Delving into the Latest Updates on CERES BRAIN Therapeutics SAS with Synapse

概览

疾病领域	数量

神经系统疾病	3
内分泌与代谢疾病	1
肿瘤	1

排名前五的药物类型	数量

小分子化药	3

关联

3

项与 CERES BRAIN Therapeutics SAS 相关的药物

CBT-301

靶点-

作用机制-

在研机构

CERES BRAIN Therapeutics SAS

原研机构

CERES BRAIN Therapeutics SAS

在研适应症

脑癌

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期-

Dodecyl Creatine Ester

靶点-

作用机制-

在研机构

Commissariat à l´énergie atomique et aux énergies Alternatives [+1]

原研机构

CERES BRAIN Therapeutics SAS

在研适应症

肌萎缩侧索硬化 [+1]

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期-

CBT-201

靶点-

作用机制-

在研机构

CERES BRAIN Therapeutics SAS

原研机构

CERES BRAIN Therapeutics SAS

在研适应症

神经系统变性病

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期-

100 项与 CERES BRAIN Therapeutics SAS 相关的临床结果

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0 项与 CERES BRAIN Therapeutics SAS 相关的专利（医药）

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2

项与 CERES BRAIN Therapeutics SAS 相关的文献（医药）

eLife

Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency

作者: Sarkadi, Balazs ; Skelton, Matthew R ; Mozner, Orsolya ; Armengaud, Jean ; Disdier, Clémence ; Broca-Brisson, Léa ; Gaston-Breton, Romane ; Harati, Rania ; Apati, Agota ; Costa, Narciso ; Mabondzo, Aloïse ; Maïza, Auriane ; Madrange, Lucie ; Yates, Frank ; Guyot, Anne-Cécile ; Hamoudi, Rifat

Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures. In this work, we generated human brain organoids from induced pluripotent stem cells of healthy subjects and CTD patients. Brain organoids from CTD donors had reduced creatine uptake compared with those from healthy donors. The expression of neural progenitor cell markers SOX2 and PAX6 was reduced in CTD-derived organoids, while GSK3β, a key regulator of neurogenesis, was up-regulated. Shotgun proteomics combined with integrative bioinformatic and statistical analysis identified changes in the abundance of proteins associated with intellectual disability, epilepsy, and autism. Re-establishment of the expression of a functional SLC6A8 in CTD-derived organoids restored creatine uptake and normalized the expression of SOX2, GSK3β, and other key proteins associated with clinical features of CTD patients. Our brain organoid model opens new avenues for further characterizing the CTD pathophysiology and supports the concept that reinstating creatine levels in patients with CTD could result in therapeutic efficacy.

Deciphering Neuronal Deficit and Protein Profile Changes in Human Brain Organoids from Patients with Creatine Transporter Deficiency

作者: Sarkadi, Balazs ; Skelton, Matthew R ; Mozner, Orsolya ; Disdier, Clémence ; Broca-Brisson, Léa ; Gaston-Breton, Romane ; Harati, Rania ; Apati, Agota ; Costa, Narciso ; Mabondzo, Aloïse ; Maïza, Auriane ; Madrange, Lucie ; Hamoudi, Rifat A. ; Armengaud, Jean ; Yates, Frank ; Guyot, Anne-Cécile

Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures. In this work, we generated human brain organoids from induced pluripotent stem cells of healthy subjects and CTD patients. Brain organoids from CTD donors had reduced creatine uptake compared with those from healthy donors. The expression of neural progenitor cell markers SOX2 and PAX6 was reduced in CTD derived organoids, while GSK3β, a key regulator of neurogenesis, was up-regulated. Shotgun proteomics combined with integrative bioinformatic and statistical analysis identified changes in abundance of proteins associated with intellectual disability, epilepsy, and autism. Re-establishment of the expression a functional SLC6A8 in CTD-derived organoids restored creatine uptake and normalized the expression of SOX2, GSK3β and other key proteins associated with clinical features of CTD patients. Our brain organoid model opens new avenues for further characterizing the CTD pathophysiology and supports the concept that reinstating creatine levels in patients with CTD could result in therapeutic efficacy.

100 项与 CERES BRAIN Therapeutics SAS 相关的药物交易

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100 项与 CERES BRAIN Therapeutics SAS 相关的转化医学

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