CRALBP and inherited retinal degeneration

被引：4

作者：

Kennedy, BN ^{[1
]}

Saari, JC ^{[1
]}

Crabb, JW ^{[1
]}

机构：

[1] Univ Notre Dame, Dept Biol Sci, Ctr Transgene Res, Notre Dame, IN 46556 USA

来源：

RETINAL DEGENERATIVE DISEASES AND EXPERIMENTAL THERAPY | 1999年

关键词：

D O I：

10.1007/978-0-585-33172-0_5

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Missense mutations in the gene encoding cellular retinaldehyde-binding protein (CRALBP) associate with early onset autosomal recessive retinitis pigmentosa (arRP). We show here liquid chromatography electrospray mass spectrometric results from recombinant mutant CRALBP that were instrumental in establishing that the arRP modification was responsible for a loss of protein function. Tn addition, we present progress in the development of CRALBP knockout mice for studying in vivo functions and therapeutic approaches to retinal degenerations related to CRALBP.

引用

页码：43 / 53

页数：11

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