Animal models of kabuki syndrome and their applicability to novel drug discovery DOI

M. Mertens,

Leen Khalife,

Xiaoting Ma

и другие.

Expert Opinion on Drug Discovery, Год журнала: 2025, Номер unknown

Опубликована: Янв. 25, 2025

Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It caused pathogenic variants in the KMT2D KDM6A genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting need advanced research therapeutic development. This review examines use of animal models KS research, including mice, fish, frogs, nematodes. These replicate key mechanistic clinical aspects Syndrome, facilitating preclinical studies to demonstrate efficacy. The literature search focused on identifying that utilized these investigate pathophysiology evaluate potential treatments. Refining essential enhance their relevance human accelerate development effective Syndrome. Insights from invaluable understanding underlying molecular mechanisms targets. Continued collaboration crucial translating findings into practice, offering hope future

Язык: Английский

Animal models of kabuki syndrome and their applicability to novel drug discovery DOI

M. Mertens,

Leen Khalife,

Xiaoting Ma

и другие.

Expert Opinion on Drug Discovery, Год журнала: 2025, Номер unknown

Опубликована: Янв. 25, 2025

Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It caused pathogenic variants in the KMT2D KDM6A genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting need advanced research therapeutic development. This review examines use of animal models KS research, including mice, fish, frogs, nematodes. These replicate key mechanistic clinical aspects Syndrome, facilitating preclinical studies to demonstrate efficacy. The literature search focused on identifying that utilized these investigate pathophysiology evaluate potential treatments. Refining essential enhance their relevance human accelerate development effective Syndrome. Insights from invaluable understanding underlying molecular mechanisms targets. Continued collaboration crucial translating findings into practice, offering hope future

Язык: Английский

Процитировано

0