-
1
-
-
34548401303
-
HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids
-
DOI 10.1016/j.ymgme.2007.06.001, PII S1096719207001953
-
Yang SY, He XY, Miller D (2007) HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol Genet Metab 92, 36-42. (Pubitemid 47361893)
-
(2007)
Molecular Genetics and Metabolism
, vol.92
, Issue.1-2
, pp. 36-42
-
-
Yang, S.-Y.1
He, X.-Y.2
Miller, D.3
-
2
-
-
24344497374
-
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: An X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
-
DOI 10.1203/01.pdr.0000176916.94328.cd
-
Perez-Cerda C, Garćia-Villoria J, Ofman R, Ruiz-Sala P, Garćia-Silva M, Dalmau J, Ugarte M, Ribes A (2005) 2-methyl-3- hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: An X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res 58, 488-491. (Pubitemid 41254512)
-
(2005)
Pediatric Research
, vol.58
, Issue.3
, pp. 488-491
-
-
Garcia-Villoria, J.1
Ofman, R.2
Sala, P.R.3
Merinero, B.4
Ramos, J.5
Garcia-Silva, M.T.6
Beseler, B.7
Dalmau, J.8
Wanders, R.J.A.9
Ugarte, M.10
Ribes, A.11
-
3
-
-
0037730098
-
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
-
DOI 10.1086/375116
-
Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ (2003) 2-Methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 72, 1300-1307. (Pubitemid 36530018)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.5
, pp. 1300-1307
-
-
Ofman, R.1
Ruiter, J.P.N.2
Feenstra, M.3
Duran, M.4
Poll-The, B.T.5
Zschocke, J.6
Ensenauer, R.7
Lehnert, W.8
Sass, J.O.9
Sperl, W.10
Wanders, R.J.A.11
-
4
-
-
77953669220
-
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
-
Rauschenberger K, Scholer K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kolker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hammerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bier-haus A, Oppermann U, Steinbeisser H, Zschocke J (2010) A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med 2, 51-62.
-
(2010)
EMBO Mol Med
, vol.2
, pp. 51-62
-
-
Rauschenberger, K.1
Scholer, K.2
Sass, J.O.3
Sauer, S.4
Djuric, Z.5
Rumig, C.6
Wolf, N.I.7
Okun, J.G.8
Kolker, S.9
Schwarz, H.10
Fischer, C.11
Grziwa, B.12
Runz, H.13
Nümann, A.14
Shafqat, N.15
Kavanagh, K.L.16
Hammerling, G.17
Wanders, R.J.18
Shield, J.P.19
Wendel, U.20
Stern, D.21
Nawroth, P.22
Hoffmann, G.F.23
Bartram, C.R.24
Arnold, B.25
Bier-Haus, A.26
Oppermann, U.27
Steinbeisser, H.28
Zschocke, J.29
more..
-
5
-
-
11144353586
-
ABAD Directly Links Aβ to Mitochondrial Toxicity in Alzheimer's Disease
-
DOI 10.1126/science.1091230
-
Lustbader JW, Cirilli M, Lin C, Xu HW, Takuma K, Wang N, Caspersen C, Chen X, Pollak S, Chaney M, Trinchese F, Liu S, Gunn-Moore F, Lue LF, Walker DG, Kuppusamy P, Zewier ZL, Arancio O, Stern D, Yan SS, Wu H (2004) ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. Science 16, 448-452. (Pubitemid 38495942)
-
(2004)
Science
, vol.304
, Issue.5669
, pp. 448-452
-
-
Lustbader, J.W.1
Cirilli, M.2
Lin, C.3
Xu, H.W.4
Takuma, K.5
Wang, N.6
Caspersen, C.7
Chen, X.8
Pollak, S.9
Chaney, M.10
Trinchese, F.11
Liu, S.12
Gunn-Moore, F.13
Lue, L.-F.14
Walker, D.G.15
Kappasamy, P.16
Zewier, Z.L.17
Arancio, O.18
Stern, D.19
Yan, S.S.D.20
Wu, H.21
more..
-
6
-
-
0013079948
-
An intracellular protein that binds amyloid-β peptide and mediates neurotoxicity in Alzheimer's disease
-
DOI 10.1038/39522
-
Yan SD, Fu J, Soto C, Chen X, Zhu H, Al Mohanna F, Collison K, Zhu A, Stern E, Saido T, Tohyama M, Ogawa S, Roher A, Stern D (1997) An intracellular protein that binds amyloid fj peptide and mediates neurotoxicity in Alzheimer's disease. Nature 389, 689-695. (Pubitemid 27458947)
-
(1997)
Nature
, vol.389
, Issue.6652
, pp. 689-695
-
-
Yan, S.D.1
Fu, J.2
Soto, C.3
Chen, X.4
Zhu, H.5
Al-Mohanna, F.6
Collison, K.7
Zhu, A.8
Stern, E.9
Saido, T.10
Tohyama, M.11
Ogawa, S.12
Roher, A.13
Stern, D.14
-
7
-
-
57649233373
-
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis
-
Garćia-Villoria J, Navarro-Sastre A, Fons C, Perez-Cerda C, Baldellou A, Fuentes-Castello MA, Gonzalez I, Hernandez-Gonzalez A, Fernandez C, Campistol J, Delpiccolo C, Cortes N, Messeguer A, Briones P, Ribes A (2009) Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis. Clin Biochem 42, 27-33.
-
(2009)
Clin Biochem
, vol.42
, pp. 27-33
-
-
Garćia-Villoria, J.1
Navarro-Sastre, A.2
Fons, C.3
Perez-Cerda, C.4
Baldellou, A.5
Ma, F.6
Gonzalez, I.7
Hernandez-Gonzalez, A.8
Fernandez, C.9
Campistol, J.10
Delpiccolo, C.11
Cortes, N.12
Messeguer, A.13
Briones, P.14
Ribes, A.15
-
8
-
-
12344270964
-
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins
-
DOI 10.1016/j.jneumeth.2004.08.007, PII S0165027004003036
-
Ormazabal A, Garćia-Cazorla A, Fernandez Y, Fernandez-Alvarez E, Campistol J, Artuch R (2005) HLPC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Meth 142, 153-158. (Pubitemid 40138040)
-
(2005)
Journal of Neuroscience Methods
, vol.142
, Issue.1
, pp. 153-158
-
-
Ormazabal, A.1
Garcia-Cazorla, A.2
Fernandez, Y.3
Fernandez-Alvarez, E.4
Campistol, J.5
Artuch, R.6
-
9
-
-
0034020025
-
Cerebrospinal fluid protein concentrations in children: Age-related values in patients without disorders of the central nervous system
-
Biou D, Benoist JF, Nguyen-Thi Xuan Huong C, Morel P, Marchand M (2000) Cerebrospinal fluid protein concentrations in children: Age-related values in patients without disorders of the central nervous system. Clin Chem 46, 399-403. (Pubitemid 30152267)
-
(2000)
Clinical Chemistry
, vol.46
, Issue.3
, pp. 399-403
-
-
Biou, D.1
Benoist, J.-F.2
Xuan Huong, C.N.-T.3
Morel, P.4
Marchand, M.5
-
10
-
-
71849099881
-
Amyloid beta and APP as biomarkers for Alzheimer's disease
-
Zetterberg H, Blennow K, Hanse E (2010) Amyloid beta and APP as biomarkers for Alzheimer's disease. Exp Gerontol 45, 23-29.
-
(2010)
Exp Gerontol
, vol.45
, pp. 23-29
-
-
Zetterberg, H.1
Blennow, K.2
Hanse, E.3
-
11
-
-
33746233383
-
Synapse formation and function is modulated by the amyloid precursor protein
-
Priller C, Bauer T, Mitteregger G, Krebs B, Kretzschmar HA, Herms J (2006) Synapse formation and function is modulated by the amyloid precursor protein. J Neurosci 26, 7212-7221.
-
(2006)
J Neurosci
, vol.26
, pp. 7212-7221
-
-
Priller, C.1
Bauer, T.2
Mitteregger, G.3
Krebs, B.4
Kretzschmar, H.A.5
Herms, J.6
-
12
-
-
60549089207
-
APP binds DR6 to trigger axon pruning and neuron death via distinct caspases
-
Nikolaev A, McLaughlin T, O'Leary DD, Tessier-Lavigne M (2009) APP binds DR6 to trigger axon pruning and neuron death via distinct caspases. Nature 19, 981-989.
-
(2009)
Nature
, vol.19
, pp. 981-989
-
-
Nikolaev, A.1
McLaughlin, T.2
O'Leary, D.D.3
Tessier-Lavigne, M.4
-
13
-
-
77949704950
-
Oral treatment with a gamma-secretase inhibitor improves long-term potentiation in a mouse model of Alzheimer's disease
-
Townsend M, Qu Y, Gray A, Wu Z, Seto T, Hutton M, Shearman MS, Middleton RE (2010) Oral treatment with a gamma-secretase inhibitor improves long-term potentiation in a mouse model of Alzheimer's disease. J Pharmacol Exp Ther 333, 110-119.
-
(2010)
J Pharmacol Exp Ther
, vol.333
, pp. 110-119
-
-
Townsend, M.1
Qu, Y.2
Gray, A.3
Wu, Z.4
Seto, T.5
Hutton, M.6
Shearman, M.S.7
Middleton, R.E.8
-
14
-
-
33751243918
-
Spatial and temporal control of age-related APP processing in genomic-based β-secretase transgenic mice
-
DOI 10.1016/j.neurobiolaging.2005.11.011, PII S0197458005004161
-
Chiocco MJ, Lamb BT (2007) Spatial and temporal control of age-related APP processing in genomic-based beta-secretase transgenic mice. Neurobiol Aging 28, 75-84. (Pubitemid 44791642)
-
(2007)
Neurobiology of Aging
, vol.28
, Issue.1
, pp. 75-84
-
-
Chiocco, M.J.1
Lamb, B.T.2
-
15
-
-
11544279355
-
Diffusible, non-fibrillar ligands derived from Abeta1-42 are potent central nervous system neurotoxins
-
Lambert MP, Barlow AK, Chromy BA (1998) Diffusible, non-fibrillar ligands derived from Abeta1-42 are potent central nervous system neurotoxins. Proc Natl Acad Sci USA 95, 6448-6453.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6448-6453
-
-
Lambert, M.P.1
Barlow, A.K.2
Chromy, B.A.3
-
16
-
-
0037041426
-
Naturally secreted oligomers of amyloid β protein potently inhibit hippocampal long-term potentiation in vivo
-
DOI 10.1038/416535a
-
Walsh DM, Klyubin I, Fadeeva JV, Cullen WK, Anwyl R, Wolfe MS, Rowan MJ, Selkoe DJ (2002) Naturally secreted oligomers of amyloid beta protein potently inhibit hippocam-pal long-term potentiation in vivo. Nature 416, 535-539. (Pubitemid 34288854)
-
(2002)
Nature
, vol.416
, Issue.6880
, pp. 535-539
-
-
Walsh, D.M.1
Klyubin, I.2
Fadeeva, J.V.3
Cullen, W.K.4
Anwyl, R.5
Wolfe, M.S.6
Rowan, M.J.7
Selkoe, D.J.8
-
17
-
-
0034984469
-
Apoptotic neurons in Alzheimer's disease frequently show intracellular Aβ42 labeling
-
Chui DH, Dobo E, Makifuchi T, Akiyama H, Kawakatsu S, Petit A, Checler F, Araki W, Takahashi K, Tabira T (2001) Apoptotic neurons in Alzheimer's disease frequently show intracellular Abeta42 labeling. J Alzheimers Dis 3, 231-239. (Pubitemid 32566522)
-
(2001)
Journal of Alzheimer's Disease
, vol.3
, Issue.2
, pp. 231-239
-
-
Chui, D.H.1
Dobo, E.2
Makifuchi, T.3
Akiyama, H.4
Kawakatsu, S.5
Petit, A.6
Checler, F.7
Araki, W.8
Takahashi, K.9
Tabira, T.10
-
18
-
-
12144288683
-
Hippocampal Neuron Loss Exceeds Amyloid Plaque Load in a Transgenic Mouse Model of Alzheimer's Disease
-
Schmitz C, Rutten BP, Pielen A (2004) Hippocampal neuron loss exceeds amyloid plaque loadinatransgenic mouse model of Alzheimer's disease. Am J Pathol 164, 1495-1502. (Pubitemid 38387814)
-
(2004)
American Journal of Pathology
, vol.164
, Issue.4
, pp. 1495-1502
-
-
Schmitz, C.1
Rutten, B.P.F.2
Pielen, A.3
Schafer, S.4
Wirths, O.5
Tremp, G.6
Czech, C.7
Blanchard, V.8
Multhaup, G.9
Rezaie, P.10
Korr, H.11
Steinbusch, H.W.M.12
Pradier, L.13
Bayer, T.A.14
-
19
-
-
33751082371
-
Distinct roles of the β1-class integrins at the developing and the mature hippocampal excitatory synapse
-
DOI 10.1523/JNEUROSCI.3526-06.2006
-
Huang Z, Shimazu K, Woo NH, Zang K, Müller U, Lu B, Reichardt LF (2006) Distinct roles of the beta 1-class inte-grinsat the developing and the mature hippocampal excitatory synapse. J Neurosci 25, 11208-11219. (Pubitemid 44772208)
-
(2006)
Journal of Neuroscience
, vol.26
, Issue.43
, pp. 11208-11219
-
-
Huang, Z.1
Shimazu, K.2
Woo, N.H.3
Zang, K.4
Muller, U.5
Lu, B.6
Reichardt, L.F.7
-
20
-
-
0037383851
-
- co-transporter KCC2
-
DOI 10.1242/dev.00351
-
Aguado F, Carmona MA, Pozas E, Aguiló A, Mart́inez-Guijarro FJ, Alcantara S, Borrell V, Yuste R, Ibanez CF, Soriano E (2003) BDNF regulates spontaneous correlated activity at early developmental stages by increasing synap-togenesis and expression of the K+/Cl-co-transporter KCC2. Development 130, 1267-1280. (Pubitemid 36410776)
-
(2003)
Development
, vol.130
, Issue.7
, pp. 1267-1280
-
-
Aguado, F.1
Carmona, M.A.2
Pozas, E.3
Aguilo, A.4
Martinez-Guijarro, F.J.5
Alcantara, S.6
Borrell, V.7
Yuste, R.8
Ibanez, C.F.9
Soriano, E.10
-
21
-
-
77957347060
-
Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro
-
Burré J, Sharma M, Tsetsenis T, Buchman V, Etherton MR, Südhof TC (2010) Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro. Science 329, 1663-1667.
-
(2010)
Science
, vol.329
, pp. 1663-1667
-
-
Burré, J.1
Sharma, M.2
Tsetsenis, T.3
Buchman, V.4
Etherton, M.R.5
Südhof, T.C.6
-
22
-
-
0034193399
-
Synucleins are developmentally expressed, and α-synuclein regulates the size of the presynaptic vesicular pool in primary hippocampal neurons
-
Murphy DD, Rueter SM, Trojanowski JQ, Lee VM (2000) Synucleins are developmentally expressed, and alpha-synuclein regulates the size of the presynaptic vesicular pool in primary hippocampal neurons. J Neurosci 20, 3214-3220. (Pubitemid 30263139)
-
(2000)
Journal of Neuroscience
, vol.20
, Issue.9
, pp. 3214-3220
-
-
Murphy, D.D.1
Rueter, S.M.2
Trojanowski, J.Q.3
Lee, V.M.-Y.4
-
23
-
-
77954379317
-
SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease
-
Garcia-Reitböck P, Anichtchik O, Bellucci A, Iovino M, Ballini C, Fineberg E, Ghetti B, Della Corte L, Spano P, Tofaris GK, Goedert M, Spillantini MG (2010) SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease. Brain 133, 2032-2044.
-
(2010)
Brain
, vol.133
, pp. 2032-2044
-
-
Garcia-Reitböck, P.1
Anichtchik, O.2
Bellucci, A.3
Iovino, M.4
Ballini, C.5
Fineberg, E.6
Ghetti, B.7
Della Corte, L.8
Spano, P.9
Tofaris, G.K.10
Goedert, M.11
Spillantini, M.G.12
|