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Article

Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.

Human molecular genetics - 15 Dec 2015

Dasgupta Nupur, Xu You-Hai, Li Ronghua, Peng Yanyan, Pandey Manoj K, Tinch Stuart L, Liou Benjamin, Inskeep Venette, Zhang Wujuan, Setchell Kenneth D R, Keddache Mehdi, Grabowski Gregory A, Sun Ying

Abstract excerpt

Defective lysosomal acid β-glucosidase (GCase) in Gaucher disease causes accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) that distress cellular functions. To study novel pathological mechanisms in neuronopathic Gaucher disease (nGD), a mouse model (4L;C*), an analogue to subacute human nGD, was investigated for global profiles of differentially expressed brain mRNAs (DEGs) and miRNAs (DEmiRs)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26420838
DOI: 10.1093/hmg/ddv404
PMCID: PMC4654057

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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