Results 91 to 100 of about 4,309 (206)
Movement Disorders, EarlyView.Abstract Background Recent advances in proteomic profiling have enabled its use as a powerful approach in elucidating molecular mechanisms underlying Parkinson's disease, enabling the identification of disease‐associated protein alterations and candidate biomarkers for diagnosis, progression, and therapeutic response.
Victoria J. Dardov +21 more
wiley +1 more source
Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease
Translational NeurodegenerationParkinson’s disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk.
Xuxiang Zhang +3 more
doaj +1 more source
Neurobiology of Disease, 2015 Heterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for sporadic Parkinson's disease (PD).
Giulia Ambrosi +5 more
doaj +1 more source
Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues [PDF]
, 2023 The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder characterised by loss of GCase activity and aberrant ...
Menozzi, E, Schapira, AHV, Toffoli, M
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Movement Disorders, EarlyView.Abstract Background The cerebrospinal fluid alpha‐synuclein seed amplification assay (CSFasynSAA) detects alpha‐synuclein aggregation in over 90% of individuals with sporadic PD (sPD). However, the clinical characteristics of sPD with negative CSFasynSAA remain undefined.
Sarah M. Brooker +30 more
wiley +1 more source
Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers
Movement Disorders, EarlyView.Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes +7 more
wiley +1 more source
Frontiers in Neuroscience, 2020 A growing number of genes associated with Parkinson’s disease are implicated in the regulation of lysosome function, including LRRK2, whose missense mutations are perhaps the most common monogenic cause of this neurodegenerative disease.
Anwesha Sanyal +4 more
doaj +1 more source
Memoria Académica 2014-2015 [PDF]
, 2015 El CABD es un centro mixto de investigación. Actualmente, el centro lo ocupan 19 grupos trabajando en desarrollo de ratón, pez cebra, Xenopus, Drosophila y Caenorhabditis, así como estudiando control del ciclo celular en levaduras, regulación génica en
CSIC-JA-UPO - Centro Andaluz de Biología del Desarrollo (CABD)
core +1 more source
Movement Disorders, EarlyView.Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik +5 more
wiley +1 more source
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study [PDF]
, 2023 Background: Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the expression of the PD phenotype.
Bestwick, J +24 more
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