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 …
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
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 …
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
Summary Parkinson's disease (PD), an adult neurodegenerative disorder, has been
clinically linked to the lysosomal storage disorder Gaucher disease (GD), but the …
clinically linked to the lysosomal storage disorder Gaucher disease (GD), but the …
The lysosome as a regulatory hub
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 …
discoveries have challenged this simple view and have established a central role of the …
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 …
is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …
Autophagy induction as a therapeutic strategy for neurodegenerative diseases
Autophagy is a major, conserved cellular pathway by which cells deliver cytoplasmic
contents to lysosomes for degradation. Genetic studies have revealed extensive links …
contents to lysosomes for degradation. Genetic studies have revealed extensive links …
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches
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 …
disease was described more than 200 years ago, its pathogenetic mechanisms have not yet …
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis
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 …
storage disorder Gaucher's disease (GD), are the strongest genetic risk factor 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 …
the most frequent known genetic risk factor for Parkinson's disease. Reduced …
Therapeutics in the pipeline targeting α-synuclein for Parkinson's disease
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 …
fastest growing neurologic disease in the world, yet no disease-modifying therapy is …