Lysosomal storage disorders–challenges, concepts and avenues for therapy: beyond rare diseases

ARA Marques, P Saftig - Journal of cell science, 2019 - journals.biologists.com
The pivotal role of lysosomes in cellular processes is increasingly appreciated. An
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 …

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 …

The lysosomal β-glucocerebrosidase strikes mitochondria: Implications for Parkinson's therapeutics

JC Rubilar, TF Outeiro, AD Klein - Brain, 2024 - academic.oup.com
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 …

Gaucher disease: Progress and ongoing challenges

PK Mistry, G Lopez, R Schiffmann, NW Barton… - Molecular genetics and …, 2017 - Elsevier
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 …

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 …

Use of acidic nanoparticles to rescue macrophage lysosomal dysfunction in atherosclerosis

X Zhang, SK Misra, P Moitra, X Zhang, SJ Jeong… - Autophagy, 2023 - Taylor & Francis
Dysfunction in the macrophage lysosomal system including reduced acidity and diminished
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

S Zhu, MC Deen, Y Zhu, PA Gilormini… - Angewandte …, 2023 - Wiley Online Library
Fluorogenic substrates are emerging tools that enable studying enzymatic processes within
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 …

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 …