Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.

doi:10.1016/j.parkreldis.2024.107023

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Article

Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.

Parkinsonism & related disorders - 1 Jul 2024

Marano Massimo, Zizzo Carmela, Malaguti Maria Chiara, Bacchin Ruggero, Cavallieri Francesco, De Micco Rosa, Spagnolo Francesca, Bentivoglio Anna Rita, Schirinzi Tommaso, Bovenzi Roberta, Ramat Silvia, Erro Roberto, Sorrentino Cristiano, Sucapane Patrizia, Pilotto Andrea, Lupini Alessandro, Magliozzi Alessandro, Di Vico Ilaria, Carecchio Miryam, Bonato Giulia, Cilia Roberto, Colucci Fabiana, Tamma Filippo, Caputo Elena, Mostile Giovanni, Arabia Gennarina, Modugno Nicola, Zibetti Maurizio, Ceravolo Maria Gabriella, Tambasco Nicola, Cossu Giovanni, Valzania Franco, Manganotti Paolo, Di Lazzaro Vincenzo, Zappia Mario, Fabbrini Giovanni, Tinazzi Michele, Tessitore Alessandro, Duro Giovanni, Di Fonzo Alessio

Abstract excerpt

INTRODUCTION: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link...

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PMID: 38843618
DOI: 10.1016/j.parkreldis.2024.107023

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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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