Modulation of glutamate metabolism in Niemann-pick disease type C1 mice

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2026-03-01 Epub Date: 2026-03-05 DOI:10.1016/j.ymgmr.2026.101303

Antony Cougnoux, Carolina S. Alvarez, Andrea Gutierrez Maria, Emelin Hernandez, Niamh X. Cawley, Cristin D. Davidson, Forbes D. Porter

引用次数: 0

Abstract

Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease that results in progressive loss of Purkinje neurons. Previous work has implicated dysregulation of glutamate signaling as a potential pathogenic mechanism. In this study, we explore the efficacy of AMPA receptor inhibition and the role of SLC1A6, a Purkinje neuron glutamate transporter, in NPC1 cerebellar pathology.

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Niemann-pick病C1型小鼠谷氨酸代谢的调节

尼曼-匹克病，C1型（NPC1）是一种溶酶体疾病，导致浦肯野神经元的进行性丧失。先前的研究表明谷氨酸信号失调是潜在的致病机制。在本研究中，我们探讨了AMPA受体抑制的效果以及浦肯野神经元谷氨酸转运蛋白SLC1A6在NPC1小脑病理中的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.