Lysosomal storage diseases

FM Platt, A d'Azzo, BL Davidson, EF Neufeld… - Nature reviews Disease …, 2018 - nature.com
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

Periphery and brain, innate and adaptive immunity in Parkinson's disease

AS Harms, SA Ferreira, M Romero-Ramos - Acta neuropathologica, 2021 - Springer
Parkinson's disease (PD) is a neurodegenerative disorder where alpha-synuclein plays a
central role in the death and dysfunction of neurons, both, in central, as well as in the …

GBA Variants and Parkinson Disease: Mechanisms and Treatments

L Smith, AHV Schapira - Cells, 2022 - mdpi.com
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …

Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy

SH Kuo, I Tasset, MM Cheng, A Diaz, MK Pan… - Science …, 2022 - science.org
The most common genetic risk factors for Parkinson's disease (PD) are a set of
heterozygous mutant (MT) alleles of the GBA1 gene that encodes β-glucocerebrosidase …

A review of Gaucher disease pathophysiology, clinical presentation and treatments

J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

Targeting RIPK1 for the treatment of human diseases

A Degterev, D Ofengeim… - Proceedings of the …, 2019 - National Acad Sciences
RIPK1 kinase has emerged as a promising therapeutic target for the treatment of a wide
range of human neurodegenerative, autoimmune, and inflammatory diseases. This was …

Recent advances in activity-based probes (ABPs) and affinity-based probes (A f BPs) for profiling of enzymes

H Fang, B Peng, SY Ong, Q Wu, L Li, SQ Yao - Chemical Science, 2021 - pubs.rsc.org
Activity-based protein profiling (ABPP) is a technique that uses highly selective active-site
targeted chemical probes to label and monitor the state of proteins. ABPP integrates the …

α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models

JR Mazzulli, F Zunke, O Isacson… - Proceedings of the …, 2016 - National Acad Sciences
Parkinson's disease (PD) is an age-related neurodegenerative disorder characterized by the
accumulation of protein aggregates comprised of α-synuclein (α-syn). A major barrier in …

Dysregulated lipid metabolism and its role in α-synucleinopathy in Parkinson's disease

I Alecu, SAL Bennett - Frontiers in neuroscience, 2019 - frontiersin.org
Parkinson's disease (PD) is the second most common neurodegenerative disease, the main
pathological hallmark of which is the accumulation of α-synuclein (α-syn) and the formation …

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations

RN Alcalay, OA Levy, CH Waters, S Fahn, B Ford… - Brain, 2015 - academic.oup.com
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in
numerous studies. However, it is unknown whether the increased risk of Parkinson's disease …