Xylose‐Configured Cyclophellitols as Selective Inhibitors for Glucocerebrosidase
Sign Up to like & getrecommendations! Published in 2021 at "Chembiochem"
DOI: 10.1002/cbic.202100396
Abstract: Glucocerebrosidase (GBA), a lysosomal retaining β‐d‐glucosidase, has recently been shown to hydrolyze β‐d‐xylosides and to transxylosylate cholesterol. Genetic defects in GBA cause the lysosomal storage disorder Gaucher disease (GD), and also constitute a risk factor… read more here.
Keywords: xylose configured; gba; cyclophellitols selective; selective inhibitors ... See more keywords
Can Leucine‐Rich Repeat Kinase 2 Inhibition Benefit GBA–Parkinson's Disease?
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28029
Abstract: Lysosomes are cellular organelles with multiple functions that are important in the maintenance of cellular homeostasis. Specifically, lysosomes are primarily catabolic stations that degrade both intracellular contents, including through autophagy, and extracellular contents trafficked through… read more here.
Keywords: sanyal colleagues; disease; repeat kinase; parkinson disease ... See more keywords
Reply to: “Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism”
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders"
DOI: 10.1002/mds.29351
Abstract: We read with great interest the recently published article by Ortega et al reporting sex-specific differences of glucocerebrosidase (GBA) gene mutation frequencies in carriers with Parkinson’s disease (GBA-PD) of Ashkenazi Jewish ancestry. They observed unequal… read more here.
Keywords: gba; frequency; sex specific; gba variants ... See more keywords
Effect of GBA gene variants on clinical characteristics of dementia with Lewy bodies: a review and meta-analyses
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-06031-w
Abstract: Glucocerebrosidase (GBA) gene may be a risk factor for dementia with Lewy bodies (DLB). However, due to the small number of existing studies and the small sample size of previous investigations, it is necessary to… read more here.
Keywords: gba gene; clinical characteristics; dementia lewy; meta analyses ... See more keywords
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations
Sign Up to like & getrecommendations! Published in 2019 at "Autophagy"
DOI: 10.1080/15548627.2018.1509818
Abstract: ABSTRACT Heterozygous mutations in GBA, the gene encoding the lysosomal enzyme glucosylceramidase beta/β-glucocerebrosidase, comprise the most common genetic risk factor for Parkinson disease (PD), but the mechanisms underlying this association remain unclear. Here, we show… read more here.
Keywords: gba mutations; heterozygous gba; disease; mitochondrial dysfunction ... See more keywords
GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz030
Abstract: Parkinson's disease (PD) is characterized by dopaminergic (DA) cell loss and the accumulation of pathological alpha synuclein (asyn), but its precise pathomechanism remains unclear, and no appropriate animal model has yet been established. Recent studies… read more here.
Keywords: disease; pathology; model; mice ... See more keywords
Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA‐related Parkinson's disease
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Neurology"
DOI: 10.1111/ene.13927
Abstract: Individuals with GBA (glucocerebrosidase) mutations are at increased risk of Parkinson's disease (PD). It is still debated, however, whether this increased risk results from impaired glucocerebrosidase activity leading to substrate accumulation. Comparing the presence of… read more here.
Keywords: risk; substrate accumulation; gba; parkinson disease ... See more keywords
Dual-Task Performance in GBA Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2017 at "Parkinson's Disease"
DOI: 10.1155/2017/8582740
Abstract: Introduction Parkinson's disease patients carrying a heterozygous mutation in the gene glucocerebrosidase (GBA-PD) show faster motor and cognitive decline than idiopathic Parkinson's disease (iPD) patients, but the mechanisms behind this observation are not well understood.… read more here.
Keywords: task; ipd patients; gba; parkinson disease ... See more keywords
The Association between E326K of GBA and the Risk of Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2018 at "Parkinson's Disease"
DOI: 10.1155/2018/1048084
Abstract: It is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G >… read more here.
Keywords: risk; analysis; disease; parkinson disease ... See more keywords
A steep coronal graft bending angle is associated with bone tunnel enlargement of the posterolateral bundle after anterior cruciate ligament reconstruction
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Orthopaedic Surgery"
DOI: 10.1177/2309499019888811
Abstract: Purpose: The correlation between the graft bending angle (GBA) of the anteromedial bundle and posterolateral bundle after anterior cruciate ligament reconstruction (ACLR) and postoperative tunnel enlargement was evaluated. Methods: Two hundred fifty-eight patients (137 males,… read more here.
Keywords: coronal gba; bending angle; graft bending; tunnel ... See more keywords
Influence of Graft Bending Angle on Graft Maturation, the Femoral Tunnel, and Functional Outcomes by 12 Months After Anterior Cruciate Ligament Reconstruction
Sign Up to like & getrecommendations! Published in 2019 at "Orthopaedic Journal of Sports Medicine"
DOI: 10.1177/2325967119882663
Abstract: Background: The graft bending angle (GBA), the angle between the femoral bone tunnel and the line connecting the femoral and tibial tunnel apertures, has been proven to influence stress within the graft and could be… read more here.
Keywords: graft; tunnel; functional outcomes; femoral tunnel ... See more keywords