Turnitin
降AI改写
早检测系统
早降重系统
Turnitin-UK版
万方检测-期刊版
维普编辑部版
Grammarly检测
Paperpass检测
checkpass检测
PaperYY检测
Lysosomal storage disorders–challenges, concepts and avenues for therapy: beyond rare diseases
The pivotal role of lysosomes in cellular processes is increasingly appreciated. An
understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal …
understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal …
Recent advances in the diagnosis and management of Gaucher disease
SE Gary, E Ryan, AM Steward… - Expert review of …, 2018 - Taylor & Francis
Introduction: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme
glucocerebrosidase, is associated with wide phenotypic diversity including non …
glucocerebrosidase, is associated with wide phenotypic diversity including non …
Is Parkinson's disease a lysosomal disorder?
AD Klein, JR Mazzulli - 2018 - academic.oup.com
Common forms of Parkinson's disease have long been described as idiopathic, with no
single penetrant genetic factor capable of influencing disease aetiology. Recent genetic …
single penetrant genetic factor capable of influencing disease aetiology. Recent genetic …
The lysosomal β-glucocerebrosidase strikes mitochondria: Implications for Parkinson's therapeutics
Parkinson's disease is a neurodegenerative disorder primarily known for typical motor
features that arise due to the loss of dopaminergic neurons in the substantia nigra. However …
features that arise due to the loss of dopaminergic neurons in the substantia nigra. However …
Gaucher disease: Progress and ongoing challenges
Over the past decades, tremendous progress has been made in the field of Gaucher
disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the …
disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the …
Gaucher disease provides a unique window into Parkinson disease pathogenesis
E Hertz, Y Chen, E Sidransky - Nature Reviews Neurology, 2024 - nature.com
An exciting development in the field of neurodegeneration is the association between the
rare monogenic disorder Gaucher disease and the common complex disorder Parkinson …
rare monogenic disorder Gaucher disease and the common complex disorder Parkinson …
Use of acidic nanoparticles to rescue macrophage lysosomal dysfunction in atherosclerosis
Dysfunction in the macrophage lysosomal system including reduced acidity and diminished
degradative capacity is a hallmark of atherosclerosis, leading to blunted clearance of excess …
degradative capacity is a hallmark of atherosclerosis, leading to blunted clearance of excess …
A Fixable Fluorescence‐Quenched Substrate for Quantitation of Lysosomal Glucocerebrosidase Activity in Both Live and Fixed Cells
Fluorogenic substrates are emerging tools that enable studying enzymatic processes within
their native cellular environments. However, fluorogenic substrates that function within live …
their native cellular environments. However, fluorogenic substrates that function within live …
High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson's disease
D Williams, LM Glasstetter, TT Jong, T Chen… - Proceedings of the …, 2024 - pnas.org
Glucocerebrosidase (GCase) is implicated in both a rare, monogenic disorder (Gaucher
disease, GD) and a common, multifactorial condition (Parkinson's disease, PD); hence, it is …
disease, GD) and a common, multifactorial condition (Parkinson's disease, PD); hence, it is …
Exploring genetic modifiers of Gaucher disease: The next horizon
BA Davidson, S Hassan, EJ Garcia, N Tayebi… - Human …, 2018 - Wiley Online Library
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from
mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase …
mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase …