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  • Article
  • Open Access
25 Citations
7,274 Views
14 Pages

The Role of Exosomes in Lysosomal Storage Disorders

  • Adenrele M. Gleason,
  • Elizabeth G. Woo,
  • Cindy McKinney and
  • Ellen Sidransky

15 April 2021

Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell. Exosomal cargo, including lipids, proteins, mRNAs, and miRN...

  • Review
  • Open Access
48 Citations
7,848 Views
21 Pages

Insight into the Role of Extracellular Vesicles in Lysosomal Storage Disorders

  • Brunella Tancini,
  • Sandra Buratta,
  • Krizia Sagini,
  • Eva Costanzi,
  • Federica Delo,
  • Lorena Urbanelli and
  • Carla Emiliani

6 July 2019

Extracellular vesicles (EVs) have received increasing attention over the last two decades. Initially, they were considered as just a garbage disposal tool; however, it has progressively become clear that their protein, nucleic acid (namely miRNA and...

  • Review
  • Open Access
52 Citations
9,076 Views
10 Pages

Mitochondrial Dysfunction in Lysosomal Storage Disorders

  • Mario De la Mata,
  • David Cotán,
  • Marina Villanueva-Paz,
  • Isabel De Lavera,
  • Mónica Álvarez-Córdoba,
  • Raquel Luzón-Hidalgo,
  • Juan M. Suárez-Rivero,
  • Gustavo Tiscornia and
  • Manuel Oropesa-Ávila

11 October 2016

Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested m...

  • Review
  • Open Access
2 Citations
4,958 Views
17 Pages

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

  • Bruno Hay Mele,
  • Federica Rossetti,
  • Maria Vittoria Cubellis,
  • Maria Monticelli and
  • Giuseppina Andreotti

25 February 2024

Rare diseases, or orphan diseases, are defined as diseases affecting a small number of people compared to the general population. Among these, we find lysosomal storage disorders (LSDs), a cluster of rare metabolic diseases characterized by enzyme mu...

  • Review
  • Open Access
19 Citations
10,048 Views
14 Pages

Lysosomal storage disorders (LSDs) are characterized by an accumulation of various substances, such as sphingolipids, mucopolysaccharides, and oligosaccharides. The LSD enzymes responsible for the catabolism are active at acidic pH in the lysosomal c...

  • Editorial
  • Open Access
11 Citations
3,685 Views
3 Pages

30 June 2021

Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to...

  • Review
  • Open Access
18 Citations
7,470 Views
32 Pages

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery

  • Laura Rigon,
  • Concetta De Filippis,
  • Barbara Napoli,
  • Rosella Tomanin and
  • Genny Orso

Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters. This leads to the accumulation of undegraded materials...

  • Review
  • Open Access
25 Citations
7,739 Views
11 Pages

Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screen...

  • Article
  • Open Access
8 Citations
3,553 Views
16 Pages

Role of the Lactide:Glycolide Ratio in PLGA Nanoparticle Stability and Release under Lysosomal Conditions for Enzyme Replacement Therapy of Lysosomal Storage Disorders

  • Maria del Moral,
  • Maximilian Loeck,
  • Eameema Muntimadugu,
  • Guillem Vives,
  • Vy Pham,
  • Peter Pfeifer,
  • Giuseppe Battaglia and
  • Silvia Muro

Prior studies demonstrated that encapsulation in poly(lactic-co-glycolic acid) (PLGA) nanoparticles (NPs) enhanced the delivery of enzymes used for replacement therapy (ERT) of lysosomal storage disorders (LSDs). This study examined how the copolymer...

  • Review
  • Open Access
1,830 Views
28 Pages

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine

  • Anna Makridou,
  • Evangelie Sintou,
  • Sofia Chatzianagnosti,
  • Sofia Gargani,
  • Maria Eleni Manthou,
  • Iasonas Dermitzakis and
  • Paschalis Theotokis

Lysosomal storage disorders (LSDs) represent a diverse group of inherited metabolic diseases in which impaired lysosomal function leads to progressive accumulation of undegraded substrates and widespread cellular dysfunction. Although traditionally c...

  • Review
  • Open Access
36 Citations
10,474 Views
28 Pages

Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders

  • Marta Moskot,
  • Katarzyna Bocheńska,
  • Joanna Jakóbkiewicz-Banecka,
  • Bogdan Banecki and
  • Magdalena Gabig-Cimińska

Research in recent years has shown that sphingolipids are essential signalling molecules for the proper biological and structural functioning of cells. Long-term studies on the metabolism of sphingolipids have provided evidence for their role in the...

  • Review
  • Open Access
7 Citations
6,559 Views
14 Pages

Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with mo...

  • Review
  • Open Access
1 Citations
1,988 Views
23 Pages

Lysosomal storage disorders (LSDs) constitute a group of monogenic systemic diseases resulting from deficiencies in specific lysosomal enzymes that cause the intralysosomal accumulation of non- or partially degraded substrates, leading to lysosomal d...

  • Review
  • Open Access
1 Citations
3,485 Views
20 Pages

25 July 2025

Lysosomal storage disorders (LSDs) are inherited metabolic conditions characterized by lysosomal enzyme deficiencies leading to substrate accumulation. As genetic diseases, LSDs can be treated with gene therapies (GT), including the CRISPR/Cas system...

  • Systematic Review
  • Open Access
25 Citations
7,768 Views
23 Pages

Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification

  • Ian Keyzor,
  • Simon Shohet,
  • Jeff Castelli,
  • Sheela Sitaraman,
  • Biliana Veleva-Rotse,
  • Jill M. Weimer,
  • Brian Fox,
  • Tobias Willer,
  • Steve Tuske and
  • Klara J. Belzar
  • + 1 author

7 August 2023

The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacological chaperones are a feasible alternative to enzyme...

  • Technical Note
  • Open Access
1,983 Views
7 Pages

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns

  • Paul Dantonio,
  • Tracy Klug,
  • Golriz Yazdanpanah,
  • Christopher Haynes,
  • Hui Zhou,
  • Patrick Hopkins,
  • Robert Vogt,
  • Rachel Lee,
  • Carla Cuthbert and
  • Konstantinos Petritis

Newborn bloodspot screening for one or more lysosomal storage disorders (NBS-LSD) is currently performed by many public health NBS laboratories globally. The screening tests measure activities of selected lysosomal enzymes on dried blood spot (DBS) s...

  • Review
  • Open Access
82 Citations
11,093 Views
22 Pages

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

  • Karolina M. Stepien,
  • Federico Roncaroli,
  • Nadia Turton,
  • Christian J. Hendriksz,
  • Mark Roberts,
  • Robert A. Heaton and
  • Iain Hargreaves

11 August 2020

Mitochondrial dysfunction is emerging as an important contributory factor to the pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial dysfunction in LSDs appears to be multifactorial, although impaired mitophagy and oxida...

  • Editorial
  • Open Access
1 Citations
1 Views
7 Pages

The European Commission on Public Health defines as rare diseases life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them...

  • Article
  • Open Access
1 Citations
2,492 Views
10 Pages

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective

  • Giancarlo Castaman,
  • Silvia Linari,
  • Antonio Barbato,
  • Niko Costantino,
  • Carlo Dionisi-Vici,
  • Francesca Menni,
  • Elena Procopio,
  • Silvia Ramat,
  • Fernanda Torquati and
  • Maurizio Scarpa
  • + 1 author

20 November 2024

Background/Objective: Lysosomal storage diseases (LSDs) are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by the intralysosomal accumulation of undegraded substrates, resulting in the damage...

  • Review
  • Open Access
13 Citations
6,960 Views
6 Pages

Lysosomal Storage Disorders and Malignancy

  • Gregory M. Pastores and
  • Derralynn A. Hughes

27 February 2017

Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the...

  • Review
  • Open Access
23 Citations
6,736 Views
11 Pages

Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue!

  • Sandra Prat Castro,
  • Veronika Kudrina,
  • Dawid Jaślan,
  • Julia Böck,
  • Anna Scotto Rosato and
  • Christian Grimm

8 September 2022

Lysosomal storage diseases (LSDs) resulting from inherited gene mutations constitute a family of disorders that disturb lysosomal degradative function leading to abnormal storage of macromolecular substrates. In most LSDs, central nervous system (CNS...

  • Feature Paper
  • Review
  • Open Access
55 Citations
11,592 Views
41 Pages

Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development

  • Giulia Massaro,
  • Amy F. Geard,
  • Wenfei Liu,
  • Oliver Coombe-Tennant,
  • Simon N. Waddington,
  • Julien Baruteau,
  • Paul Gissen and
  • Ahad A. Rahim

20 April 2021

Rare monogenic disorders such as lysosomal diseases have been at the forefront in the development of novel treatments where therapeutic options are either limited or unavailable. The increasing number of successful pre-clinical and clinical studies i...

  • Review
  • Open Access
2 Citations
2,705 Views
21 Pages

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders

  • Vincenza Gragnaniello,
  • Chiara Cazzorla,
  • Daniela Gueraldi,
  • Andrea Puma,
  • Christian Loro and
  • Alberto B. Burlina

Background: Lysosomal storage disorders (LSDs) are rare inherited metabolic diseases characterized by defects in lysosomal enzyme function or membrane transport. These defects lead to substrate accumulation and multisystemic manifestations. This revi...

  • Review
  • Open Access
116 Citations
15,487 Views
22 Pages

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

  • Maria Francisca Coutinho,
  • Juliana Inês Santos and
  • Sandra Alves

Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders, usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal digestion. Even though no cure is available for any LSD, a few treatm...

  • Review
  • Open Access
23 Citations
8,805 Views
15 Pages

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders

  • Maria Francisca Coutinho,
  • Juliana Inês Santos,
  • Liliana Matos and
  • Sandra Alves

9 November 2016

Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysos...

  • Review
  • Open Access
12 Citations
7,737 Views
16 Pages

6 February 2018

Lysosomal storage disorders (LSDs) represent a group of more than 50 severe metabolic diseases caused by the deficiency of specific lysosomal hydrolases, activators, carriers, or lysosomal integral membrane proteins, leading to the abnormal accumulat...

  • Article
  • Open Access
28 Citations
5,253 Views
14 Pages

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

  • Vincenza Gragnaniello,
  • Chiara Cazzorla,
  • Daniela Gueraldi,
  • Andrea Puma,
  • Christian Loro,
  • Elena Porcù,
  • Maria Stornaiuolo,
  • Paolo Miglioranza,
  • Leonardo Salviati and
  • Alberto B. Burlina
  • + 1 author

In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is n...

  • Technical Note
  • Open Access
1 Citations
2,927 Views
6 Pages

Mucopolysaccharidosis type II (MPS-II, Hunter syndrome, OMIM:30990) is a lysosomal storage disorder (LSD) that results in iduronate 2-sulphatase (I2S) enzyme deficiency. MPS-II was added to the Recommended Uniform Screening Panel (RUSP) in August 202...

  • Review
  • Open Access
3 Citations
6,110 Views
26 Pages

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

  • Juliana Inês Santos,
  • Mariana Gonçalves,
  • Liliana Matos,
  • Luciana Moreira,
  • Sofia Carvalho,
  • Maria João Prata,
  • Maria Francisca Coutinho and
  • Sandra Alves

19 April 2022

Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have bee...

  • Review
  • Open Access
8 Citations
4,527 Views
23 Pages

16 November 2023

The recently presented Azalea Hypothesis for Alzheimer’s disease asserts that iron becomes sequestered, leading to a functional iron deficiency that contributes to neurodegeneration. Iron sequestration can occur by iron being bound to protein a...

  • Article
  • Open Access
11 Citations
4,190 Views
11 Pages

Pregnancy Outcomes in Late Onset Pompe Disease

  • Ozlem Goker-Alpan,
  • Vellore G. Kasturi,
  • Maninder K. Sohi,
  • Renuka P. Limgala,
  • Stephanie L. Austin,
  • Tabitha Jennelle,
  • Maryam Banikazemi and
  • Priya S. Kishnani

11 September 2020

There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function sec...

  • Article
  • Open Access
1,268 Views
32 Pages

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain–Midgut Axis of Drosophila melanogaster During Aging

  • Sophia P. Markaki,
  • Nikole M. Kiose,
  • Zoi A. Charitopoulou,
  • Stylianos Kougioumtzoglou,
  • Athanassios D. Velentzas and
  • Dimitrios J. Stravopodis

19 December 2025

Lysosomal storage disorders (LSDs) are a group of rare inherited diseases caused by mutations in the genes encoding the proteins involved in normal lysosomal functions, leading to an accumulation of undegraded substrates within lysosomes. Among the m...

  • Review
  • Open Access
15 Citations
4,392 Views
12 Pages

Cholesterol is the most considerable member of a family of polycyclic compounds understood as sterols, and represents an amphipathic molecule, such as phospholipids, with the polar hydroxyl group located in position 3 and the rest of the molecule is...

  • Review
  • Open Access
66 Citations
11,808 Views
20 Pages

Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages

  • Martijn J.C. Van der Lienden,
  • Paulo Gaspar,
  • Rolf Boot,
  • Johannes M.F.G. Aerts and
  • Marco Van Eijk

Several diseases are caused by inherited defects in lysosomes, the so-called lysosomal storage disorders (LSDs). In some of these LSDs, tissue macrophages transform into prominent storage cells, as is the case in Gaucher disease. Here, macrophages be...

  • Article
  • Open Access
4 Citations
3,315 Views
27 Pages

Allosteric Modulation of GCase Enhances Lysosomal Activity and Reduces ER Stress in GCase-Related Disorders

  • Ilaria Fregno,
  • Natalia Pérez-Carmona,
  • Mikhail Rudinskiy,
  • Tatiana Soldà,
  • Timothy J. Bergmann,
  • Ana Ruano,
  • Aida Delgado,
  • Elena Cubero,
  • Manolo Bellotto and
  • Maurizio Molinari
  • + 1 author

Variants in the GBA1 gene, encoding the lysosomal enzyme glucosylceramidase beta 1 (GCase), are linked to Parkinson’s disease (PD) and Gaucher disease (GD). Heterozygous variants increase PD risk, while homozygous variants lead to GD, a lysosom...

  • Article
  • Open Access
3 Citations
1,589 Views
13 Pages

Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the o...

  • Review
  • Open Access
28 Citations
7,120 Views
26 Pages

GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders

  • Macarena Martínez-Bailén,
  • Francesca Clemente,
  • Camilla Matassini and
  • Francesca Cardona

Pharmaceutical chaperones (PCs) are small compounds able to bind and stabilize misfolded proteins, allowing them to recover their native folding and thus their biological activity. In particular, lysosomal storage disorders (LSDs), a class of metabol...

  • Article
  • Open Access
14 Citations
3,855 Views
16 Pages

Defective Lysosomal Lipolysis Causes Prenatal Lipid Accumulation and Exacerbates Immediately after Birth

  • Katharina B. Kuentzel,
  • Ivan Bradić,
  • Alena Akhmetshina,
  • Melanie Korbelius,
  • Silvia Rainer,
  • Dagmar Kolb,
  • Martin Gauster,
  • Nemanja Vujić and
  • Dagmar Kratky

27 September 2021

Cholesterol and fatty acids are essential lipids that are critical for membrane biosynthesis and fetal organ development. Cholesteryl esters (CE) are degraded by hormone-sensitive lipase (HSL) in the cytosol and by lysosomal acid lipase (LAL) in the...

  • Article
  • Open Access
3 Citations
3,379 Views
23 Pages

Synthesis of “All-Cis” Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors

  • Maria Giulia Davighi,
  • Francesca Clemente,
  • Camilla Matassini,
  • Amelia Morrone,
  • Andrea Goti,
  • Macarena Martínez-Bailén and
  • Francesca Cardona

2 October 2020

Pharmacological chaperones (PCs) are small compounds able to rescue the activity of mutated lysosomal enzymes when used at subinhibitory concentrations. Nitrogen-containing glycomimetics such as aza- or iminosugars are known to behave as PCs for lyso...

  • Article
  • Open Access
5 Citations
3,220 Views
13 Pages

Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease

  • Eleonora Calzoni,
  • Giada Cerrotti,
  • Krizia Sagini,
  • Federica Delo,
  • Sandra Buratta,
  • Roberto Maria Pellegrino,
  • Husam B. R. Alabed,
  • Federica Fratini,
  • Carla Emiliani and
  • Lorena Urbanelli

Extracellular vesicles (EVs) can be isolated from biological fluids and cell culture medium. Their nanometric dimension, relative stability, and biocompatibility have raised considerable interest for their therapeutic use as delivery vehicles of macr...

  • Article
  • Open Access
8 Citations
4,322 Views
22 Pages

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes

  • Concetta De Filippis,
  • Barbara Napoli,
  • Laura Rigon,
  • Giulia Guarato,
  • Reinhard Bauer,
  • Rosella Tomanin and
  • Genny Orso

31 December 2021

Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation o...

  • Article
  • Open Access
6 Citations
3,077 Views
12 Pages

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C

  • Claudia Capitini,
  • Federica Feo,
  • Anna Caciotti,
  • Rodolfo Tonin,
  • Matteo Lulli,
  • Domenico Coviello,
  • Renzo Guerrini,
  • Martino Calamai and
  • Amelia Morrone

Background: Early diagnosis is essential in the field of lysosomal storage disorders for the proper management of patients and for starting therapies before irreversible damage occurs, particularly in neurodegenerative conditions. Currently, specific...

  • Article
  • Open Access
13 Citations
4,833 Views
21 Pages

21 March 2021

Vision loss is among the characteristic symptoms of neuronal ceroid lipofuscinosis (NCL), a fatal neurodegenerative lysosomal storage disorder. Here, we performed an in-depth analysis of retinal degeneration at the molecular and cellular levels in mi...

  • Review
  • Open Access
8 Citations
5,650 Views
18 Pages

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

  • Nuria Gómez-Cebrián,
  • Elena Gras-Colomer,
  • José Luis Poveda Andrés,
  • Antonio Pineda-Lucena and
  • Leonor Puchades-Carrasco

23 August 2023

Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, inherited disorders of metabolism, characterized by defects in lysosomal enzymes, accessory proteins, membrane transporters or trafficking proteins. Pompe disease (PD...

  • Feature Paper
  • Review
  • Open Access
12 Citations
6,188 Views
13 Pages

Lysosomal Function and Axon Guidance: Is There a Meaningful Liaison?

  • Rosa Manzoli,
  • Lorenzo Badenetti,
  • Michela Rubin and
  • Enrico Moro

29 January 2021

Axonal trajectories and neural circuit activities strongly rely on a complex system of molecular cues that finely orchestrate the patterning of neural commissures. Several of these axon guidance molecules undergo continuous recycling during brain dev...

  • Review
  • Open Access
32 Citations
6,623 Views
22 Pages

Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders that affect children and adults. They are traditionally grouped together, based on shared clinical symptoms and pathological ground. T...

  • Communication
  • Open Access
8 Citations
5,434 Views
10 Pages

Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach

  • Laura Rigon,
  • Nicole Kucharowski,
  • Franka Eckardt and
  • Reinhard Bauer

30 October 2020

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder that occurs due to the deficit of the lysosomal enzyme iduronate 2-sulfatase (IDS) that leads to the storage of the glycosaminoglycan heparan- and dermatan-sulfate in all organs a...

  • Article
  • Open Access
5 Citations
5,622 Views
13 Pages

Aspartylglucosaminidase (AGA) is a lysosomal hydrolase that participates in the breakdown of glycoproteins. Defects in the AGA gene result in a lysosomal storage disorder, aspartylglucosaminuria (AGU), that manifests mainly as progressive mental reta...

  • Review
  • Open Access
30 Citations
8,587 Views
12 Pages

Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease

  • Shani Blumenreich,
  • Or B. Barav,
  • Bethan J. Jenkins and
  • Anthony H. Futerman

The lysosome is a central player in the cell, acting as a clearing house for macromolecular degradation, but also plays a critical role in a variety of additional metabolic and regulatory processes. The lysosome has recently attracted the attention o...

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