GBA Variants and Parkinson Disease: Mechanisms and Treatments
L Smith, AHV Schapira - Cells, 2022 - mdpi.com
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …
Functional roles of sphingolipids in immunity and their implication in disease
M Lee, SY Lee, YS Bae - Experimental & molecular medicine, 2023 - nature.com
Sphingolipids, which are components of cellular membranes and organ tissues, can be
synthesized or degraded to modulate cellular responses according to environmental cues …
synthesized or degraded to modulate cellular responses according to environmental cues …
[HTML][HTML] Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments
ME Gegg, E Menozzi, AHV Schapira - Neurobiology of Disease, 2022 - Elsevier
Dysfunction of the endolysosomal system is implicated in the pathogenesis of both sporadic
and familial Parkinson disease (PD). Variants in genes encoding lysosomal proteins have …
and familial Parkinson disease (PD). Variants in genes encoding lysosomal proteins have …
Lipids shape brain function through ion channel and receptor modulations: physiological mechanisms and clinical perspectives
S Incontro, ML Musella, M Sammari… - Physiological …, 2025 - journals.physiology.org
Lipids represent the most abundant molecular type in the brain, with a fat content of∼ 60%
of the dry brain weight in humans. Despite this fact, little attention has been paid to …
of the dry brain weight in humans. Despite this fact, little attention has been paid to …
GBA-associated PD: chances and obstacles for targeted treatment strategies
Given the clear role of GBA in the pathogenesis of Parkinson's disease (PD) and its impact
on phenotypical characteristics, this review provides an overview of the current knowledge …
on phenotypical characteristics, this review provides an overview of the current knowledge …
Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo
RE Lackie, AS de Miranda, MP Lim, V Novikov… - Acta …, 2022 - Springer
The predominantly pre-synaptic intrinsically disordered protein α-synuclein is prone to
misfolding and aggregation in synucleinopathies, such as Parkinson's disease (PD) and …
misfolding and aggregation in synucleinopathies, such as Parkinson's disease (PD) and …
Parkinson-causing mutations in LRRK2 impair the physiological tetramerization of endogenous α-synuclein in human neurons
L Fonseca-Ornelas, JMS Stricker… - npj Parkinson's …, 2022 - nature.com
Abstract α-Synuclein (αSyn) aggregation in Lewy bodies and neurites defines both familial
and 'sporadic'Parkinson's disease. We previously identified α-helically folded αSyn …
and 'sporadic'Parkinson's disease. We previously identified α-helically folded αSyn …
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines
LJ Smith, MM Bolsinger, KY Chau… - Human Molecular …, 2023 - academic.oup.com
Sequence variants or mutations in the GBA gene are numerically the most important risk
factor for Parkinson disease (PD). The GBA gene encodes for the lysosomal hydrolase …
factor for Parkinson disease (PD). The GBA gene encodes for the lysosomal hydrolase …
Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson's disease
F Mubariz, A Saadin, N Lingenfelter, C Sarkar… - Frontiers in …, 2023 - frontiersin.org
Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson's
disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the …
disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the …
[HTML][HTML] Reducing the lipase LIPE in mutant α-synuclein mice improves Parkinson-like deficits and reveals sex differences in fatty acid metabolism
MA Adom, WN Hahn, TD McCaffery, TE Moors… - Neurobiology of …, 2024 - Elsevier
Impaired lipid metabolism is a risk factor for Parkinson's disease (PD) and dementia with
Lewy bodies (DLB) and can shift the physiological α-synuclein (αS) tetramer-monomer (T …
Lewy bodies (DLB) and can shift the physiological α-synuclein (αS) tetramer-monomer (T …