Results 71 to 80 of about 9,202 (225)
Autophagic- and Lysosomal-Related Biomarkers for Parkinson’s Disease: Lights and Shadows
Cells, 2019 Parkinson’s disease (PD) is a neurodegenerative disorder that currently affects 1% of the population over the age of 60 years, for which no disease-modifying treatments exist.
Helena Xicoy +3 more
doaj +1 more source
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Biomedicines, 2022 We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene.
Valerio Napolioni +13 more
doaj +1 more source
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis
Movement Disorders, EarlyView.Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba +30 more
wiley +1 more source
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells
, 2015 Gaucher disease is an autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase. Although it is a monogenic disease, there is vast phenotypic heterogeneity, even among patients with the same genotype. MicroRNAs (miRNAs) are small
Scott E Martin (686524) +8 more
core +1 more source
Gaucher disease and the synucleinopathies: refining the relationship
Orphanet Journal of Rare Diseases, 2012 Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich +21 more
wiley +1 more source
Glucocerebrosidase as a therapeutic target for Parkinson’s disease
Expert Opinion on Therapeutic Targets, 2020 Introduction: The association between Gaucher disease, caused by the inherited deficiency of glucocerebrosidase, and Parkinson's disease was first recognized in the clinic, noting that patients with Gaucher disease and their carrier relatives had an increased incidence of Parkinson's disease.
Yu, Chen +5 more
openaire +3 more sources
Phytotherapy Research, EarlyView.Overview of the therapeutic potential of flavonoids in nasal delivery systems, highlighting their benefits to the human nasal cavity, and applications in the treatment of respiratory and brain‐related diseases. ABSTRACT Flavonoids represent a significant group of secondary metabolites.
Jeniffer Viviana Ramirez Hernández +5 more
wiley +1 more source
Glucocerebrosidase and Parkinson disease: Recent advances [PDF]
Molecular and Cellular Neuroscience, 2015 Mutations of the glucocerebrosidase (GBA) gene are the most important risk factor yet discovered for Parkinson disease (PD). Homozygous GBA mutations result in Gaucher disease (GD), a lysosomal storage disorder. Heterozygous mutations have not until recently been thought to be associated with any pathological process.
openaire +2 more sources
Frontiers in Cellular Neuroscience, 2018 Intensive research efforts in the field of Parkinson’s disease (PD) are focusing on identifying reliable biomarkers which possibly help physicians in predicting disease onset, diagnosis, and progression as well as evaluating the response to disease ...
Silvia Cerri +9 more
doaj +1 more source