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

Molecular Genetics and Metabolism Reports 2026 Open access

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Authors: Antony Cougnoux, Carolina S. Alvarez, Andréa Gutierrez Maria, Emelin Hernandez, Niamh X. Cawley, Cristin D. Davidson, Forbes D. Porter
DOI: 10.1016/j.ymgmr.2026.101303
Cited by: 1
References: 16

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.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Calcium signaling and nucleotide metabolism

Publication details

Journal / source
Molecular Genetics and Metabolism Reports
Publisher
Elsevier BV
Volume
46
Pages
101303–101303
Publication date
1 March 2026
Language
EN