-
1
-
-
33847717961
-
-
Mizuguchi M, Yannanouchi H, Ichiyama T, Shiomi M: Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand 115 (Suppl. 186): 45-56, 2007
-
(2007)
Acute Encephalopathy Associated With Influenza and Other Viral Infections. Acta Neurol Scand
, vol.115
, Issue.SUPPL. 186
, pp. 45-56
-
-
Mizuguchi, M.1
Yannanouchi, H.2
Ichiyama, T.3
Shiomi, M.4
-
2
-
-
0030949807
-
Acute necrotizing encephalopathy of childhood: A novel form of acute encephalopathy prevalent in Japan and Taiwan
-
Mizuguchi M: Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev 19: 81-92, 1997
-
(1997)
Brain Dev
, vol.19
, pp. 81-92
-
-
Mizuguchi, M.1
-
3
-
-
0034060125
-
Influenza-associated encephalopathy in Japan: Pathogenesis and treatment
-
Sugaya N: Influenza-associated encephalopathy in Japan: pathogenesis and treatment. Pediatr Int 42: 215-218, 2000
-
(2000)
Pediatr Int
, vol.42
, pp. 215-218
-
-
Sugaya, N.1
-
4
-
-
79955926065
-
Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases
-
Shinohara M, Saitoh M, Takahashi J, Yamanouchi H, Kubota M, Goto T, Kikuchi M, Shiihara T, Yamanaka G, Mizuguchi M: Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. Brain Dev 33: 512-517, 2011
-
(2011)
Brain Dev
, vol.33
, pp. 512-517
-
-
Shinohara, M.1
Saitoh, M.2
Takahashi, J.3
Yamanouchi, H.4
Kubota, M.5
Goto, T.6
Kikuchi, M.7
Shiihara, T.8
Yamanaka, G.9
Mizuguchi, M.10
-
5
-
-
0036720453
-
Encephalitis and encephalopathy associated with an influenza epidemic in Japan
-
Morishima T, Togashi T, Yokota S, Okuno Y, Miyazaki C, Tashiro M, Okabe N: Encephalitis and encephalopathy associated with an influenza epidemic in Japan. Clin Infect Dis 35: 512-517, 2002
-
(2002)
Clin Infect Dis
, vol.35
, pp. 512-517
-
-
Morishima, T.1
Togashi, T.2
Yokota, S.3
Okuno, Y.4
Miyazaki, C.5
Tashiro, M.6
Okabe, N.7
-
6
-
-
20144387942
-
Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy
-
Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H: Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett 579: 2040-2044, 005
-
FEBS Lett
, vol.579
-
-
Chen, Y.1
Mizuguchi, H.2
Yao, D.3
Ide, M.4
Kuroda, Y.5
Shigematsu, Y.6
Yamaguchi, S.7
Yamaguchi, M.8
Kinoshita, M.9
Kido, H.10
-
7
-
-
42949132101
-
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy
-
Yao D, Mizuguchi H, Yamaguchi M, Yamada H, Chida J, Shikata K, Kido H: Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. Hum Mutat 29: 718-727, 2008
-
(2008)
Hum Mutat
, vol.29
, pp. 718-727
-
-
Yao, D.1
Mizuguchi, H.2
Yamaguchi, M.3
Yamada, H.4
Chida, J.5
Shikata, K.6
Kido, H.7
-
8
-
-
80052733503
-
Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children
-
PMID: 21277129
-
Kubota M, Chida J, Hoshino H, Ozawa H, Koide A, Kashii H, Koyama A, Mizuno Y, Hoshino A, Yamaguchi M, Yao D, Yao M, Kido H: Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children. Brain Dev PMID: 21277129, 2011
-
(2011)
Brain Dev
-
-
Kubota, M.1
Chida, J.2
Hoshino, H.3
Ozawa, H.4
Koide, A.5
Kashii, H.6
Koyama, A.7
Mizuno, Y.8
Hoshino, A.9
Yamaguchi, M.10
Yao, D.11
Yao, M.12
Kido, H.13
-
9
-
-
0025906746
-
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
-
Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM: Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859-864, 1991
-
(1991)
J Clin Invest
, vol.87
, pp. 859-864
-
-
Demaugre, F.1
Bonnefont, J.P.2
Colonna, M.3
Cepanec, C.4
Leroux, J.P.5
Saudubray, J.M.6
-
10
-
-
0028566282
-
Limited trypsin proteolysis renders carnitine palmitoyltransferase insensitive to inhibition by malonyl-CoA in patients with muscle carnitine palmitoyltransferase deficiency
-
Zierz S: Limited trypsin proteolysis renders carnitine palmitoyltransferase insensitive to inhibition by malonyl-CoA in patients with muscle carnitine palmitoyltransferase deficiency. Clin Investig 72: 957-960, 1994
-
(1994)
Clin Investig
, vol.72
, pp. 957-960
-
-
Zierz, S.1
-
11
-
-
0026410146
-
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II
-
Hug G, Bove KE, Soukup S: Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325: 1862-1864, 1991
-
(1991)
N Engl J Med
, vol.325
, pp. 1862-1864
-
-
Hug, G.1
Bove, K.E.2
Soukup, S.3
-
12
-
-
0015800677
-
Muscle carnitine palmityltransferase deficiency and myoglobinuria
-
DiMauro S, DiMauro PM: Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182: 929-931, 1973
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
Dimauro, S.1
Dimauro, P.M.2
-
13
-
-
0026744712
-
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
-
Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S: Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89: 8429-8433,1992
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 8429-8433
-
-
Taroni, F.1
Verderio, E.2
Fiorucci, S.3
Cavadini, P.4
Finocchiaro, G.5
Uziel, G.6
Lamantea, E.7
Gellera, C.8
Didonato, S.9
-
14
-
-
0037404560
-
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
-
Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP: Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat 21: 493-501, 2003
-
(2003)
Hum Mutat
, vol.21
, pp. 493-501
-
-
Thuillier, L.1
Rostane, H.2
Droin, V.3
Demaugre, F.4
Brivet, M.5
Kadhom, N.6
Prip-Buus, C.7
Gobin, S.8
Saudubray, J.M.9
Bonnefont, J.P.10
-
15
-
-
10744227202
-
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency
-
Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis 26: 543-57, 2003
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 543-557
-
-
Olpin, S.E.1
Afifi, A.2
Clark, S.3
Manning, N.J.4
Bonham, J.R.5
Dalton, A.6
Leonard, J.V.7
Land, J.M.8
Andresen, B.S.9
Morris, A.A.10
Muntoni, F.11
Turnbull, D.12
Pourfarzam, M.13
Rahman, S.14
Pollitt, R.J.15
-
16
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685, 1970
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
17
-
-
0019177965
-
Systemic carnitine deficiency
-
McGarry JD, Foster DW: Systemic carnitine deficiency. N Engl J Med 303: 1413-1415, 1980
-
(1980)
N Engl J Med
, vol.303
, pp. 1413-1415
-
-
McGarry, J.D.1
Foster, D.W.2
-
18
-
-
33645979025
-
The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment
-
Rufer AC, Thoma R, Benz J, Stihle M, Gsell B, De Roo E, Banner DW, Mueller F, Chomienne O, Hennig M: The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment. Structure 14: 713-723, 2006
-
(2006)
Structure
, vol.14
, pp. 713-723
-
-
Rufer, A.C.1
Thoma, R.2
Benz, J.3
Stihle, M.4
Gsell, B.5
de Roo, E.6
Banner, D.W.7
Mueller, F.8
Chomienne, O.9
Hennig, M.10
-
19
-
-
33750624816
-
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmi-toyltransferase II deficiency
-
Isackson PJ, Bennett MJ, Vladutiu GD: Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmi-toyltransferase II deficiency. Mol Genet Metab 89: 323-331, 2006
-
(2006)
Mol Genet Metab
, vol.89
, pp. 323-331
-
-
Isackson, P.J.1
Bennett, M.J.2
Vladutiu, G.D.3
-
20
-
-
0033387532
-
Carnitine palmitoyltransferase deficiencies
-
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L: Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 68: 424-440, 1999
-
(1999)
Mol Genet Metab
, vol.68
, pp. 424-440
-
-
Bonnefont, J.P.1
Demaugre, F.2
Prip-Buus, C.3
Saudubray, J.M.4
Brivet, M.5
Abadi, N.6
Thuillier, L.7
-
21
-
-
0033025040
-
Novel mutations associated with carnitine palmitoyltransferase II deficiency
-
Taggart RT, Smail D, Apolito C, Vladutiu GD: Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 13: 210-220, 1999
-
(1999)
Hum Mutat
, vol.13
, pp. 210-220
-
-
Taggart, R.T.1
Smail, D.2
Apolito, C.3
Vladutiu, G.D.4
-
22
-
-
0028859651
-
Carnitine palmitoyltransferase II deficiency: Structure of the gene and characterization of two novel disease-causing mutations
-
Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F: Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4: 19-29, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 19-29
-
-
Verderio, E.1
Cavadini, P.2
Montermini, L.3
Wang, H.4
Lamantea, E.5
Finocchiaro, G.6
Didonato, S.7
Gellera, C.8
Taroni, F.9
-
23
-
-
0030953225
-
The pharmacologic approach to the treatment of obesity
-
Weiser M, Frishman WH, Michaelson MD, Abdeen MA: The pharmacologic approach to the treatment of obesity. J Clin Pharmacol 37: 453-473, 1997
-
(1997)
J Clin Pharmacol
, vol.37
, pp. 453-473
-
-
Weiser, M.1
Frishman, W.H.2
Michaelson, M.D.3
Abdeen, M.A.4
-
24
-
-
0031685634
-
A novel mutation identified in carnitine palmitoyltransferase II deficiency
-
Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR: A novel mutation identified in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 63: 110-115, 1998
-
(1998)
Mol Genet Metab
, vol.63
, pp. 110-115
-
-
Yang, B.Z.1
Ding, J.H.2
Roe, D.3
Dewese, T.4
Day, D.W.5
Roe, C.R.6
-
25
-
-
0031714426
-
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency
-
Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C: Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. Mol Genet Metab 64: 229-236, 1998
-
(1998)
Mol Genet Metab
, vol.64
, pp. 229-236
-
-
Yang, B.Z.1
Ding, J.H.2
Dewese, T.3
Roe, D.4
He, G.5
Wilkinson, J.6
Day, D.W.7
Demaugre, F.8
Rabier, D.9
Brivet, M.10
Roe, C.11
-
26
-
-
7144227283
-
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
-
Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Toroni F, Matsubara Y, Narisawa K: Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 11: 377-386, 1998
-
(1998)
Hum Mutat
, vol.11
, pp. 377-386
-
-
Wataya, K.1
Akanuma, J.2
Cavadini, P.3
Aoki, Y.4
Kure, S.5
Invernizzi, F.6
Yoshida, I.7
Kira, J.8
Toroni, F.9
Matsubara, Y.10
Narisawa, K.11
-
27
-
-
77956939946
-
Influenza virus-cytokineprotease cycle in the pathogenesis of vascular hyperpermeability in severe influenza
-
Wang S, Le TQ, Kurihara N, Chida J, Cisse Y, Yano M, Kido H: Influenza virus-cytokineprotease cycle in the pathogenesis of vascular hyperpermeability in severe influenza. J Infect Dis 207: 991-1001, 2010
-
(2010)
J Infect Dis
, vol.207
, pp. 991-1001
-
-
Wang, S.1
Le, T.Q.2
Kurihara, N.3
Chida, J.4
Cisse, Y.5
Yano, M.6
Kido, H.7
-
28
-
-
0017487289
-
The large apparent work capability of the bloodbrain barrier: A study of the mitochondrial content of capillary endothelial cells in brain and other tissues of the rat
-
Oldendorf WH, Cornford ME, Brown WJ: The large apparent work capability of the bloodbrain barrier: a study of the mitochondrial content of capillary endothelial cells in brain and other tissues of the rat. Ann Neurol 1: 409-417,1977
-
(1977)
Ann Neurol
, vol.1
, pp. 409-417
-
-
Oldendorf, W.H.1
Cornford, M.E.2
Brown, W.J.3
-
29
-
-
0035933369
-
Acute regulation of fatty acid oxidation and AMP-activated protein kinase in human umbilical vein endothelial cells
-
Dagher Z, Ruderman N, Tornheim K, Ido Y: Acute regulation of fatty acid oxidation and AMP-activated protein kinase in human umbilical vein endothelial cells. Circ Res 88: 1276-1282,2001
-
(2001)
Circ Res
, vol.88
, pp. 1276-1282
-
-
Dagher, Z.1
Ruderman, N.2
Tornheim, K.3
Ido, Y.4
-
30
-
-
78650804424
-
Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshif mutations in long-QT syndrome
-
Gong Q, Stump MR, Zhou Z: Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshif mutations in long-QT syndrome. J Mol Cell Car-diol 50: 223-229, 2011
-
(2011)
J Mol Cell Car-diol
, vol.50
, pp. 223-229
-
-
Gong, Q.1
Stump, M.R.2
Zhou, Z.3
-
32
-
-
4444307033
-
Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects
-
Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J: Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 25: 495-520, 2004
-
(2004)
Mol Aspects Med
, vol.25
, pp. 495-520
-
-
Bonnefont, J.P.1
Djouadi, F.2
Prip-Buus, C.3
Gobin, S.4
Munnich, A.5
Bastin, J.6
-
33
-
-
0028822474
-
Hypoxia increases the susceptibility to oxidant stress and the permeability of the blood-brain barrier endothelial cell monolayer
-
Plateel M, Dehouck MP, Torpier G, Cecchelli R, Teissier E: Hypoxia increases the susceptibility to oxidant stress and the permeability of the blood-brain barrier endothelial cell monolayer. J Neurochem 65: 2138-2145, 1995
-
(1995)
J Neurochem
, vol.65
, pp. 2138-2145
-
-
Plateel, M.1
Dehouck, M.P.2
Torpier, G.3
Cecchelli, R.4
Teissier, E.5
-
34
-
-
0032400856
-
Role of spontaneous and interleukin-2-induced natural killer cell activity in the cytotoxicity and rejection of Fas+ and Fastumor cells
-
Bradley M, Zeytun A, Rafi-Janajreh A, Nagarkatti PS, Nagarkatti M: Role of spontaneous and interleukin-2-induced natural killer cell activity in the cytotoxicity and rejection of Fas+ and Fastumor cells. Blood 92: 4248-4255,1998
-
(1998)
Blood
, vol.92
, pp. 4248-4255
-
-
Bradley, M.1
Zeytun, A.2
Rafi-Janajreh, A.3
Nagarkatti, P.S.4
Nagarkatti, M.5
-
35
-
-
0034177951
-
Tissue variation in the contro of oxidative phosphorylation: Implication for mitochondrial diseases
-
Rossignol R, Letellier T, Malgat M, Rocher C, Mazat JP: Tissue variation in the contro of oxidative phosphorylation: implication for mitochondrial diseases. Biochem J 347: 45-53, 2000
-
(2000)
Biochem J
, vol.347
, pp. 45-53
-
-
Rossignol, R.1
Letellier, T.2
Malgat, M.3
Rocher, C.4
Mazat5
|