Loss-of-function genetic diseases and the concept of pharmaceutical targets

Orphanet Journal of Rare Diseases

Volumn 2, Issue 1, 2007, Pages

  Ségalat, Laurent ^a  

^a UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CLASSIFICATION; DRUG DELIVERY SYSTEM; DRUG DESIGN; DRUG SCREENING; GENETIC DISORDER; HUMAN; METHODOLOGY; PATHOPHYSIOLOGY; REVIEW;

DRUG DELIVERY SYSTEMS; DRUG DESIGN; DRUG EVALUATION; GENETIC DISEASES, INBORN; HUMANS;

EID: 34547689085     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-2-30     Document Type: Review

References (10)

1. Lindsay MA: Target discovery. Nat Rev Drug Discov 2003, 2(10):831-838.
2. Brinkman RR, Dube MP, Rouleau GA, Orr AC, Samuels ME: Human monogenic disorders - a source of novel drug targets. Not Rev Genet 2006, 7(4):249-260.
3. Sams-Dood F: Target-based drug discovery : is something wrong? Drug Discovery Today 2005, 10:139-147.
4. Sams-Dood F: Drug Discovery : selecting the optimal approach. Drug Discovery Today 2006, 11:465-472.
5. Ceccarelli M, Rossi B, Siciliano G, Calevro L, Tarantino E: Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine. Acta Paediatr 1992, 81:453-455.
6. Dubowitz V: What is muscular dystrophy? Forty years of progressive ignorance. J R Coll Physicians Lond 2000, 34:464-468.
7. Rando TA: The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve 2001, 24:1575-1594.
8. Meister G, Eggert C, Fischer U: SMN-mediated assembly of RNPs: a complex story. Trends Cell Biol 2002, 12:472-478.
9. Eggert C, Chari A, Laggerbauer B, Fischer U: Spinal muscular atrophy: the RNP connection. Trends Mol Med 2006, 12:113-121.
10. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rotig A: Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999, 354(9177):477-479.