The neuropsychiatry of Parkinson's disease: advances and challenges
D Weintraub, D Aarsland, KR Chaudhuri… - The Lancet …, 2022 - thelancet.com
In people with Parkinson's disease, neuropsychiatric signs and symptoms are common
throughout the disease course. These symptoms can be disabling and as clinically relevant …
throughout the disease course. These symptoms can be disabling and as clinically relevant …
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 …
[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 …
Genetic architecture of Parkinson's disease subtypes–Review of the literature
The heterogeneity of Parkinson's disease (PD) has been recognized since its description by
James Parkinson over 200 years ago. The complexity of motor and non-motor PD …
James Parkinson over 200 years ago. The complexity of motor and non-motor PD …
Glucocerebrosidase mutations and Parkinson disease
SRL Vieira, AHV Schapira - Journal of Neural Transmission, 2022 - Springer
The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …
[HTML][HTML] Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues
E Menozzi, M Toffoli, AHV Schapira - Pharmacology & therapeutics, 2023 - Elsevier
The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …
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 …
Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers
E Menozzi, AHV Schapira - Frontiers in Neurology, 2021 - frontiersin.org
Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for
Parkinson disease (PD). These include pathogenic variants causing Gaucher disease …
Parkinson disease (PD). These include pathogenic variants causing Gaucher disease …
Genotype-phenotype correlations in monogenic Parkinson disease: a review on clinical and molecular findings
Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial
etiology. It is characterized by prominent movement disorders and non-motor symptoms …
etiology. It is characterized by prominent movement disorders and non-motor symptoms …
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly
recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which …
recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which …