-
1
-
-
0019481203
-
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
-
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.
-
(1981)
J Neurol Sci
, vol.51
, pp. 141-155
-
-
Nonaka, I.1
Sunohara, N.2
Ishiura, S.3
Satoyoshi, E.4
-
2
-
-
0021320516
-
"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews
-
Argov Z, Yarom R, (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 64: 33-43.
-
(1984)
J Neurol Sci
, vol.64
, pp. 33-43
-
-
Argov, Z.1
Yarom, R.2
-
3
-
-
17944366749
-
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
-
Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 29: 83-87.
-
(2001)
Nat Genet
, vol.29
, pp. 83-87
-
-
Eisenberg, I.1
Avidan, N.2
Potikha, T.3
Hochner, H.4
Chen, M.5
-
4
-
-
0036217154
-
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
-
Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, et al. (2002) Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 47: 77-79.
-
(2002)
J Hum Genet
, vol.47
, pp. 77-79
-
-
Kayashima, T.1
Matsuo, H.2
Satoh, A.3
Ohta, T.4
Yoshiura, K.5
-
5
-
-
0030827890
-
A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase
-
Stasche R, Hinderlich S, Weise C, Effertz K, Lucka L, et al. (1997) A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 272: 24319-24324.
-
(1997)
J Biol Chem
, vol.272
, pp. 24319-24324
-
-
Stasche, R.1
Hinderlich, S.2
Weise, C.3
Effertz, K.4
Lucka, L.5
-
6
-
-
0030993576
-
Sialic acids as ligands in recognition phenomena
-
Varki A, (1997) Sialic acids as ligands in recognition phenomena. Faseb J 11: 248-255.
-
(1997)
Faseb J
, vol.11
, pp. 248-255
-
-
Varki, A.1
-
7
-
-
12144287262
-
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
-
Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, et al. (2004) Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 279: 11402-11407.
-
(2004)
J Biol Chem
, vol.279
, pp. 11402-11407
-
-
Noguchi, S.1
Keira, Y.2
Murayama, K.3
Ogawa, M.4
Fujita, M.5
-
8
-
-
1242292943
-
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations
-
Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, et al. (2004) Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab 81: 196-202.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 196-202
-
-
Huizing, M.1
Rakocevic, G.2
Sparks, S.E.3
Mamali, I.4
Shatunov, A.5
-
9
-
-
20244374708
-
Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins
-
Tajima Y, Uyama E, Go S, Sato C, Tao N, et al. (2005) Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. Am J Pathol 166: 1121-1130.
-
(2005)
Am J Pathol
, vol.166
, pp. 1121-1130
-
-
Tajima, Y.1
Uyama, E.2
Go, S.3
Sato, C.4
Tao, N.5
-
10
-
-
13444262055
-
alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy
-
Broccolini A, Gliubizzi C, Pavoni E, Gidaro T, Morosetti R, et al. (2005) alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy. Neuromuscul Disord 15: 177-184.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 177-184
-
-
Broccolini, A.1
Gliubizzi, C.2
Pavoni, E.3
Gidaro, T.4
Morosetti, R.5
-
11
-
-
0036797633
-
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms
-
Askanas V, Engel WK, (2002) Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol 15: 525-531.
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 525-531
-
-
Askanas, V.1
Engel, W.K.2
-
12
-
-
0037197835
-
Inclusion body myositis-like phenotype induced by transgenic overexpression of beta APP in skeletal muscle
-
Sugarman MC, Yamasaki TR, Oddo S, Echegoyen JC, Murphy MP, et al. (2002) Inclusion body myositis-like phenotype induced by transgenic overexpression of beta APP in skeletal muscle. Proc Natl Acad Sci U S A 99: 6334-6339.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 6334-6339
-
-
Sugarman, M.C.1
Yamasaki, T.R.2
Oddo, S.3
Echegoyen, J.C.4
Murphy, M.P.5
-
13
-
-
79955506304
-
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles
-
Li H, Chen Q, Liu F, Zhang X, Liu T,et al. Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet 56: 335-338.
-
J Hum Genet
, vol.56
, pp. 335-338
-
-
Li, H.1
Chen, Q.2
Liu, F.3
Zhang, X.4
Liu, T.5
-
14
-
-
24144489814
-
Proteasome inhibition and aggresome formation in sporadic inclusion-body myositis and in amyloid-beta precursor protein-overexpressing cultured human muscle fibers
-
Fratta P, Engel WK, McFerrin J, Davies KJ, Lin SW, et al. (2005) Proteasome inhibition and aggresome formation in sporadic inclusion-body myositis and in amyloid-beta precursor protein-overexpressing cultured human muscle fibers. Am J Pathol 167: 517-526.
-
(2005)
Am J Pathol
, vol.167
, pp. 517-526
-
-
Fratta, P.1
Engel, W.K.2
McFerrin, J.3
Davies, K.J.4
Lin, S.W.5
-
15
-
-
35548931584
-
Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events
-
Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, et al. (2007) Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. Cell Death Differ 14: 1916-1924.
-
(2007)
Cell Death Differ
, vol.14
, pp. 1916-1924
-
-
Amsili, S.1
Shlomai, Z.2
Levitzki, R.3
Krause, S.4
Lochmuller, H.5
-
16
-
-
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.
-
(2007)
Autophagy
, vol.3
, pp. 396-398
-
-
Malicdan, M.C.1
Noguchi, S.2
Nishino, I.3
-
17
-
-
0032150412
-
Proteasomes in distal myopathy with rimmed vacuoles
-
Kumamoto T, Fujimoto S, Nagao S, Masuda T, Sugihara R, et al. (1998) Proteasomes in distal myopathy with rimmed vacuoles. Intern Med 37: 746-752.
-
(1998)
Intern Med
, vol.37
, pp. 746-752
-
-
Kumamoto, T.1
Fujimoto, S.2
Nagao, S.3
Masuda, T.4
Sugihara, R.5
-
18
-
-
64449088789
-
Amyloid-beta42 is preferentially accumulated in muscle fibers of patients with sporadic inclusion-body myositis
-
Vattemi G, Nogalska A, King Engel W, D'Agostino C, Checler F, et al. (2009) Amyloid-beta42 is preferentially accumulated in muscle fibers of patients with sporadic inclusion-body myositis. Acta Neuropathol 117: 569-574.
-
(2009)
Acta Neuropathol
, vol.117
, pp. 569-574
-
-
Vattemi, G.1
Nogalska, A.2
King Engel, W.3
D'Agostino, C.4
Checler, F.5
-
19
-
-
1542784578
-
Endoplasmic reticulum stress and unfolded protein response in inclusion body myositis muscle
-
Vattemi G, Engel WK, McFerrin J, Askanas V, (2004) Endoplasmic reticulum stress and unfolded protein response in inclusion body myositis muscle. Am J Pathol 164: 1-7.
-
(2004)
Am J Pathol
, vol.164
, pp. 1-7
-
-
Vattemi, G.1
Engel, W.K.2
McFerrin, J.3
Askanas, V.4
-
20
-
-
35549010650
-
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
-
Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I, (2007) A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 16: 2669-2682.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2669-2682
-
-
Malicdan, M.C.1
Noguchi, S.2
Nonaka, I.3
Hayashi, Y.K.4
Nishino, I.5
-
21
-
-
0033780610
-
A regulatory link between ER-associated protein degradation and the unfolded-protein response
-
Friedlander R, Jarosch E, Urban J, Volkwein C, Sommer T, (2000) A regulatory link between ER-associated protein degradation and the unfolded-protein response. Nat Cell Biol 2: 379-384.
-
(2000)
Nat Cell Biol
, vol.2
, pp. 379-384
-
-
Friedlander, R.1
Jarosch, E.2
Urban, J.3
Volkwein, C.4
Sommer, T.5
-
22
-
-
0034724520
-
Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation
-
Travers KJ, Patil CK, Wodicka L, Lockhart DJ, Weissman JS, et al. (2000) Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation. Cell 101: 249-258.
-
(2000)
Cell
, vol.101
, pp. 249-258
-
-
Travers, K.J.1
Patil, C.K.2
Wodicka, L.3
Lockhart, D.J.4
Weissman, J.S.5
-
23
-
-
0036911213
-
A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins
-
Meunier L, Usherwood YK, Chung KT, Hendershot LM, (2002) A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins. Mol Biol Cell 13: 4456-4469.
-
(2002)
Mol Biol Cell
, vol.13
, pp. 4456-4469
-
-
Meunier, L.1
Usherwood, Y.K.2
Chung, K.T.3
Hendershot, L.M.4
-
24
-
-
33645239012
-
Roles of heat shock protein gp96 in the ER quality control: redundant or unique function?
-
Yang Y, Li Z, (2005) Roles of heat shock protein gp96 in the ER quality control: redundant or unique function? Mol Cell 20: 173-182.
-
(2005)
Mol Cell
, vol.20
, pp. 173-182
-
-
Yang, Y.1
Li, Z.2
-
25
-
-
0036173013
-
Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48
-
Jarosch E, Taxis C, Volkwein C, Bordallo J, Finley D, et al. (2002) Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48. Nat Cell Biol 4: 134-139.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 134-139
-
-
Jarosch, E.1
Taxis, C.2
Volkwein, C.3
Bordallo, J.4
Finley, D.5
-
26
-
-
0036136901
-
AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation
-
Rabinovich E, Kerem A, Frohlich KU, Diamant N, Bar-Nun S, (2002) AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation. Mol Cell Biol 22: 626-634.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 626-634
-
-
Rabinovich, E.1
Kerem, A.2
Frohlich, K.U.3
Diamant, N.4
Bar-Nun, S.5
-
27
-
-
34250183177
-
HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS
-
Pandey UB, Nie Z, Batlevi Y, McCray BA, Ritson GP, et al. (2007) HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature 447: 859-863.
-
(2007)
Nature
, vol.447
, pp. 859-863
-
-
Pandey, U.B.1
Nie, Z.2
Batlevi, Y.3
McCray, B.A.4
Ritson, G.P.5
-
28
-
-
38949096081
-
Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome
-
Ding WX, Yin XM, (2008) Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome. Autophagy 4: 141-150.
-
(2008)
Autophagy
, vol.4
, pp. 141-150
-
-
Ding, W.X.1
Yin, X.M.2
-
29
-
-
0034919522
-
Expression of the lysosome-associated membrane proteins in myopathies with rimmed vacuoles
-
Tsuruta Y, Furuta A, Furuta K, Yamada T, Kira J, et al. (2001) Expression of the lysosome-associated membrane proteins in myopathies with rimmed vacuoles. Acta Neuropathol 101: 579-584.
-
(2001)
Acta Neuropathol
, vol.101
, pp. 579-584
-
-
Tsuruta, Y.1
Furuta, A.2
Furuta, K.3
Yamada, T.4
Kira, J.5
-
30
-
-
27944504351
-
p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
-
Bjorkoy G, Lamark T, Brech A, Outzen H, Perander M, et al. (2005) p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J Cell Biol 171: 603-614.
-
(2005)
J Cell Biol
, vol.171
, pp. 603-614
-
-
Bjorkoy, G.1
Lamark, T.2
Brech, A.3
Outzen, H.4
Perander, M.5
-
31
-
-
35948958216
-
HDAC6 at the intersection of autophagy, the ubiquitin-proteasome system and neurodegeneration
-
Pandey UB, Batlevi Y, Baehrecke EH, Taylor JP, (2007) HDAC6 at the intersection of autophagy, the ubiquitin-proteasome system and neurodegeneration. Autophagy 3: 643-645.
-
(2007)
Autophagy
, vol.3
, pp. 643-645
-
-
Pandey, U.B.1
Batlevi, Y.2
Baehrecke, E.H.3
Taylor, J.P.4
-
32
-
-
77950487987
-
Korolchuk VI, Menzies FM, Rubinsztein DC Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems
-
Korolchuk VI, Menzies FM, Rubinsztein DC Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems. FEBS Lett 584: 1393-1398.
-
FEBS Lett
, vol.584
, pp. 1393-1398
-
-
-
33
-
-
82355175806
-
Abnormalities of NBR1, a novel autophagy-associated protein, in muscle fibers of sporadic inclusion-body myositis
-
D'Agostino C, Nogalska A, Cacciottolo M, King Engel W, Askanas V, (2011) Abnormalities of NBR1, a novel autophagy-associated protein, in muscle fibers of sporadic inclusion-body myositis. Acta Neuropathol 122: 627-636.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 627-636
-
-
D'Agostino, C.1
Nogalska, A.2
Cacciottolo, M.3
King Engel, W.4
Askanas, V.5
-
34
-
-
68349097450
-
p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis
-
Nogalska A, Terracciano C, D'Agostino C, King Engel W, Askanas V, (2009) p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis. Acta Neuropathol 118: 407-413.
-
(2009)
Acta Neuropathol
, vol.118
, pp. 407-413
-
-
Nogalska, A.1
Terracciano, C.2
D'Agostino, C.3
King Engel, W.4
Askanas, V.5
|