, T.3
Yamamoto, A.4
Kirisako, T.5
Noda, T.6
-
21
-
-
0038015270
-
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement
-
Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, Nishino I, (2003) A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. Neurology 61: 128-131. (Pubitemid 36818765)
-
(2003)
Neurology
, vol.61
, Issue.1
, pp. 128-131
-
-
Kaneda, D.1
Sugie, K.2
Yamamoto, A.3
Matsumoto, H.4
Kato, T.5
Nonaka, I.6
Nishino, I.7
-
22
-
-
33846033132
-
Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease
-
DOI 10.1212/01.wnl.0000251268.41188.04, PII 0000611420070109000007
-
Kishnani PS, Corzo D, Nicolino M Byrne B, Mandel H, Hwu WL, Leslie N, et al, (2007) Recombinant human (alpha)-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68: 99-109. (Pubitemid 46071892)
-
(2007)
Neurology
, vol.68
, Issue.2
, pp. 99-109
-
-
Kishnani, P.S.1
Corzo, D.2
Nicolino, M.3
Byrne, B.4
Mandel, H.5
Hwu, W.L.6
Leslie, N.7
Levine, J.8
Spencer, C.9
McDonald, M.10
Li, J.11
Dumontier, J.12
Halberthal, M.13
Chien, Y.H.14
Hopkin, R.15
Vijayaraghavan, S.16
Gruskin, D.17
Bartholomew, D.18
Van Der Ploeg, A.19
Clancy, J.P.20
Parini, R.21
Morin, G.22
Beck, M.23
De La Gastine, G.S.24
Jokic, M.25
Thurberg, B.26
Richards, S.27
Bali, D.28
Davison, M.29
Worden, M.A.30
Chen, Y.T.31
Wraith, J.E.32
more..
-
23
-
-
49349090381
-
Lysosomes and oxidative stress in ageing and apoptosis
-
Kurz T, Terman A, Gustafson B, Brunk UT, (2008) Lysosomes and oxidative stress in ageing and apoptosis. Biochim Biophys Acta 1780: 1291-1303.
-
(2008)
Biochim Biophys Acta
, vol.1780
, pp. 1291-1303
-
-
Kurz, T.1
Terman, A.2
Gustafson, B.3
Brunk, U.T.4
-
24
-
-
34250826506
-
Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
-
Malicdan MC, Noguchi S, Nishino I, (2007) Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Autophagy 3: 396-398. (Pubitemid 46986355)
-
(2007)
Autophagy
, vol.3
, Issue.4
, pp. 396-398
-
-
Malicdan, M.C.V.1
Noguchi, S.2
Nishino, I.3
-
26
-
-
36249025723
-
Autophagy: Process and function
-
DOI 10.1101/gad.1599207
-
Mizushima N, (2007) Autophagy: process and function. Genes Dev 21: 2861-2873. (Pubitemid 350133435)
-
(2007)
Genes and Development
, vol.21
, Issue.22
, pp. 2861-2873
-
-
Mizushima, N.1
-
27
-
-
1542283812
-
In Vivo Analysis of Autophagy in Response to Nutrient Starvation Using Transgenic Mice Expressing a Fluorescent Autophagosome Marker
-
DOI 10.1091/mbc.E03-09-0704
-
Mizushima N, Yamamoto A, Matsui M, Yoshimori T, Ohsumi Y, (2004) In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker. Mol Biol Cell 15: 1101-1111. (Pubitemid 38316219)
-
(2004)
Molecular Biology of the Cell
, vol.15
, Issue.3
, pp. 1101-1111
-
-
Mizushima, N.1
Yamamoto, A.2
Matsui, M.3
Yoshimori, T.4
Ohsumi, Y.5
-
28
-
-
63449127241
-
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
-
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al, (2009) Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 11: 210-219.
-
(2009)
Genet Med
, vol.11
, pp. 210-219
-
-
Nicolino, M.1
Byrne, B.2
Wraith, J.E.3
Leslie, N.4
Mandel, H.5
Freyer, D.R.6
-
30
-
-
33749261091
-
Autophagic vacuolar myopathy
-
DOI 10.1016/j.spen.2006.06.004, PII S1071909106000945, Update in Hereditary Childhood Neuromuscular Diseases
-
Nishino I, (2006) Autophagic vacuolar myopathy. Semin Pediatr Neurol 13: 90-95. (Pubitemid 44486823)
-
(2006)
Seminars in Pediatric Neurology
, vol.13
, Issue.2
, pp. 90-95
-
-
Nishino, I.1
-
31
-
-
17044440789
-
Primary LAMP-2 deficiency causes X-linked vacoular cardiomyopathy and myopathy (Danon disease)
-
DOI 10.1038/35022604
-
Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, et al, (2000) Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406: 906-910. (Pubitemid 30664268)
-
(2000)
Nature
, vol.406
, Issue.6798
, pp. 906-910
-
-
Nishino, I.1
Fu, J.2
Tanji, K.3
Yamada, T.4
Shimojo, S.5
Koori, T.6
Mora, M.7
Riggs, J.E.8
Oh, S.J.9
Koga, Y.10
Sue, C.M.11
Yamamoto, A.12
Murakami, N.13
Shanske, S.14
Byrne, E.15
Bonilla, E.16
Honaka, I.17
DiMauro, S.18
Hirano, M.19
-
32
-
-
33344470900
-
Molecular pathomechanism of distal myopathy with rimmed vacuoles
-
Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S, (2005) Molecular pathomechanism of distal myopathy with rimmed vacuoles. Acta Myol 24: 80-83. (Pubitemid 43287341)
-
(2005)
Acta Myologica
, vol.24
, Issue.2
, pp. 80-83
-
-
Nishino, I.1
Malicdan, M.C.V.2
Murayama, K.3
Nonaka, I.4
Hayashi, Y.K.5
Noguchi, S.6
-
33
-
-
0019481203
-
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
-
DOI 10.1016/0022-510X(81)90067-8
-
Nonaka I, Sunohara N, Ishiura S, Satoyoshi E, (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 51: 141-155. (Pubitemid 11078511)
-
(1981)
Journal of the Neurological Sciences
, vol.51
, Issue.1
, pp. 141-155
-
-
Nonaka, I.1
Sunohara, N.2
Ishiura, S.3
Satoyoshi, E.4
-
34
-
-
33646915987
-
Ophthalmic manifestations of danon disease
-
DOI 10.1016/j.ophtha.2006.02.030, PII S0161642006002910
-
Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, et al, (2006) Ophthalmic manifestations of Danon disease. Ophthalmology 113: 1010-1013. (Pubitemid 43795242)
-
(2006)
Ophthalmology
, vol.113
, Issue.6
, pp. 1010-1013
-
-
Prall, F.R.1
Drack, A.2
Taylor, M.3
Ku, L.4
Olson, J.L.5
Gregory, D.6
Mestroni, L.7
Mandava, N.8
-
35
-
-
0036853028
-
Glycogen stored in skeletal but not in cardiac muscle in acid α-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme
-
DOI 10.1016/S1525-0016(02)90716-1
-
Raben N, Jatkar T, Lee A, Lu N, Dwivedi S, Nagaraju K, Glycogen PPH, (2002) stored in skeletal muscle but not in cardiac muscle in acid alpha glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme. Mol Ther 6: 601-608. (Pubitemid 35363692)
-
(2002)
Molecular Therapy
, vol.6
, Issue.5
, pp. 601-608
-
-
Raben, N.1
Jatkar, T.2
Lee, A.3
Lu, N.4
Dwivedi, S.5
Nagaraju, K.6
Plotz, P.H.7
-
36
-
-
0036086765
-
Acid α-glucosidase deficiency (glycogenosis type II, pompe disease)
-
Raben N, Plotz PH, Byrne BJ, (2002) Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2: 145-166. (Pubitemid 34649837)
-
(2002)
Current Molecular Medicine
, vol.2
, Issue.2
, pp. 145-166
-
-
Raben, N.1
Plotz, P.2
Byrne, B.J.3
-
37
-
-
34548621869
-
Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand
-
Raben N, Takikita S, Pittis MG, Bembi B, Marie SK, Roberts A, et al, (2007) Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Autophagy 3: 546-552. (Pubitemid 350060050)
-
(2007)
Autophagy
, vol.3
, Issue.6
, pp. 546-552
-
-
Raben, N.1
Takikita, S.2
Pittis, M.G.3
Bembi, B.4
Marie, S.K.N.5
Roberts, A.6
Page, L.7
Kishnani, P.S.8
Schoser, B.G.H.9
Chien, Y.-H.10
Ralston, E.11
Nagaraju, K.12
Plotz, P.H.13
-
38
-
-
57049094929
-
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
-
DOI 10.1093/hmg/ddn292
-
Raben N, Hill V, Shea L, Takikita S, Baum R, Suppression MN, (2008) of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease. Hum Mol Genet 17: 3897-3908. (Pubitemid 352762852)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.24
, pp. 3897-3908
-
-
Raben, N.1
Hill, V.2
Shea, L.3
Takikita, S.4
Baum, R.5
Mizushima, N.6
Ralston, E.7
Plotz, P.8
-
39
-
-
59649104665
-
Monitoring autophagy in lysosomal storage disorders
-
Raben N, Shea L, Hill V, Plotz PH, (2009) Monitoring autophagy in lysosomal storage disorders. Methods Enzymol 453: 417-449.
-
(2009)
Methods Enzymol
, vol.453
, pp. 417-449
-
-
Raben, N.1
Shea, L.2
Hill, V.3
Plotz, P.H.4
-
40
-
-
78649288882
-
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompei disease
-
Raben N, Schreiner C, Baum R, Takikita S, Xu S, Xie T, et al, (2010) Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompei disease. Autophagy 6: 1078-1089.
-
(2010)
Autophagy
, vol.6
, pp. 1078-1089
-
-
Raben, N.1
Schreiner, C.2
Baum, R.3
Takikita, S.4
Xu, S.5
Xie, T.6
-
41
-
-
33846959828
-
Retinopathy in Danon disease
-
Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL, (2007) Retinopathy in Danon disease. Arch Ophthalmol 125: 231-236.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 231-236
-
-
Schorderet, D.F.1
Cottet, S.2
Lobrinus, J.A.3
Borruat, F.X.4
Balmer, A.5
Munier, F.L.6
-
42
-
-
8344242220
-
Autophagy in health and disease: A double-edged sword
-
DOI 10.1126/science.1099993
-
Shintani T, Klionsky DJ, (2004) Autophagy in health and disease: a double-edged sword. Science 306: 990-995. (Pubitemid 39482894)
-
(2004)
Science
, vol.306
, Issue.5698
, pp. 990-995
-
-
Shintani, T.1
Klionsky, D.J.2
-
43
-
-
0014094248
-
Muscular form of glycogenosis, type II (Pompe)
-
Smith J, Zellweger H, Afifi AK, (1967) Muscular form of glycogenosis, type II (Pompe). Neurology 17: 537-549.
-
(1967)
Neurology
, vol.17
, pp. 537-549
-
-
Smith, J.1
Zellweger, H.2
Afifi, A.K.3
-
44
-
-
33745245093
-
LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling
-
DOI 10.1007/s00395-006-0591-6
-
Stypmann J, Janssen PM, Prestle J, Engelen MA, Kögler H, Lüllmann-Rauch R, et al, (2006) LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling. Basic Res Cardiol 101: 281-291. (Pubitemid 43923384)
-
(2006)
Basic Research in Cardiology
, vol.101
, Issue.4
, pp. 281-291
-
-
Stypmann, J.1
Janssen, P.M.L.2
Prestle, J.3
Engelen, M.A.4
Kogler, H.5
Lullmann-Rauch, R.6
Eckardt, L.7
Von Figura, K.8
Landgrebe, J.9
Mleczko, A.10
Saftig, P.11
-
45
-
-
0037172851
-
Clinicopathological features of genetically confirmed Danon disease
-
Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, et al, (2002) Clinicopathological features of genetically confirmed Danon disease. Neurology 58: 1773-1778. (Pubitemid 34663577)
-
(2002)
Neurology
, vol.58
, Issue.12
, pp. 1773-1778
-
-
Sugie, K.1
Yamamoto, A.2
Murayama, K.3
Oh, S.J.4
Takahashi, M.5
Mora, M.6
Riggs, J.E.7
Colomer, J.8
Iturriaga, C.9
Meloni, A.10
Lamperti, C.11
Saitoh, S.12
Byrne, E.13
DiMauro, S.14
Nonaka, I.15
Hirano, M.16
Nishino, I.17
-
46
-
-
20344406224
-
Autophagic vacuoles with sarcolemmal features delineate danon disease and related myopathies
-
Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, et al, (2005) Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol 64: 513-522. (Pubitemid 40781154)
-
(2005)
Journal of Neuropathology and Experimental Neurology
, vol.64
, Issue.6
, pp. 513-522
-
-
Sugie, K.1
Noguchi, S.2
Kozuka, Y.3
Arikawa-Hirasawa, E.4
Tanaka, M.5
Yan, C.6
Saftig, P.7
Von Figura, K.8
Hirano, M.9
Ueno, S.10
Nonaka, I.11
Nishino, I.12
-
47
-
-
19244384656
-
Accumulation of autophagic vacuoles and cardiomyopathy LAMP-2-deficient mice
-
DOI 10.1038/35022595
-
Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lüllmann-Rauch R, et al, (2000) Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 406: 902-906. (Pubitemid 30664267)
-
(2000)
Nature
, vol.406
, Issue.6798
, pp. 902-906
-
-
Tanaka, Y.1
Guhde, G.2
Suter, A.3
Eskelinen, E.-L.4
Hartmann, D.5
Lullmann-Rauch, R.6
Janssen, P.M.L.7
Blanz, J.8
Von Figura, K.9
Saftig, P.10
-
48
-
-
0038309329
-
The molecular mechanism of autophagy
-
Wang CW, Klionsky DJ, (2003) The molecular mechanism of autophagy. Mol Med 9: 65-76. (Pubitemid 36819962)
-
(2003)
Molecular Medicine
, vol.9
, Issue.3-4
, pp. 65-76
-
-
Wang, C.-W.1
Klionsky, D.J.2
-
49
-
-
77952409809
-
Mitochondrial dysfunction and oxidative stress mediate the physiologic impairment induced by the disruption of autophagy
-
Wu JJ, Quijano C, Chen E, Liu H, Cao L, Fergusson MM, (2009) Mitochondrial dysfunction and oxidative stress mediate the physiologic impairment induced by the disruption of autophagy. Aging (Albany NY) 1: 425-437.
-
(2009)
Aging (Albany NY)
, vol.1
, pp. 425-437
-
-
Wu, J.J.1
Quijano, C.2
Chen, E.3
Liu, H.4
Cao, L.5
Fergusson, M.M.6
-
50
-
-
65849127844
-
Abberant α-synuclein confers toxicity to neurons in part through inhibition of chaperone-mediated autophagy
-
Xilouri M, Vogiatzi T, Vekrellis K, Park D, Stefanis L, (2009) Abberant α-synuclein confers toxicity to neurons in part through inhibition of chaperone-mediated autophagy. PLoS ONE 4: e5515.
-
(2009)
PLoS ONE
, vol.4
-
-
Xilouri, M.1
Vogiatzi, T.2
Vekrellis, K.3
Park, D.4
Stefanis, L.5
-
51
-
-
26444512662
-
A new congenital form of X-linked autophagic vacuolar myopathy
-
DOI 10.1212/01.wnl.0000178979.19887.f5
-
Yan C, Tanaka M, Sugie K, et al, (2005) A new congenital form of X-linked autophagic vacuolar myopathy. Neurology 65: 1132-1134. (Pubitemid 41429652)
-
(2005)
Neurology
, vol.65
, Issue.7
, pp. 1132-1134
-
-
Yan, C.1
Tanaka, M.2
Sugie, K.3
Nobutoki, T.4
Woo, M.5
Murase, N.6
Higuchi, Y.7
Noguchi, S.8
Nonaka, I.9
Hayashi, Y.K.10
Nishino, I.11
-
52
-
-
27644484061
-
Autophagy: Molecular machinery for self-eating
-
DOI 10.1038/sj.cdd.4401765, PII 4401765
-
Yorimitsu T, Klionsky DJ, (2005) Autophagy: molecular machinery for self-eating. Cell Death Differ 12 (Suppl. 2): 1542-1552. (Pubitemid 41553991)
-
(2005)
Cell Death and Differentiation
, vol.12
, Issue.SUPPL. 2
, pp. 1542-1552
-
-
Yorimitsu, T.1
Klionsky, D.J.2
|