Models of Photoreceptor Disease

光感受器疾病模型

• 批准号: 7404438
• 负责人: Michael A Sandberg
• 金额: $ 33.21万
• 依托单位: HARVARD MEDICAL SCHOOL
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-02-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7404438
• 关键词: Actins; Binding; Biological; Cell membrane; Cells; Cellular biology; Chromosome Pairing; Cilia; Complement; Complex; Cytoskeleton; Data; Defect; Diffusion; Disease; Docking; Genetic; Genetic Models; Guanine Nucleotide Exchange Factors; In Vitro; Inherited; Knowledge; Lateral; Membrane; Membrane Proteins; Membrane Transport Proteins; Modeling; Morphogenesis; N-terminal; Nuclear Pore; Opsin; Pathway interactions; Phenotype; Photoreceptors; Physiological; Process; Proteins; Rana; Recruitment Activity; Research; Research Personnel; Retinal Diseases; Role; Role playing therapy; Running; Site; Structure; Synapses; Tight Junctions; Vesicle; base; human RPGR protein; in vivo; photoreceptor degeneration; programs; protein function; research study; transcription factor

DESCRIPTION (provided by applicant): Hereditary photoreceptor degeneration is a group of blinding retinal diseases with diverse genetic origins. We propose to perform functional studies of several proteins known or postulated to have essential roles in photoreceptors. Emphasis is placed on the connecting cilium and the mammalian equivalent of a periciliary ridge complex, and their roles in membrane protein transport to the outer segment and disc morphogenesis. The proposed research will study RPGR, RPGRIP and Tubby-like proteins, hypothesized to function in the above processes. Our approaches are based on analyses of in vivo genetic models complemented by in vitro cell biological studies. The proposed efforts should contribute to our understanding of disease mechanisms underlying photoreceptor degeneration, and advance our knowledge concerning important and lesser understood aspects of photoreceptor cell biology.

描述（由申请人提供）：遗传性感光器变性是一组具有不同遗传起源的致盲性视网膜疾病。我们建议对已知或假定在光感受器中具有重要作用的几种蛋白质进行功能研究。重点放在连接纤毛和哺乳动物等效的纤毛周脊复合体上，以及它们在膜蛋白转运到外节和椎间盘形态发生中的作用。拟议的研究将研究 RPGR、RPGRIP 和 Tubby 样蛋白，假设它们在上述过程中发挥作用。我们的方法基于体内遗传模型的分析，并辅以体外细胞生物学研究。所提出的努力应有助于我们了解光感受器变性的疾病机制，并增进我们对光感受器细胞生物学的重要和鲜为人知的方面的了解。

项目成果

Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet.

• DOI: 10.1083/jcb.200207153
• 发表时间: 2002-11-11
• 期刊: JOURNAL OF CELL BIOLOGY
• 影响因子: 7.8
• 作者: Yang, Jun;Liu, Xiaoqing;Yue, Guohua;Adamian, Michael;Bulgakov, Oleg;Li, Tiansen
• 通讯作者: Li, Tiansen

Normal retinal development and retinofugal projections in mice lacking the retina-specific variant of actin-binding LIM domain protein.

缺乏肌动蛋白结合 LIM 结构域蛋白视网膜特异性变体的小鼠的正常视网膜发育和视网膜脱离投射。

• DOI: 10.1016/s0306-4522(03)00263-x
• 发表时间: 2003
• 期刊: Neuroscience
• 影响因子: 3.3
• 作者: Lu,C;Huang,X;Ma,HF;Gooley,JJ;Aparacio,J;Roof,DJ;Chen,C;Chen,DF;Li,T
• 通讯作者: Li,T

Mpp4 is required for proper localization of plasma membrane calcium ATPases and maintenance of calcium homeostasis at the rod photoreceptor synaptic terminals.

Mpp4 是质膜钙 ATP 酶正确定位和维持视杆光感受器突触末端钙稳态所必需的。

• DOI: 10.1093/hmg/ddm047
• 发表时间: 2007
• 期刊: Human molecular genetics
• 影响因子: 3.5
• 作者: Yang,Jun;Pawlyk,Basil;Wen,Xiao-Hong;Adamian,Michael;Soloviev,Maria;Michaud,Norman;Zhao,Yun;Sandberg,MichaelA;Makino,ClintL;Li,Tiansen
• 通讯作者: Li,Tiansen

Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.

• DOI: 10.1371/journal.pgen.1000955
• 发表时间: 2010-05-20
• 期刊: PLoS genetics
• 影响因子: 4.5
• 作者: Yang J;Liu X;Zhao Y;Adamian M;Pawlyk B;Sun X;McMillan DR;Liberman MC;Li T
• 通讯作者: Li T

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.

K296E 视蛋白对光转导的组成性激活并不是光感受器变性的原因。

• DOI: 10.1073/pnas.92.8.3551
• 发表时间: 1995
• 期刊: Proceedings of the National Academy of Sciences of the United States of America
• 影响因子: 11.1
• 作者: Li,T;Franson,WK;Gordon,JW;Berson,EL;Dryja,TP
• 通讯作者: Dryja,TP