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 …

A review of Gaucher disease pathophysiology, clinical presentation and treatments

J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches

GM Riboldi, AB Di Fonzo - Cells, 2019 - mdpi.com
Parkinson's disease (PD) is the second most common degenerative disorder. Although the
disease was described more than 200 years ago, its pathogenetic mechanisms have not yet …

Autophagy induction as a therapeutic strategy for neurodegenerative diseases

A Djajadikerta, S Keshri, M Pavel, R Prestil… - Journal of molecular …, 2020 - Elsevier
Autophagy is a major, conserved cellular pathway by which cells deliver cytoplasmic
contents to lysosomes for degradation. Genetic studies have revealed extensive links …

The lysosome as a regulatory hub

RM Perera, R Zoncu - Annual review of cell and developmental …, 2016 - annualreviews.org
The lysosome has long been viewed as the recycling center of the cell. However, recent
discoveries have challenged this simple view and have established a central role of the …

iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis

DC Schöndorf, M Aureli, FE McAllister… - Nature …, 2014 - nature.com
Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lysosomal
storage disorder Gaucher's disease (GD), are the strongest genetic risk factor for Parkinson's …

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

JR Mazzulli, YH Xu, Y Sun, AL Knight, PJ McLean… - Cell, 2011 - cell.com
Summary Parkinson's disease (PD), an adult neurodegenerative disorder, has been
clinically linked to the lysosomal storage disorder Gaucher disease (GD), but the …

Therapeutics in the pipeline targeting α-synuclein for Parkinson's disease

HG Jasutkar, SE Oh, MM Mouradian, E Barker - Pharmacological reviews, 2022 - Elsevier
Parkinson's disease (PD) is the second most common neurodegenerative disorder and the
fastest growing neurologic disease in the world, yet no disease-modifying therapy is …

The link between the GBA gene and parkinsonism

E Sidransky, G Lopez - The Lancet Neurology, 2012 - thelancet.com
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that
is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease

KE Murphy, AM Gysbers, SK Abbott, N Tayebi, WS Kim… - Brain, 2014 - academic.oup.com
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are
the most frequent known genetic risk factor for Parkinson's disease. Reduced …