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Lafora Epilepsy – Basic mechanisms to therapy

拉福拉癫痫 — 治疗的基本机制

基本信息

批准号：
10436430
负责人：
Tianyan Gao
金额：
$ 15.37万
依托单位：
UNIVERSITY OF KENTUCKY
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-07-01 至 2023-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10436430
关键词：
Administrative Supplement Animal Disease Models Animals Antisense Oligonucleotides Biological Biological Assay Biological Models Brain Budgets Cell Line Chemistry Clinical Research Clinical Trials Coupled Cytoplasm Data Defect Dendrites Development Diagnosis Diagnostic Disease Disease model Dreams Enzymes Epilepsy Funding Genes Genetic Glycogen Grant Intractable Epilepsy Laboratories Lafora Disease Modeling Molecular Molecular Target Mutation Pathway interactions Patients Pharmaceutical Chemistry Pharmacology Positioning Attribute RNA Reagent Refractory Resources Starch Structural Biochemistry Techniques Technology Testing Therapeutic Time U-Series Cooperative Agreements United States National Institutes of Health Work base behavior test induced pluripotent stem cell innovation member mouse model novel personalized diagnostics preservation response small molecule small molecule inhibitor therapeutic evaluation

项目摘要

This is an Administrative Supplement request in response to PA-20-272, “Administrative Supplements to Existing NIH Grants and Cooperative Agreements” for P01NS097197 entitled “Lafora Epilepsy – Basic mechanisms to therapy”. The requested funds are to maintain and cryo-preserve Lafora disease animal models and novel cell lines as well as maintain key resources. Per the budget justification, these funds will be utilized by the Roach laboratory (Project 3), the Guinovart laboratory (Project 4), the Sanz laboratory (Project 4), and the Serratosa laboratory (Biological Core). The Gentry laboratory (Project 1) and the Minassian laboratory (Project 2) have carryforward funds that they will utilize to preserve and maintain key resources. The Medicinal Chemistry Core generated a number of small molecules that are still being tested and no funds are being requested for additional compounds. Therefore, the Medicinal Chemistry Core is being sunset. The Biological Core originally was comprised of a branch at UCSD that generated animal and cell line LD models and one in Madrid that has been and is performing behavioral tests and cell line analyses. Since no new animal or cell line models are needed at this time, the UCSD branch is being sunset. In summary, the requested funds will be utilized to maintain novel and key reagents that have been generated and are critical to developing a therapy or cure for Lafora disease.

这是对PA-20-272“行政补充， P01 NS 097197的现有NIH赠款和合作协议，标题为“Lafora癫痫-基础” 治疗机制”。申请的资金用于维持和冷冻保存拉福拉病动物模型和新的细胞系，以及保持关键资源。根据预算理由，这些资金将 Roach实验室（项目3）、Guinovart实验室（项目4）、Sanz实验室（项目4） 4），和Serratosa实验室（生物核心）。Gentry实验室（项目1）和Minassian 实验室（项目2）有结转资金，他们将利用这些资金保存和维护关键资源。的药物化学核心产生了一些小分子，仍在测试中，没有资金正在申请更多的化合物因此，药物化学核心正在走向没落。的生物核心最初是由一个分支在加州大学圣地亚哥分校，产生动物和细胞系LD模型还有一个在马德里，一直在进行行为测试和细胞系分析。由于没有新的动物或细胞系模型是需要在这个时候，UCSD的分支正在夕阳西下。总而言之，申请的资金将用于维持已经产生的、对以下方面至关重要的新型和关键试剂开发Lafora病的疗法或治愈方法。

项目成果

期刊论文数量（125）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Unique carbohydrate binding platforms employed by the glucan phosphatases.

DOI：
10.1007/s00018-016-2249-3
发表时间：
2016-07
期刊：
Cellular and molecular life sciences : CMLS
影响因子：
0
作者：
Emanuelle S;Brewer MK;Meekins DA;Gentry MS
通讯作者：
Gentry MS

Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model.

Lafora病小鼠模型中谷氨酸能和神经炎症途径的药理调节。

DOI：
10.1007/s12035-022-02956-7
发表时间：
2022-10
期刊：
MOLECULAR NEUROBIOLOGY
影响因子：
5.1
作者：
Molla, Belen;Heredia, Miguel;Campos, Angela;Sanz, Pascual
通讯作者：
Sanz, Pascual

251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.

DOI：
10.1016/j.nmd.2021.01.010
发表时间：
2021-05
期刊：
Neuromuscular disorders : NMD
影响因子：
0
作者：
Laforêt P;Oldfors A;Malfatti E;Vissing J;ENMC 251st workshop study group
通讯作者：
ENMC 251st workshop study group

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

DOI：
10.1002/acn3.51211
发表时间：
2020-11
期刊：
Annals of clinical and translational neurology
影响因子：
5.3
作者：
Chown EE;Wang P;Zhao X;Crowder JJ;Strober JW;Sullivan MA;Xue Y;Bennett CS;Perri AM;Evers BM;Roach PJ;Depaoli-Roach AA;Akman HO;Pederson BA;Minassian BA
通讯作者：
Minassian BA

A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

EPM2A 中的一种新的缺失突变是一个巴基斯坦家庭中进行性肌阵挛性癫痫（拉福拉体病）的基础。

DOI：
发表时间：
2021
期刊：
Neurology Asia
影响因子：
0.2
作者：
Orooj,Fizza;Umm-E-Kalsoom;Zhao,XiaoChu;Ahmad,Arsalan;Ahmed,ImranNazir;Faheem,Muhammad;Hassan,MuhammadJawad;Minasian,BergeA
通讯作者：
Minasian,BergeA