Article

Neuronopathic GBA1 L444P mutation accelerates Glucosylsphingosine levels and formation of hippocampal alpha-synuclein inclusions

2022-04-08

Abstract excerpt

<h4>ABSTRACT</h4> The most common genetic risk factor for Parkinson’s disease (PD) is heterozygous mutations in the GBA1 gene which encodes for the lysosomal enzyme, glucocerebrosidase (GCase). GCase impairments are associated with an accumulation of abnormal α-synuclein (α-syn) called Lewy pathology, which characterizes PD. PD patients heterozygous for the GBA1 L444P mutation (GBA1 +/L444P ) have a 5.6-fold inc...

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Literature Corpus work: 3ae17791-defd-50e3-b6a7-44adf5da4de7
DOI: 10.1101/2022.04.07.487391

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