-
1
-
-
0001294620
-
Central autonomic dysfunction with defective lacrimation: Report of five cases
-
Riley CM, Day RL, Greeley DMCL, William S.
-
Riley CM, Day RL, Greeley DMCL, William S (1949) Central Autonomic Dysfunction with defective Lacrimation: Report of five Cases. Pediatrics 3: 468.
-
(1949)
Pediatrics
, vol.3
, pp. 468
-
-
-
2
-
-
1442328913
-
Familial dysautonomia
-
Axelrod FB (2004) Familial Dysautonomia. Muscle Nerve 29: 352-363.
-
(2004)
Muscle Nerve
, vol.29
, pp. 352-363
-
-
Axelrod, F.B.1
-
3
-
-
0035097484
-
Familial dysautonomia is caused by mutations of the IKAP gene
-
Anderson SL, Coli R, Daly IW, Kichula Ea, Rork MJ, et al. (2001) Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 68: 753-758. doi: 10.1086/318808.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 753-758
-
-
Anderson, S.L.1
Coli, R.2
Daly, I.W.3
Ea, K.4
Rork, M.J.5
-
4
-
-
0035089807
-
Tissuespecific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
-
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, et al. (2001) Tissuespecific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68: 598-605.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 598-605
-
-
Slaugenhaupt, S.A.1
Blumenfeld, A.2
Gill, S.P.3
Leyne, M.4
Mull, J.5
-
5
-
-
0037371609
-
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
-
Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, et al. (2003) Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet 72: 749-758. doi: 10.1086/368263.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 749-758
-
-
Cuajungco, M.P.1
Leyne, M.2
Mull, J.3
Gill, S.P.4
Lu, W.5
-
6
-
-
0032541670
-
IKAP is a scaffold protein of the IkappaB kinase complex
-
Cohen L, Henzel WJ, Baeuerle PA (1998) IKAP is a scaffold protein of the IkappaB kinase complex. Nature 395: 292-296. doi:10.1038/26254.
-
(1998)
Nature
, vol.395
, pp. 292-296
-
-
Cohen, L.1
Henzel, W.J.2
Baeuerle, P.A.3
-
7
-
-
0032971711
-
Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation
-
Otero G, Fellows J, Li Y, de Bizemont T, Dirac aM, et al. (1999) Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation. Mol Cell 3: 109-118.
-
(1999)
Mol Cell
, vol.3
, pp. 109-118
-
-
Otero, G.1
Fellows, J.2
Li, Y.3
De Bizemont, T.4
Diraca, M.5
-
8
-
-
0037169503
-
Purification and characterization of the human elongator complex
-
Hawkes NA, Otero G, Winkler GS, Marshall N, Dahmus ME, et al. (2002) Purification and characterization of the human elongator complex. J Biol Chem 277: 3047-3052. doi:10.1074/jbc.M110445200.
-
(2002)
J Biol Chem
, vol.277
, pp. 3047-3052
-
-
Hawkes, N.A.1
Otero, G.2
Winkler, G.S.3
Marshall, N.4
Dahmus, M.E.5
-
9
-
-
0037200023
-
A novel specific role for i kappa B kinase complex-associated protein in cytosolic stress signaling
-
Holmberg C, Katz S, Lerdrup M, Herdegen T, Jää ttelä M, et al. (2002) A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling. J Biol Chem 277: 31918-31928. doi: 10.1074/jbc.M200719200.
-
(2002)
J Biol Chem
, vol.277
, pp. 31918-31928
-
-
Holmberg, C.1
Katz, S.2
Lerdrup, M.3
Herdegen, T.4
Jäättelä, M.5
-
10
-
-
15244355534
-
Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation
-
Rahl PB, Chen CZ, Collins RN (2005) Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation. Mol Cell 17: 841-853. doi: 10.1016/j.molcel.2005.02.018.
-
(2005)
Mol Cell
, vol.17
, pp. 841-853
-
-
Rahl, P.B.1
Chen, C.Z.2
Collins, R.N.3
-
11
-
-
59349089711
-
Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin
-
Creppe C, Malinouskaya L, Volvert M-L, Gillard M, Close P, et al. (2009) Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell 136: 551-564.
-
(2009)
Cell
, vol.136
, pp. 551-564
-
-
Creppe, C.1
Malinouskaya, L.2
Volvert, M.-L.3
Gillard, M.4
Close, P.5
-
12
-
-
59249093238
-
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP
-
Chen Y-T, Hims MM, Shetty RS, Mull J, Liu L, et al. (2009) Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol 29: 736-744. doi: 10.1128/MCB.01313-08.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 736-744
-
-
Chen, Y.-T.1
Hims, M.M.2
Shetty, R.S.3
Mull, J.4
Liu, L.5
-
13
-
-
84869034190
-
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia
-
Dietrich P, Alli S, Shanmugasundaram R, Dragatsis I (2012) IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. Hum Mol Genet 21(23): 5078-90.
-
(2012)
Hum Mol Genet
, vol.21
, Issue.23
, pp. 5078-5090
-
-
Dietrich, P.1
Alli, S.2
Shanmugasundaram, R.3
Dragatsis, I.4
-
14
-
-
22144470750
-
Regulatory mechanisms for neural crest formation
-
Sakai D, Wakamatsu Y (2005) Regulatory mechanisms for neural crest formation. Cells Tissues Organs 179: 24-35. doi:10.1159/000084506.
-
(2005)
Cells Tissues Organs
, vol.179
, pp. 24-35
-
-
Sakai, D.1
Wakamatsu, Y.2
-
15
-
-
33846447430
-
Specification and connectivity of neuronal subtypes in the sensory lineage
-
Marmigère F, Ernfors P (2007) Specification and connectivity of neuronal subtypes in the sensory lineage. Nat Rev Neurosci 8: 114-127. doi: 10.1038/nrn2057.
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 114-127
-
-
Marmigère, F.1
Ernfors, P.2
-
16
-
-
84887496750
-
Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons
-
George L, Chaverra M, Wolfe L, Thorne J, Close-Davis M, et al. (2013) Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. Proc Natl Acad Sci U S A 110: 18698-18703. doi:10.1073/pnas.1308596110.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 18698-18703
-
-
George, L.1
Chaverra, M.2
Wolfe, L.3
Thorne, J.4
Close-Davis, M.5
-
17
-
-
84857592109
-
IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration
-
Hunnicutt BJ, Chaverra M, George L, Lefcort F (2012) IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration. PLoS One 7: e32050. doi: 10.1371/journal.pone.0032050.
-
(2012)
PLoS One
, vol.7
, pp. e32050
-
-
Hunnicutt, B.J.1
Chaverra, M.2
George, L.3
Lefcort, F.4
-
18
-
-
79960646720
-
The growth cone cytoskeleton in axon outgrowth and guidance
-
Dent EW, Gupton SL, Gertler FB (2010) The growth cone cytoskeleton in axon outgrowth and guidance. Cold Spring Harb Perspect Biol 3: a001800. doi: 10.1101/cshperspect.a001800.
-
(2010)
Cold Spring Harb Perspect Biol
, vol.3
, pp. a001800
-
-
Dent, E.W.1
Gupton, S.L.2
Gertler, F.B.3
-
19
-
-
79960035912
-
Brn3a and Islet1 act epistatically to regulate the gene expression program of sensory differentiation
-
Dykes IM, Tempest L, Lee SI, Turner EE (2011) Brn3a and Islet1 act epistatically to regulate the gene expression program of sensory differentiation. The Journal of Neuroscience 31(27): 9789-9799. doi: 10.1523/JNEUROSCI.0901-11.2011.
-
(2011)
The Journal of Neuroscience
, vol.31
, Issue.27
, pp. 9789-9799
-
-
Dykes, I.M.1
Tempest, L.2
Lee, S.I.3
Turner, E.E.4
-
20
-
-
0033865893
-
The role of retinoic acid receptors in neurite outgrowth from different populations of embryonic mouse dorsal root ganglia
-
Corcoran J, Shroot B, Pizzey J, Maden M (2000) The role of retinoic acid receptors in neurite outgrowth from different populations of embryonic mouse dorsal root ganglia. J Cell Sci 113 (Pt 14): 2567-74.
-
(2000)
J Cell Sci
, vol.113
, pp. 2567-2574
-
-
Corcoran, J.1
Shroot, B.2
Pizzey, J.3
Maden, M.4
-
22
-
-
0033535993
-
Differential expression of Islet-1 in neural crestderived ganglia: Islet-1 + dorsal root ganglion cells are post-mitotic and Islet-1 + sympathetic ganglion cells are still cycling
-
Avivi C, Goldstein RS (1999) Differential expression of Islet-1 in neural crestderived ganglia: Islet-1 + dorsal root ganglion cells are post-mitotic and Islet-1 + sympathetic ganglion cells are still cycling. Brain Res Dev Brain Res 115: 89-92.
-
(1999)
Brain Res Dev Brain Res
, vol.115
, pp. 89-92
-
-
Avivi, C.1
Goldstein, R.S.2
-
23
-
-
77949517646
-
Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies
-
Valensi-Kurtz M, Lefler S, Cohen Ma, Aharonowiz M, Cohen-Kupiec R, et al. (2010) Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies. PLoS One 5: e9290. doi:10.1371/journal.pone.0009290.
-
(2010)
PLoS One
, vol.5
, pp. e9290
-
-
Valensi-Kurtz, M.1
Lefler, S.2
Cohen, M.A.3
Aharonowiz, M.4
Cohen-Kupiec, R.5
-
24
-
-
42549137421
-
IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration
-
Johansen LD, Naumanen T, Knudsen A, Westerlund N, Gromova I, et al. (2008) IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration. J Cell Sci 121: 854-864.
-
(2008)
J Cell Sci
, vol.121
, pp. 854-864
-
-
Johansen, L.D.1
Naumanen, T.2
Knudsen, A.3
Westerlund, N.4
Gromova, I.5
-
25
-
-
84891685259
-
Microtubule dynamics in neuronal morphogenesis
-
Sakakibara A, Ando R, Sapir T, Tanaka T (2013) Microtubule dynamics in neuronal morphogenesis. Open Biol 3: 130061. doi:10.1098/rsob.130061.
-
(2013)
Open Biol
, vol.3
, pp. 130061
-
-
Sakakibara, A.1
Ando, R.2
Sapir, T.3
Tanaka, T.4
-
26
-
-
66249114341
-
A retrograde neuronal survival response: Target-derived neurotrophins regulate MEF2D and bcl-w
-
Pazyra-Murphy MF, Hans A, Courchesne SL, Karch C, Cosker KE, et al. (2009) A retrograde neuronal survival response: target-derived neurotrophins regulate MEF2D and bcl-w. J Neurosci 29: 6700-6709. doi: 10.1523/JNEUROSCI.0233-09.2009.
-
(2009)
J Neurosci
, vol.29
, pp. 6700-6709
-
-
Pazyra-Murphy, M.F.1
Hans, A.2
Courchesne, S.L.3
Karch, C.4
Cosker, K.E.5
-
27
-
-
43449109765
-
Serum response factor mediates NGF-dependent target innervation by embryonic drg sensory neurons
-
Wickramasinghe SR, Alvania RS, Ramanan N, John N, Mandai K, et al. (2008) Serum Response Factor Mediates NGF-Dependent Target Innervation by Embryonic DRG Sensory Neurons. Neuron 58: 532-545. doi: 10.1016/j.neuron.2008.03.006.Serum.
-
(2008)
Neuron
, vol.58
, pp. 532-545
-
-
Wickramasinghe, S.R.1
Alvania, R.S.2
Ramanan, N.3
John, N.4
Mandai, K.5
-
28
-
-
0037095727
-
A dominant negative Egr inhibitor blocks nerve growth factor-induced neurite outgrowth by suppressing c-Jun activation: Role of an Egr/c-Jun complex
-
doi: 20026370
-
Levkovitz Y, Baraban JM (2002) A dominant negative Egr inhibitor blocks nerve growth factor-induced neurite outgrowth by suppressing c-Jun activation: role of an Egr/c-Jun complex. J Neurosci 22: 3845-3854. doi: 20026370.
-
(2002)
J Neurosci
, vol.22
, pp. 3845-3854
-
-
Levkovitz, Y.1
Baraban, J.M.2
-
29
-
-
84902152984
-
A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation
-
Jackson MZ, Gruner Ka, Qin C, Tourtellotte WG (2014) A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation. Development 141: 2452-2461. doi: 10.1242/dev.107797.
-
(2014)
Development
, vol.141
, pp. 2452-2461
-
-
Jackson, M.Z.1
Ka, G.2
Qin, C.3
Tourtellotte, W.G.4
-
30
-
-
84898937370
-
Nuclear and cytosolic JNK signalling in neurons
-
Coffey ET (2014) Nuclear and cytosolic JNK signalling in neurons. Nat Rev Neurosci 15: 285-299. doi: 10.1038/nrn3729.
-
(2014)
Nat Rev Neurosci
, vol.15
, pp. 285-299
-
-
Coffey, E.T.1
-
31
-
-
34548457240
-
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination
-
Cheishvili D, Maayan C, Smith Y, Ast G, Razin A (2007) IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination. Hum Mol Genet 16: 2097-2104. doi: 10.1093/hmg/ddm157.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2097-2104
-
-
Cheishvili, D.1
Maayan, C.2
Smith, Y.3
Ast, G.4
Razin, A.5
-
32
-
-
79953121016
-
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia
-
Cheishvili D, Maayan C, Cohen-Kupiec R, Lefler S, Weil M, et al. (2011) IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia. Hum Mol Genet 20: 1585-1594. doi: 10.1093/hmg/ddr036.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1585-1594
-
-
Cheishvili, D.1
Maayan, C.2
Cohen-Kupiec, R.3
Lefler, S.4
Weil, M.5
-
33
-
-
67649826155
-
Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin
-
Morfini Ga, You Y-M, Pollema SL, Kaminska A, Liu K, et al. (2009) Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin. Nat Neurosci 12: 864-871. doi: 10.1038/nn.2346.
-
(2009)
Nat Neurosci
, vol.12
, pp. 864-871
-
-
Ga, M.1
You, Y.-M.2
Pollema, S.L.3
Kaminska, A.4
Liu, K.5
-
34
-
-
79955729261
-
Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: Implications for familial dysautonomia
-
Cohen-Kupiec R, Pasmanik-Chor M, Oron-Karni V, Weil M (2011) Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. PLoS One 6: e19147. doi:10.1371/journal.pone.0019147.
-
(2011)
PLoS One
, vol.6
, pp. e19147
-
-
Cohen-Kupiec, R.1
Pasmanik-Chor, M.2
Oron-Karni, V.3
Weil, M.4
-
35
-
-
0016399689
-
Current concepts of dysautonomia: Neuropathological defects
-
Pearson J, Axelrod F, Dancis J.
-
Pearson J, Axelrod F, Dancis J (1974) Current Concepts of Dysautonomia: Neuropathological Defects. Ann N Y Acad Sci 228: 288-300. doi: 10.1111/j.1749-6632.1974.tb20517.x.
-
(1974)
Ann N y Acad Sci
, vol.228
, pp. 288-300
-
-
-
36
-
-
0027018236
-
A series of normal stages in the development of the chick embryo 1951
-
Hamburger V, Hamilton HL (1992) A series of normal stages in the development of the chick embryo. 1951. Dev Dyn 195: 231-272. doi: 10.1002/aja.1001950404.
-
(1992)
Dev Dyn
, vol.195
, pp. 231-272
-
-
Hamburger, V.1
Hamilton, H.L.2
-
37
-
-
33845764296
-
A guided tour into subcellular colocalization analysis in light microscopy
-
Bolte S, Cordelières FP (2006) A guided tour into subcellular colocalization analysis in light microscopy. J Microsc 224: 213-232. doi: 10.1111/j.1365-2818.2006.01706.x.
-
(2006)
J Microsc
, vol.224
, pp. 213-232
-
-
Bolte, S.1
Cordelières, F.P.2
|