Nuclear ataxias.
Historically basic neuroscience research has made several important contributions to the cell biology of the nucleus, in particular the elucidation of nuclear structures and compartments. As research progressed towards elucidating the mechanism of neurological disease at the cellular and molecular levels, it is now providing insight into the importance and basis of coordination of nuclear pathways within the nucleus and with other cellular compartments. Ataxias, lethal neurodegenerative diseases that are distinguished by a progressive loss of motor coordination, stem from disruption of nuclear function.
Orr
Harry T
HT
Institute of Translational Neuroscience, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA. orrxx002@umn.edu
D001259:Ataxia / Q000235:genetics / Q000473:pathology*; D002467:Cell Nucleus; D004260:DNA Repair; D006801:Humans; D014158:Transcription, Genetic
Nat Genet. 1993 Jul;4(3):221-6
8358429
Am J Hum Genet. 1998 Aug;63(2):317-21
9683623
Nat Rev Neurosci. 2007 May;8(5):368-78
17453017
Curr Opin Cell Biol. 2003 Jun;15(3):326-31
12787775
Hum Mol Genet. 2001 Jul 1;10(14):1441-8
11448935
Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4047-52
15016912
Nature. 1996 Feb 22;379(6567):736-9
8602221
Cell. 1988 Dec 2;55(5):887-98
3142690
Neuron. 2007 Oct 4;56(1):94-108
17920018
Nat Genet. 2001 Oct;29(2):184-8
11586299
J Neurochem. 2006 Jun;97(6):1690-9
16805777
Science. 2009 May 15;324(5929):929-30
19372393
Chromosoma. 2009 Aug;118(4):437-43
19404660
Cell. 1998 Oct 2;95(1):55-66
9778247
Cell. 2006 Nov 17;127(4):697-708
17110330
Nat Rev Mol Cell Biol. 2003 Dec;4(12):975-80
14685175
Mol Cancer Res. 2003 Jan;1(3):207-18
12556560
Proc Natl Acad Sci U S A. 1997 May 27;94(11):5831-6
9159160
Nature. 1992 Sep 24;359(6393):288-94
1406932
Nature. 1992 Sep 24;359(6393):295-300
1406933
Nat Rev Neurosci. 2004 Aug;5(8):641-55
15263894
Nature. 2008 Apr 10;452(7188):713-8
18337722
Nature. 2002 Apr 4;416(6880):499-506
11932736
Nat Rev Mol Cell Biol. 2002 May;3(5):317-27
11988766
Nature. 2005 Mar 3;434(7029):108-13
15744309
Science. 1998 Sep 11;281(5383):1677-9
9733515
Annu Rev Neurosci. 2007;30:575-621
17417937
Bioessays. 2001 Sep;23(9):775-87
11536290
Genes Dev. 2001 Apr 15;15(8):925-32
11316786
Curr Opin Cell Biol. 2008 Jun;20(3):260-5
18436438
Science. 1998 Sep 11;281(5383):1674-7
9733514
Nat Rev Genet. 2005 Oct;6(10):743-55
16205714
Arch Neurol. 2004 Aug;61(8):1314-20
15313853
Science. 1995 Jun 23;268(5218):1749-53
7792600
Neuron. 1992 Nov;9(5):955-66
1419002
Genes Dev. 2001 Oct 15;15(20):2720-9
11641277
J Cell Sci. 2005 Jan 1;118(Pt 1):233-42
15615787
Mol Cell. 1999 Jun;3(6):717-27
10394360
Genes Dev. 1996 Oct 1;10(19):2411-22
8843194
Ann Neurol. 2003 Sep;54(3):367-75
12953269
Cell. 1996 Jul 12;86(1):159-71
8689683
Structure. 2009 Sep 9;17(9):1205-12
19748341
EMBO J. 1996 Nov 15;15(22):6178-88
8947040
Nature. 1992 Sep 24;359(6393):328-30
1406937
Nature. 2006 Oct 12;443(7112):713-6
16964241
Nat Genet. 1998 Dec;20(4):398-400
9843217
Nat Rev Mol Cell Biol. 2003 Sep;4(9):690-9
14506472
Neuron. 2002 May 30;34(5):701-13
12062018
Nat Med. 2005 May;11(5):538-44
15821748
Hum Mol Genet. 2001 Jan 1;10(1):25-30
11136710
Mol Cell Neurosci. 1997 Jan;9(1):42-62
9204479
Crit Rev Biochem Mol Biol. 2006 May-Jun;41(3):105-78
16858867
Neuron. 1999 Dec;24(4):879-92
10624951
Neuron. 2005 Jun 16;46(6):845-8
15953413
Cell. 2002 May 3;109(3):285-96
12015979
Neuron. 2003 May 8;38(3):375-87
12741986
FEBS Lett. 2003 Sep 11;551(1-3):107-12
12965213
Biochemistry. 2002 Jul 23;41(29):9003-14
12119013
Cell. 2007 Sep 21;130(6):991-1004
17889645
Cell. 2005 Aug 26;122(4):633-44
16122429
Nat Rev Mol Cell Biol. 2008 Oct;9(10):759-69
18813293
Nat Med. 2004 Jul;10 Suppl:S10-7
15272267
Cell. 1998 Oct 2;95(1):41-53
9778246
Proc Natl Acad Sci U S A. 1992 Feb 15;89(4):1194-8
1311085
Proc Natl Acad Sci U S A. 2005 Aug 9;102(32):11402-7
16076956
J Biol Chem. 2004 Jan 30;279(5):3758-65
14583607
Cell. 2006 Dec 29;127(7):1335-47
17190598
Nat Neurosci. 2007 Dec;10(12):1519-28
17994014
Mol Cell Neurosci. 1995 Apr;6(2):153-67
7551567
Nature. 1968 May 18;218(5142):652-6
5655953
J Biol Chem. 2005 Jun 10;280(23):21942-8
15824120
Mol Cell Neurosci. 1998 Sep;12(1-2):16-28
9770337
Mol Cell. 1998 Sep;2(3):293-304
9774968