Repeat Expansion Disorders: Mechanisms and Therapeutics

被引:21
作者
Ellerby, Lisa M. [1 ]
机构
[1] Buck Inst Res Aging, 8001 Redwood Blvd, Novato, CA 94945 USA
关键词
HUNTINGTIN REDUCES TOXICITY; CASPASE CLEAVAGE; TRINUCLEOTIDE REPEAT; ANDROGEN RECEPTOR; KENNEDYS-DISEASE; GENE; IDENTIFICATION; FRAGMENTS; PROTEIN; CLONING;
D O I
10.1007/s13311-019-00823-3
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:924 / 927
页数:4
相关论文
共 32 条
[1]   Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease [J].
Arnold, Frederick J. ;
Merry, Diane E. .
NEUROTHERAPEUTICS, 2019, 16 (04) :928-947
[2]   X-Linked Dystonia-Parkinsonism: recent advances [J].
Bragg, D. Cristopher ;
Sharma, Nutan ;
Ozelius, Laurie J. .
CURRENT OPINION IN NEUROLOGY, 2019, 32 (04) :604-609
[3]   Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].
Campuzano, V ;
Montermini, L ;
Molto, MD ;
Pianese, L ;
Cossee, M ;
Cavalcanti, F ;
Monros, E ;
Rodius, F ;
Duclos, F ;
Monticelli, A ;
Zara, F ;
Canizares, J ;
Koutnikova, H ;
Bidichandani, SI ;
Gellera, C ;
Brice, A ;
Trouillas, P ;
DeMichele, G ;
Filla, A ;
DeFrutos, R ;
Palau, F ;
Patel, PI ;
DiDonato, S ;
Mandel, JL ;
Cocozza, S ;
Koenig, M ;
Pandolfo, M .
SCIENCE, 1996, 271 (5254) :1423-1427
[4]  
CREUSMUNCUNILL J, 2019, NEUROTHERAPEUTICS
[5]   From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation [J].
Da Silva, Jorge Diogo ;
Teixeira-Castro, Andreia ;
Maciel, Patricia .
NEUROTHERAPEUTICS, 2019, 16 (04) :1009-1031
[6]  
Egorova PA, 2019, NEUROTHERAPEUTICS
[7]   Kennedy's disease: Caspase cleavage of the androgen receptor is a crucial event in cytotoxicity [J].
Ellerby, LM ;
Hackam, AS ;
Propp, SS ;
Ellerby, HM ;
Rabizadeh, S ;
Cashman, NR ;
Trifiro, MA ;
Pinsky, L ;
Wellington, CL ;
Salvesen, GS ;
Hayden, MR ;
Bredesen, DE .
JOURNAL OF NEUROCHEMISTRY, 1999, 72 (01) :185-195
[8]   Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity [J].
Ellerby, LM ;
Andrusiak, RL ;
Wellington, CL ;
Hackam, AS ;
Propp, SS ;
Wood, JD ;
Sharp, AH ;
Margolis, RL ;
Ross, CA ;
Salvesen, GS ;
Hayden, MR ;
Bredesen, DE .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (13) :8730-8736
[9]   Inhibition of calpain cleavage of huntingtin reduces toxicity - Accumulation of calpain/caspase fragments in the nucleus [J].
Gafni, J ;
Hermel, E ;
Young, JE ;
Wellington, CL ;
Hayden, MR ;
Ellerby, LM .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (19) :20211-20220
[10]   Caspase-6 Activity in a BACHD Mouse Modulates Steady-State Levels of Mutant Huntingtin Protein But Is Not Necessary for Production of a 586 Amino Acid Proteolytic Fragment [J].
Gafni, Juliette ;
Papanikolaou, Theodora ;
DeGiacomo, Francesco ;
Holcomb, Jennifer ;
Chen, Sylvia ;
Menalled, Liliana ;
Kudwa, Andrea ;
Fitzpatrick, Jon ;
Miller, Sam ;
Ramboz, Sylvie ;
Tuunanen, Pasi I. ;
Lehtimaki, Kimmo K. ;
Yang, X. William ;
Park, Larry ;
Kwak, Seung ;
Howland, David ;
Park, Hyunsun ;
Ellerby, Lisa M. .
JOURNAL OF NEUROSCIENCE, 2012, 32 (22) :7454-7465