Therapeutics development for triplet repeat expansion diseases

被引：118

作者：

Di Prospero, NA ^{[1
]}

Fischbeck, KH ^{[1
]}

机构：

[1] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 10期

关键词：

D O I：

10.1038/nrg1690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of model systems for investigating disease mechanisms and evaluating treatments. Examination of experimental findings reveals similarities in disease mechanisms as well as possibilities for treatment.

引用

页码：756 / 765

页数：10

共 134 条

[91] Polyglutamine diseases: a transcription disorder? [J].

Okazawa, H .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2003, 60 (07) :1427-1439

[92] Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease [J].

Ona, VO ;

Li, MW ;

Vonsattel, JPG ;

Andrews, LJ ;

Khan, SQ ;

Chung, WM ;

Frey, AS ;

Menon, AS ;

Li, XJ ;

Stieg, PE ;

Yuan, JY ;

Penney, JB ;

Young, AB ;

Cha, JHJ ;

Friedlander, RM .

NATURE, 1999, 399 (6733) :263-267

[93] Molecular basis of Friedreich ataxia [J].

Pandolfo, M .

MOVEMENT DISORDERS, 2001, 16 (05) :815-821

[94] Resveratrol rescues mutant polyglutamine cytotoxicity in nematode and mammalian neurons [J].

Parker, JA ;

Arango, M ;

Abderrahmane, S ;

Lambert, E ;

Tourette, C ;

Catoire, H ;

Néri, C .

NATURE GENETICS, 2005, 37 (04) :349-350

[95] Modulation of methylation in the FMR1 promoter region after long term treatment with L-carnitine and acetyl-L-carnitine -: art. no. e76 [J].

Pascale, E ;

Battiloro, E ;

Reale, GC ;

Pietrobono, R ;

Pomponi, MG ;

Chiurazzi, P ;

Nicolai, R ;

Calvani, M ;

Neri, G ;

D'Ambrosio, E .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (06)

[96] Brain-derived neurotrophic factor, neurotrophin-3, and neurotrophin-4/5 prevent the death of striatal projection neurons in a rodent model of Huntington's disease [J].

Pérez-Navarro, E ;

Canudas, AM ;

Åkerud, P ;

Alberch, J ;

Arenas, E .

JOURNAL OF NEUROCHEMISTRY, 2000, 75 (05) :2190-2199

[97] Ribozyme-mediated trans-splicing of a trinucleotide repeat [J].

Phylactou, LA ;

Darrah, C ;

Wood, MJA .

NATURE GENETICS, 1998, 18 (04) :378-381

[98] ABSENCE OF EXPRESSION OF THE FMR-1 GENE IN FRAGILE-X SYNDROME [J].

PIERETTI, M ;

ZHANG, FP ;

FU, YH ;

WARREN, ST ;

OOSTRA, BA ;

CASKEY, CT ;

NELSON, DL .

CELL, 1991, 66 (04) :817-822

[99] STUDY OF INTRACELLULAR IRON-METABOLISM USING PYRIDOXAL ISONICOTINOYL HYDRAZONE AND OTHER SYNTHETIC CHELATING-AGENTS [J].

PONKA, P ;

BOROVA, J ;

NEUWIRT, J ;

FUCHS, O ;

NECAS, E .

BIOCHIMICA ET BIOPHYSICA ACTA, 1979, 586 (02) :278-297

[100] Blockade of striatal adenosine A2A receptor reduces, through a presynaptic mechanism, quinolinic acid-induced excitotoxicity:: Possible relevance to neuroprotective interventions in neurodegenerative diseases of the striatum [J].

Popoli, P ;

Pintor, A ;

Domenici, MR ;

Frank, C ;

Tebano, MT ;

Pèzzola, A ;

Scarchilli, L ;

Quarta, D ;

Reggio, R ;

Malchiodi-Albedi, F ;

Falchi, M ;

Massotti, M .

JOURNAL OF NEUROSCIENCE, 2002, 22 (05) :1967-1975

← 5 6 7 8 9 10 11 12 13 14 →