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 …

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing

B Boland, WH Yu, O Corti, B Mollereau… - Nature reviews Drug …, 2018 - nature.com
Neurodegenerative disorders of ageing (NDAs) such as Alzheimer disease, Parkinson
disease, frontotemporal dementia, Huntington disease and amyotrophic lateral sclerosis …

The genetics of Parkinson disease

H Deng, P Wang, J Jankovic - Ageing research reviews, 2018 - Elsevier
About 15% of patients with Parkinson disease (PD) have family history and 5–10% have a
monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 …

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 …

[HTML][HTML] The NAD+ precursor nicotinamide riboside rescues mitochondrial defects and neuronal loss in iPSC and fly models of Parkinson's disease

DC Schöndorf, D Ivanyuk, P Baden… - Cell reports, 2018 - cell.com
While mitochondrial dysfunction is emerging as key in Parkinson's disease (PD), a central
question remains whether mitochondria are actual disease drivers and whether boosting …

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 …

[HTML][HTML] Targeting autophagy using small-molecule compounds to improve potential therapy of Parkinson's disease

K Zhang, S Zhu, J Li, T Jiang, L Feng, J Pei… - … Pharmaceutica Sinica B, 2021 - Elsevier
Abstract Parkinson's disease (PD), known as one of the most universal neurodegenerative
diseases, is a serious threat to the health of the elderly. The current treatment has been …

Current approaches to the treatment of Parkinson's Disease

JM Ellis, MJ Fell - Bioorganic & medicinal chemistry letters, 2017 - Elsevier
Parkinson's Disease (PD) is the second most common neurodegenerative disorder. Clinical
approaches to manage PD include symptomatic therapies, serving to compensate for the …

The endoplasmic reticulum unfolded protein response in neurodegenerative disorders and its potential therapeutic significance

P Remondelli, M Renna - Frontiers in molecular neuroscience, 2017 - frontiersin.org
In eukaryotic cells, the endoplasmic reticulum (ER) is the cell compartment involved in
secretory protein translocation and quality control of secretory protein folding. Different …