-
1
-
-
0027486966
-
Lissencephaly. A human brain malformation associated with deletion of the LIS 1 gene located at chromosome 17p13
-
Dobyns, W.B., Reiner, O., Carrozzo, R. & Ledbetter, D.H. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. J. Am. Med. Assoc. 270, 2838-2842 (1993).
-
(1993)
J. Am. Med. Assoc.
, vol.270
, pp. 2838-2842
-
-
Dobyns, W.B.1
Reiner, O.2
Carrozzo, R.3
Ledbetter, D.H.4
-
2
-
-
0025968152
-
Clinical and molecular diagnosis of Miller-Dieker syndrome
-
Dobyns, W.B., Curry, C.J., Hoyme, H.E., Turlington, L. & Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet. 48, 584-594 (1991).
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 584-594
-
-
Dobyns, W.B.1
Curry, C.J.2
Hoyme, H.E.3
Turlington, L.4
Ledbetter, D.H.5
-
3
-
-
0026780723
-
Causal heterogeneity in isolated lissencephaly
-
Dobyns, W.B., Elias, E.R., Newlin, A.C., Pagon, R.A. & Ledbetter, D.H. Causal heterogeneity in isolated lissencephaly. Neurology42, 1375-1388 (1992).
-
(1992)
Neurology
, vol.42
, pp. 1375-1388
-
-
Dobyns, W.B.1
Elias, E.R.2
Newlin, A.C.3
Pagon, R.A.4
Ledbetter, D.H.5
-
4
-
-
0026518338
-
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
-
Ledbetter, S.A., Kuwano, A., Dobyns, W.B. & Ledbetter, D.H. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am. J. Hum. Genet. 50, 182-189 (1992).
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 182-189
-
-
Ledbetter, S.A.1
Kuwano, A.2
Dobyns, W.B.3
Ledbetter, D.H.4
-
5
-
-
0031046839
-
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
-
Chong, S.S. et al. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum. Mol. Genet. 6, 147-155 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 147-155
-
-
Chong, S.S.1
-
6
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats
-
Reiner, O. et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature 364, 717-721 (1993).
-
(1993)
Nature
, vol.364
, pp. 717-721
-
-
Reiner, O.1
-
7
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
-
Lo Nigro, C. et al. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum. Mol. Genet. 6, 157-164 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
-
8
-
-
0031848149
-
Graded reduction of Pafahlbl (Lis1) activity results in neuronal migration defects and early embryonic lethality
-
Hirotsune, S. et al. Graded reduction of Pafahlbl (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat. Genet. 19, 333-339 (1998).
-
(1998)
Nat. Genet.
, vol.19
, pp. 333-339
-
-
Hirotsune, S.1
-
9
-
-
0037336882
-
Multiple dose dependent effects of Lis 1 on cerebral cortical development
-
Gambello, M.J. et al. Multiple dose dependent effects of Lis1 on cerebral cortical development. J. Neurosci. 23, 1719-1729 (2003).
-
(2003)
J. Neurosci.
, vol.23
, pp. 1719-1729
-
-
Gambello, M.J.1
-
10
-
-
14344276586
-
Targeted mutagenesis of Lis 1 disrupts cortical development and LIS1 homodimerization
-
Cahana, A. et al. Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. Proc. Natl. Acad. Sci. USA 98, 6429-6434 (2001).
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 6429-6434
-
-
Cahana, A.1
-
11
-
-
0035868823
-
LIS 1 and dynein motor function in neuronal migration and development
-
Wynshaw-Boris, A. & Gambello, M.J. LIS1 and dynein motor function in neuronal migration and development. Genes Dev. 15, 639-651 (2001).
-
(2001)
Genes Dev.
, vol.15
, pp. 639-651
-
-
Wynshaw-Boris, A.1
Gambello, M.J.2
-
12
-
-
0036250810
-
Life is a journey: A genetic look at neocortical development
-
Gupta, A., Tsai, L.-H. & Wynshaw-Boris, A. Life is a journey: a genetic look at neocortical development. Nat. Rev. Genet. 3, 342-355 (2002).
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 342-355
-
-
Gupta, A.1
Tsai, L.-H.2
Wynshaw-Boris, A.3
-
13
-
-
0034689026
-
Nuclear migration: From fungi to the mammalian brain
-
Morris, R.N. Nuclear migration: from fungi to the mammalian brain. J. Cell Biol. 148, 1097-1101 (2000).
-
(2000)
J. Cell Biol.
, vol.148
, pp. 1097-1101
-
-
Morris, R.N.1
-
14
-
-
0034520597
-
A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system
-
Sasaki, S. et al. A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. Neuron 28, 681-696 (2000).
-
(2000)
Neuron
, vol.28
, pp. 681-696
-
-
Sasaki, S.1
-
15
-
-
0034520636
-
NUDEL is a novel Cdk 5 substrate that associates with LIS1 and cytoplasmic dynein
-
Niethammer, M. et al. NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Neuron 28, 697-711 (2000).
-
(2000)
Neuron
, vol.28
, pp. 697-711
-
-
Niethammer, M.1
-
16
-
-
0029768093
-
Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death
-
Oshima, T. etal. Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death. Proc. Natl. Acad. Sci. USA 93, 11173-11178 (1996).
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 11173-11178
-
-
Oshima, T.1
-
17
-
-
0031018336
-
Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality
-
Chae, T. et al. Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality. Neuron 18, 29-42 (1997).
-
(1997)
Neuron
, vol.18
, pp. 29-42
-
-
Chae, T.1
-
18
-
-
7844223263
-
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
-
Pilz, D.T. et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum. Mol. Genet. 7, 2029-2037 (1998).
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2029-2037
-
-
Pilz, D.T.1
-
19
-
-
0034642292
-
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS 1 gene
-
Cardoso, C. et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum. Mol. Genet. 9, 3019-3028 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 3019-3028
-
-
Cardoso, C.1
-
20
-
-
0034117078
-
14-3-3 Proteins: Structure, function, and regulation
-
Fu, H., Subramanian, R.R. & Masters, S.C. 14-3-3 proteins: structure, function, and regulation. Annu. Rev. Pharmacol. Toxicol. 40, 617-647 (2000).
-
(2000)
Annu. Rev. Pharmacol. Toxicol.
, vol.40
, pp. 617-647
-
-
Fu, H.1
Subramanian, R.R.2
Masters, S.C.3
-
21
-
-
0034528346
-
14-3-3 Proteins: Regulation of subcellular localization by molecular interference
-
Muslin, A.J. & Xing, H. 14-3-3 proteins: regulation of subcellular localization by molecular interference. Cell. Signal. 12, 703-709 (2000).
-
(2000)
Cell. Signal.
, vol.12
, pp. 703-709
-
-
Muslin, A.J.1
Xing, H.2
-
22
-
-
0036479325
-
14-3-3 Proteins: Active cofactors in cellular regulation by serine/threonine phosphorylation
-
Tzivion, G. & Avruch, J. 14-3-3 proteins: active cofactors in cellular regulation by serine/threonine phosphorylation. J. Biol. Chem. 277, 3061-3064 (2002).
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 3061-3064
-
-
Tzivion, G.1
Avruch, J.2
-
23
-
-
0029871708
-
Interaction of 14-3- 3 with signaling proteins is mediated by the recognition of phosphoserine
-
Muslin, A.J., Tanner, J.W., Allen, P.M. & Shaw, A.S. Interaction of 14-3-3 with signaling proteins is mediated by the recognition of phosphoserine. Cell 84, 889-897 (1996).
-
(1996)
Cell
, vol.84
, pp. 889-897
-
-
Muslin, A.J.1
Tanner, J.W.2
Allen, P.M.3
Shaw, A.S.4
-
24
-
-
0031470652
-
The structural basis for 14-3-3: Phosphopeptide binding specificity
-
Yaffe, M.B. et al. The structural basis for 14-3-3: phosphopeptide binding specificity. Cell 91, 961-971 (1997).
-
(1997)
Cell
, vol.91
, pp. 961-971
-
-
Yaffe, M.B.1
-
25
-
-
0037385481
-
Refinement of a 400 kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome and other phenotypes secondary to deletions of 17p13.3
-
Cardoso, C. et al. Refinement of a 400 kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918-930 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 918-930
-
-
Cardoso, C.1
-
26
-
-
0029784284
-
Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration
-
Bermingham, J. et al. Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration. Genes Dev. 10, 1751-1762 (1996).
-
(1996)
Genes Dev.
, vol.10
, pp. 1751-1762
-
-
Bermingham, J.1
-
27
-
-
0034175676
-
Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly
-
Fleck, M.W. et al. Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. J. Neurosci. 20, 2439-2450 (2000).
-
(2000)
J. Neurosci.
, vol.20
, pp. 2439-2450
-
-
Fleck, M.W.1
-
28
-
-
0033428894
-
Mammalian Cdk5 is a functional homologue of the budding yeast Pho85 cyclin-dependent protein kinase
-
Huang, D., Patrick, G., Moffat, J., Tsai, L.H. & Andrews, B. Mammalian Cdk5 is a functional homologue of the budding yeast Pho85 cyclin-dependent protein kinase. Proc. Natl. Acad. Sci. USA 96, 14445-14450 (1999).
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 14445-14450
-
-
Huang, D.1
Patrick, G.2
Moffat, J.3
Tsai, L.H.4
Andrews, B.5
-
29
-
-
0035896503
-
Amphiphysin 1 binds the cyclin-dependent kinase (cdk) regulatory subunit p 35 and is phosphorylated by dck5 and cdk2
-
Floyd, S.R. et al. Amphiphysin 1 binds the cyclin-dependent kinase (cdk) regulatory subunit p35 and is phosphorylated by dck5 and cdk2. J. Biol. Chem. 276, 8104-8110 (2001).
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 8104-8110
-
-
Floyd, S.R.1
-
30
-
-
0033769717
-
Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis 1
-
Smith, D.S. et al. Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1. Nat. Cell Biol. 2, 767-775 (2000).
-
(2000)
Nat. Cell Biol.
, vol.2
, pp. 767-775
-
-
Smith, D.S.1
-
31
-
-
0037315489
-
Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle
-
Yan, X. et al. Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle. Mol. Cell Biol. 23, 1239-1250 (2003).
-
(2003)
Mol. Cell Biol.
, vol.23
, pp. 1239-1250
-
-
Yan, X.1
-
32
-
-
0029829237
-
14-3-3 Proteins associate with A20 in an isoform-specific manner and function both as chaperone and adapter molecules
-
Vincenz, C. & Dixit, V.M. 14-3-3 proteins associate with A20 in an isoform-specific manner and function both as chaperone and adapter molecules. J. Biol. Chem. 271, 20029-20034 (1996).
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 20029-20034
-
-
Vincenz, C.1
Dixit, V.M.2
-
33
-
-
0034650872
-
14-3-3 Isotypes facilitate coupling of protein kinase C-zeta to Raf-1: Negative regulation by 14-3- 3 phosphorylation
-
Van Der Hoeven, P.C., Van Der Wal, J.C., Ruurs, P., Van Dijk, M.C. & Van Blitterswijk, J. 14-3-3 isotypes facilitate coupling of protein kinase C-zeta to Raf-1: negative regulation by 14-3-3 phosphorylation. Biochem. J. 345, 297-306 (2000).
-
(2000)
Biochem. J.
, vol.345
, pp. 297-306
-
-
Van Der Hoeven, P.C.1
Van Der Wal, J.C.2
Ruurs, P.3
Van Dijk, M.C.4
Van Blitterswijk, J.5
-
34
-
-
0030999664
-
14-3-3 Epsilon positively regulates Ras-mediated signaling in Drosophila
-
Chang, H.C. & Rubin, G.M. 14-3-3 epsilon positively regulates Ras-mediated signaling in Drosophila. Genes Dev. 11, 1132-1139 (1997).
-
(1997)
Genes Dev.
, vol.11
, pp. 1132-1139
-
-
Chang, H.C.1
Rubin, G.M.2
-
35
-
-
0030822692
-
Leonardo, a Drosophila 14-3-3 protein involved in learning, regulates presynaptic function
-
Broadie, K., Rushton, E., Skoulakis, E.M. & Davis, R.L. Leonardo, a Drosophila 14-3-3 protein involved in learning, regulates presynaptic function. Neuron 19, 391-402 (1997).
-
(1997)
Neuron
, vol.19
, pp. 391-402
-
-
Broadie, K.1
Rushton, E.2
Skoulakis, E.M.3
Davis, R.L.4
-
36
-
-
0030294611
-
Olfactory learning deficits in mutants for leonardo, a Drosophila gene encoding a 14-3-3 protein
-
Skoulakis, E.M. & Davis, R.L. Olfactory learning deficits in mutants for leonardo, a Drosophila gene encoding a 14-3-3 protein. Neuron 17, 931-944 (1996).
-
(1996)
Neuron
, vol.17
, pp. 931-944
-
-
Skoulakis, E.M.1
Davis, R.L.2
-
37
-
-
0033777678
-
A role for the lissencephaly gene LIS 1 in mitosis and cytoplasmic dynein function
-
Faulkner, N.E. et al. A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat. Cell Biol. 2, 784-791 (2000).
-
(2000)
Nat. Cell Biol.
, vol.2
, pp. 784-791
-
-
Faulkner, N.E.1
-
38
-
-
0033778276
-
Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport
-
Liu, Z., Steward, R. & Luo, L. Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport. Nat. Cell Biol. 2, 776-783 (2000).
-
(2000)
Nat. Cell Biol.
, vol.2
, pp. 776-783
-
-
Liu, Z.1
Steward, R.2
Luo, L.3
-
39
-
-
0034517593
-
Interactions between LIS1 and mNudE, a central component of the centrosome, are required for CNS lamination
-
Feng, Y. et al. Interactions between LIS1 and mNudE, a central component of the centrosome, are required for CNS lamination. Neuron 28, 665-679 (2000).
-
(2000)
Neuron
, vol.28
, pp. 665-679
-
-
Feng, Y.1
-
40
-
-
0029022205
-
Neuronal cyclin-dependent kinase-5 phosphorylation sites in neuro-filament protein (NF-H) are dephosphorylated by protein phosphatase 2A
-
Veeranna et al. Neuronal cyclin-dependent kinase-5 phosphorylation sites in neuro-filament protein (NF-H) are dephosphorylated by protein phosphatase 2A. J. Neurochem. 64, 2681-2690 (1995).
-
(1995)
J. Neurochem.
, vol.64
, pp. 2681-2690
-
-
Veeranna1
-
41
-
-
0030461275
-
Regulation of the phosphorylation state and microtubule-binding activity of Tau by protein phosphatase 2A
-
Sontag, E. et al. Regulation of the phosphorylation state and microtubule-binding activity of Tau by protein phosphatase 2A. Neuron 17, 1201-1207 (1996).
-
(1996)
Neuron
, vol.17
, pp. 1201-1207
-
-
Sontag, E.1
-
42
-
-
0032743059
-
An anchoring factor targets protein phosphatase 2A to brain microtubules
-
Price, N.E., Wadzinski, B. & Mumby, M.C. An anchoring factor targets protein phosphatase 2A to brain microtubules. Brain Res. Mol. Brain Res. 73, 68-77 (1999).
-
(1999)
Brain Res. Mol. Brain Res.
, vol.73
, pp. 68-77
-
-
Price, N.E.1
Wadzinski, B.2
Mumby, M.C.3
-
43
-
-
0033520355
-
Molecular interactions among protein phosphatase 2A, tau, and microtubules. Implications for the regulation of tau phosphorylation and the development of tauopathies
-
Sontag, E. et al. Molecular interactions among protein phosphatase 2A, tau, and microtubules. Implications for the regulation of tau phosphorylation and the development of tauopathies. J. Biol. Chem. 274, 25490-25498 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 25490-25498
-
-
Sontag, E.1
-
44
-
-
0029074207
-
The role of Saccharomyces cerevisiaetype 2A phosphatase in the actin cytoskeleton and entry into mitosis
-
Lin, F.C. & Arndt, K.T. The role of Saccharomyces cerevisiaetype 2A phosphatase in the actin cytoskeleton and entry into mitosis. EMBO J. 14, 2745-2759 (1995).
-
(1995)
EMBO J.
, vol.14
, pp. 2745-2759
-
-
Lin, F.C.1
Arndt, K.T.2
-
45
-
-
0032514680
-
Delayed embryonic lethality in mice lacking protein phosphatase 2A catalytic subunit Cα
-
Gotz, J., Probst, A., Ehler, E., Hemmings, B. & Kues, W. Delayed embryonic lethality in mice lacking protein phosphatase 2A catalytic subunit Cα. Proc. Natl. Acad. Sci. USA 95, 12370-12375 (1998).
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 12370-12375
-
-
Gotz, J.1
Probst, A.2
Ehler, E.3
Hemmings, B.4
Kues, W.5
-
46
-
-
0031771750
-
Physiological signals and oncogenesis mediated through Crk family adapter proteins
-
Feller, S. et al. Physiological signals and oncogenesis mediated through Crk family adapter proteins. J. Cell Physiol. 177, 535-552 (1998).
-
(1998)
J. Cell Physiol.
, vol.177
, pp. 535-552
-
-
Feller, S.1
-
47
-
-
0036251947
-
Signaling adaptor protein v-Crk activates rho and regulates cell motility in 3Y1 rat fibroblast cell line
-
Tsuda, M., Tanaka, S., Sawa, H., Hanafusa, H. & Nagashima, K. Signaling adaptor protein v-Crk activates rho and regulates cell motility in 3Y1 rat fibroblast cell line. Cell. Growth Differ. 13, 131-139 (2002).
-
(2002)
Cell. Growth Differ.
, vol.13
, pp. 131-139
-
-
Tsuda, M.1
Tanaka, S.2
Sawa, H.3
Hanafusa, H.4
Nagashima, K.5
-
48
-
-
0032813430
-
Targeted expression of an oncogenic adaptor protein v-Crk potentiates axonal growth in dorsal root ganglia and motor neurons in vivo
-
Weinstein, D.E., Dobrenis, K. & Birge, R.B. Targeted expression of an oncogenic adaptor protein v-Crk potentiates axonal growth in dorsal root ganglia and motor neurons in vivo. Brain Res. Dev. Brain Res. 116, 29-39 (1999).
-
(1999)
Brain Res. Dev. Brain Res.
, vol.116
, pp. 29-39
-
-
Weinstein, D.E.1
Dobrenis, K.2
Birge, R.B.3
-
49
-
-
0030808960
-
Genomic organization of the murine Miller-Dieker/lissencephaly region: Conservation of linkage with the human region
-
Hirotsune, S. etal. Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. Genome Res. 7, 625-634 (1997).
-
(1997)
Genome Res.
, vol.7
, pp. 625-634
-
-
Hirotsune, S.1
-
50
-
-
0035100658
-
Protein phosphatase 2A: The Trojan Horse of cellular signaling
-
Sontag, E. Protein phosphatase 2A: the Trojan Horse of cellular signaling. Cell. Signal. 13, 7-16 (2001).
-
(2001)
Cell. Signal.
, vol.13
, pp. 7-16
-
-
Sontag, E.1
|