共 99 条
Splicing regulation in neurologic disease
被引:203
作者:

Licatalosi, Donny D.
论文数: 0 引用数: 0
h-index: 0
机构: Rockefeller Univ, Howard Hughes Med Inst, New York, NY 10021 USA

Darnell, Robert B.
论文数: 0 引用数: 0
h-index: 0
机构: Rockefeller Univ, Howard Hughes Med Inst, New York, NY 10021 USA
机构:
[1] Rockefeller Univ, Howard Hughes Med Inst, New York, NY 10021 USA
[2] Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA
来源:
关键词:
D O I:
10.1016/j.neuron.2006.09.017
中图分类号:
Q189 [神经科学];
学科分类号:
071006 ;
摘要:
The importance of alternative splicing in the regulation of diverse biological processes is reflected in the growing list of human diseases associated with known or suspected splicing defects. It is becoming evident that alternative splicing plays a particularly important role in neurologic disease, which is perhaps not surprising given the important role splicing plays in generating complexity and function in the brain. This review considers the evidence that defects in regulation of splicing may underlie many types of human neurologic diseases.
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页码:93 / 101
页数:9
相关论文
共 99 条
[31]
5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
[J].
Grover, A
;
Houlden, H
;
Baker, M
;
Adamson, J
;
Lewis, J
;
Prihar, G
;
Pickering-Brown, S
;
Duff, K
;
Hutton, M
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
1999, 274 (21)
:15134-15143

Grover, A
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Houlden, H
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Baker, M
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Adamson, J
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Lewis, J
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Prihar, G
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Pickering-Brown, S
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Duff, K
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA

Hutton, M
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin Jacksonville, Jacksonville, FL 32224 USA
[32]
The SMN complex
[J].
Gubitz, AK
;
Feng, WQ
;
Dreyfuss, G
.
EXPERIMENTAL CELL RESEARCH,
2004, 296 (01)
:51-56

Gubitz, AK
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Howard Hughes Med Inst, Dept Biochem & Biophys, Philadelphia, PA 19104 USA Univ Penn, Sch Med, Howard Hughes Med Inst, Dept Biochem & Biophys, Philadelphia, PA 19104 USA

Feng, WQ
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Howard Hughes Med Inst, Dept Biochem & Biophys, Philadelphia, PA 19104 USA Univ Penn, Sch Med, Howard Hughes Med Inst, Dept Biochem & Biophys, Philadelphia, PA 19104 USA

Dreyfuss, G
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Howard Hughes Med Inst, Dept Biochem & Biophys, Philadelphia, PA 19104 USA Univ Penn, Sch Med, Howard Hughes Med Inst, Dept Biochem & Biophys, Philadelphia, PA 19104 USA
[33]
The fragile-X premutation: A maturing perspective
[J].
Hagerman, PJ
;
Hagerman, RJ
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2004, 74 (05)
:805-816

Hagerman, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Hagerman, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
[34]
A combinatorial code for splicing silencing: UAGG and GGGG motifs
[J].
Han, K
;
Yeo, G
;
An, P
;
Burge, CB
;
Grabowski, PJ
.
PLOS BIOLOGY,
2005, 3 (05)
:843-860

Han, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA

Yeo, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA

An, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA

Burge, CB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA

Grabowski, PJ
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA
[35]
FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
[J].
Hasegawa, M
;
Smith, MJ
;
Iijima, M
;
Tabira, T
;
Goedert, M
.
FEBS LETTERS,
1999, 443 (02)
:93-96

Hasegawa, M
论文数: 0 引用数: 0
h-index: 0
机构: MRC, Mol Biol Lab, Cambridge CB2 2QH, England

Smith, MJ
论文数: 0 引用数: 0
h-index: 0
机构: MRC, Mol Biol Lab, Cambridge CB2 2QH, England

Iijima, M
论文数: 0 引用数: 0
h-index: 0
机构: MRC, Mol Biol Lab, Cambridge CB2 2QH, England

Tabira, T
论文数: 0 引用数: 0
h-index: 0
机构: MRC, Mol Biol Lab, Cambridge CB2 2QH, England

Goedert, M
论文数: 0 引用数: 0
h-index: 0
机构: MRC, Mol Biol Lab, Cambridge CB2 2QH, England
[36]
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
[J].
Holmes, SE
;
O'Hearn, E
;
Rosenblatt, A
;
Callahan, C
;
Hwang, HS
;
Ingersoll-Ashworth, RG
;
Fleisher, A
;
Stevanin, G
;
Brice, A
;
Potter, NT
;
Ross, CA
;
Margolis, RL
.
NATURE GENETICS,
2001, 29 (04)
:377-378

Holmes, SE
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

O'Hearn, E
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Rosenblatt, A
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Callahan, C
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Hwang, HS
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Ingersoll-Ashworth, RG
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Fleisher, A
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Stevanin, G
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Potter, NT
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Ross, CA
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

Margolis, RL
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA
[37]
A mouse model for spinal muscular atrophy
[J].
Hsieh-Li, HM
;
Chang, JG
;
Jong, YJ
;
Wu, MH
;
Wang, NM
;
Tsai, CH
;
Li, H
.
NATURE GENETICS,
2000, 24 (01)
:66-70

Hsieh-Li, HM
论文数: 0 引用数: 0
h-index: 0
机构: Acad Sinica, Inst Mol Biol, Taipei, Taiwan

Chang, JG
论文数: 0 引用数: 0
h-index: 0
机构: Acad Sinica, Inst Mol Biol, Taipei, Taiwan

Jong, YJ
论文数: 0 引用数: 0
h-index: 0
机构: Acad Sinica, Inst Mol Biol, Taipei, Taiwan

Wu, MH
论文数: 0 引用数: 0
h-index: 0
机构: Acad Sinica, Inst Mol Biol, Taipei, Taiwan

Wang, NM
论文数: 0 引用数: 0
h-index: 0
机构: Acad Sinica, Inst Mol Biol, Taipei, Taiwan

Tsai, CH
论文数: 0 引用数: 0
h-index: 0
机构: Acad Sinica, Inst Mol Biol, Taipei, Taiwan

Li, H
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Sinica, Inst Mol Biol, Taipei, Taiwan Acad Sinica, Inst Mol Biol, Taipei, Taiwan
[38]
Common molecular pathways mediate long-term potentiation of synaptic excitation and slow synaptic inhibition
[J].
Huang, CS
;
Shi, SH
;
Ule, J
;
Ruggiu, M
;
Barker, LA
;
Darnell, RB
;
Jan, YN
;
Jan, LY
.
CELL,
2005, 123 (01)
:105-118

Huang, CS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Shi, SH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Ule, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Ruggiu, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Barker, LA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Darnell, RB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Jan, YN
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA

Jan, LY
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA 94143 USA
[39]
Protein composition of the intranuclear inclusions of FXTAS
[J].
Iwahashi, CK
;
Yasui, DH
;
An, HJ
;
Greco, CM
;
Tassone, F
;
Nannen, K
;
Babineau, B
;
Lebrilla, CB
;
Hagerman, RJ
;
Hagerman, PJ
.
BRAIN,
2006, 129
:256-271

Iwahashi, CK
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Yasui, DH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

An, HJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Greco, CM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

论文数: 引用数:
h-index:
机构:

Nannen, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Babineau, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Lebrilla, CB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Hagerman, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

Hagerman, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
[40]
Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability
[J].
Jensen, KB
;
Dredge, BK
;
Stefani, G
;
Zhong, R
;
Buckanovich, RJ
;
Okano, HJ
;
Yang, YYL
;
Darnell, RB
.
NEURON,
2000, 25 (02)
:359-371

Jensen, KB
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Dredge, BK
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Stefani, G
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Zhong, R
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Buckanovich, RJ
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Okano, HJ
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Yang, YYL
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA

Darnell, RB
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10021 USA