Detect LSDs provides sponsored genetic testing for patients suspected of having an LSD. Sponsored testing for over 50 different lysosomal storage diseases A gene therapy clinical trial is enrolling children with Tay-Sachs or Sandhoff disease. Learn about participation and enrollment criteria; download a clinical trial brochure Lysosomal storage diseases (LSD) include a wide range of different disorders with variable degrees of respiratory system involvement. The purpose of this narrative review is to treat the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular pathways known so far to be involved in the pathogenesis of the disease
We will summarize the findings supporting these concepts by focusing on lysosomal storage diseases (LSDs), a class of metabolic inherited conditions characterized by global lysosomal dysfunction and often associated to a severe neurodegenerative course FIGURE 2. Timeline for discoveries on lysosomal storage disorders (LSD) and their impact on cell biology Although some of the lipidoses and mucopolysaccharidoses (MPS) were the ﬁrst of the lysosomal storage disorders to be described, much of the initial concept for the lysosome and its dysfunction came from the studies of Pompe disease If there is an indication of storage disease in paraffin and frozen sections, lectin histochemistry is a useful tool. 14 Electron microscopy of skin biopsies is a useful diagnostic tool for the diagnosis of lysosomal storage diseases, since the skin contains all the body cell types and by observing the morphological features of the storage. Lysosomal accumulation of macromolecules due to genetic metabolic storage diseases disrupts morphogenetic and growth pathways mediated by Hedgehog, mTOR, and insulin that contribute to not usually recognized secondary disease complications, such as reduced number of primary cilia and insulin resistance
Impairment of the autophagy-lysosomal system leads to accumulation of abnormal protein aggregates and dysfunctional mitochondria promoting oxidative stress and apoptosis. These are shared mechanisms of cell death in neurodegenerative disorders and lysosomal storage diseases The lysosomal pathway of apoptosis may be especially important under pathological conditions and contribute to the pathophysiology of some lysosomal storage diseases (Tardy et al., 2004). The concentration of the endopeptidases, cathepsins B and D, in the lysosomes of liver cells is very high, ∼1 mM ( Dean and Barrett, 1976 ; Mason et al. Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases characterized by lysosomal enzyme deficiency. The cardiac phenotype includes cardiomyopathy with eventual heart failure. Lysosome-mediated degradation processes, such as autophagy, maintain cellular homeostasis by discarding cellular debris and damaged organelles . The disease produces cognitive impairment, ataxia and death, often in childhood Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inherited defects in lysosomal or non-lysosomal proteins leading to lysosomal storage and global dysfunction often associated with neurodegeneration (Schultz et al., 2011; Platt et al., 2012, 2018)
The study of Lysosomal Storage Diseases has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Lysosomal Storage Diseases include Transport, Pathogenesis, Excretion, Endocytosis, Autophagy. These pathways complement our catalog of research reagents for the study of. The lysosomal storage disease pathways affecting the nervous system. nonketotic hyperglycinemia pathway . phenylketonuria pathway . Refsum disease pathway . tyrosinemia pathway + Krabbe disease pathway sialic acid storage disease pathway + sphingolipidosis pathway + Tay-Sachs disease pathway . Synonyms Lysosomal storage disorders Lysosomal storage disorders are caused by mutations in genes serving the lysosomal system—lysosomal enzymes, their transporters, or other proteins participating in lysosomal biogenesis and homeostasis
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused by the deficiency of any of the lysosomal functions, in most cases of lysosomal hydrolases. LSDs are typically characterized by storage of a variety of substrates in multiple tissues and organs and by the variable association of unusual clinical manifestations that are often responsible for physical and. Examples of lysosomal storage disorders include Gaucher's disease, Tay-Sachs disease, Sandhoff disease, and Sanfilippo syndrome. In a metabolic or genetic pathway, enzymes catalyze a series of reactions. Each enzyme is regulated or mediated by one gene through its RNA and protein products. At each phase in the pathway, enzyme activity.
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. Definition (CSP signaling pathways. Recent discovery of ferroptosis induction pathways stimulated by autophagy, so called autophagy-dependent ferroptosis, put our attention on the role of ferroptosis in lysosomal storage diseases (LSD). Lysosome dysfunction, observed in these diseases, may inﬂuence ferroptosi The autophagic pathway has been implicated in the pathogenesis of other lysosomal storage disorders including multiple sulphatase deficiency, mucopolysaccharidosis IIIA, mucolipidosis IV, Batten disease, and Niemann-Pick disease (62, 64, 66, 106). Activation of autophagy may represent a common response mechanism by affected cells trying to. Sphingolipidoses (sphingolipid lysosomal storage disorders) result in an accumulation of various sphingolipids in the lysosome. Ten main sphingolipidoses affect the glycosphingolipid pathway: Farber, Krabbe, Gaucher, Metachromatic Leukodystrophy, Fabry, Sandhoff, Niemann-Pick, Sialidosis, Tay-Sachs, and G M1 gangliosidosis. All of these disorder Disease Info Card Lysosomal Storage Diseases, Nervous System. Information about Lysosomal Storage Diseases, Nervous System: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us
This pathway provides the mechanism for therapy for lysosomal storage diseases discussed later. Although posttranslational glycosylation is common to most lysosomal enzymes, other modifications or activator proteins are necessary for the function of a subset of the hydrolases Dysfunction of the lysosomal system is associated with several neurodegenerative disorders, including Parkinson's disease and neurodegeneration in the context of lysosomal storage diseases, or LSDs. Therapeutics designed to correct lysosomal dysfunction are a promising approach to treat neurodegeneration Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease. 1,2 We know now that lysosomes are involved in numerous biological processes, and abnormalities in lysosomal function may result in a broad range of diseases. This review will briefly discuss the role of lysosomes in inflammation and how. Lysosomal storage disorders are a group of more than 50 rare diseases. They affect the lysosome -- a structure in your cells that breaks down substances such as proteins, carbohydrates, and old. glycosylsphingosines in the autophagy-lysosomal pathway. A malfunction of GCase causes Gaucher disease (GD), a severe lysosomal storage disorder with an incidence of approx. 1 in every 50,000 people worldwide . Additionally, Parkinson s as well as Alzheimer s disease have been linked to GCase deficiency [30,31]
Gaucher disease is the most common lysosomal storage disorder. It is caused by a mutation in the GBA gene, which codes for the enzyme glucocerebrosidase, also known as beta-glucosidase. For your exams, remember that Gaucher disease is autosomal recessive, meaning that an individual needs to inherit two copies of the mutated gene, one from each. be assessed to monitor disease manifestations, disease severity, and/or side effects of therapy.17 Gaucher Disease Gaucher disease (GD), the most common of the lysosomal storage disorders (LSDs), is a rare autosomal recessive metabolic disorder affecting only 1 in 40,000 in the general United States population.20,2 Lysosomal storage diseases (LSDs) are heritable (inborn) errors of metabolism that affect the function of the lysosome. LSDs comprise a group of 70 monogenic disorders of lysosomal catabolism. For example, the lysosomal storage defects in Pompe and NPC disease cause a reduction in the activity of mTOR (Lim et al., 2017; Xu et al., 2010). mTOR responds to the availability of amino acids, which recruits mTORC1 to the lysosomal surface, its site of activation (Bar-Peled and Sabatini, 2014) radative pathway that involves sequestration of a portion of cytoplasm in double-membrane autophagosomes and delivery of the cytoplasmic materials to the lysosomes for break-down and recy-cling.10 Many lysosomal storage diseases share a common autophagic defect, inefﬁ-cient autophagosome-lysosome fusion, leading to the accumulation o
However, in the last 65 years, a tremendous amount of work improved our understanding of the function of lysosomes, their continuous contact with other organelles and cellular pathways, and their contribution to the pathogenesis of a plethora of different common and rare diseases, including lysosomal storage disease [[2, 3]], neurodegenerative. Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid-containing glycosphingolipids, are especially enriched on neuronal surfaces. As amphi-philic molecules, they comprise a hydrophilic oligosaccharide chain attached to a hydrophobic membrane anchor, ceramide. Whereas glycosphingolipid formation is catalyzed by. Start studying Lysosomal Storage Diseases Part 1. Learn vocabulary, terms, and more with flashcards, games, and other study tools Furthermore, impairment of lysosomal calcium homeostasis has been implicated in several human diseases such as lysosomal storage disorders (LSDs) 4,5,6, neurodegenerative diseases 7,8,9,10,11. A new pathway to treat cystinosis, a lysosomal storage disease. 14/11/2019 . In most genetic diseases, treatment does not directly address the cause (sick genes can not yet be repaired, nor most defective proteins be replaced) but rather targets a key step in their complex consequences
Lysosomal Storage Disorders This teaching page is designed as an introduction to various aspects of the biology and clinical aspects of the lysosomal storage diseases. The headings will take you to our division's YouTube postings on this subject. Support for this education effort was provided in part by Genzyme Therapeutics Inc Annual Review of Biochemistry LYSOSOMAL ENZYMES AND THEIR RECEPTORS Kurt von Figura and Andrej Hasilik Annual Review of Biochemistry Functions of Lysosomes Christian de Duve and Robert Wattiaux Annual Review of Physiology Lysosomal Storage Diseases: From Pathophysiology to Therapy Giancarlo Parenti, Generoso Andria, and Andrea Ballabi Lysosomal storage disease therapeutics. Metabolic diseases associatedwith deficiencies in lysosomal proteins such as the hydrolytic enzymes within the glycosphingolipid biosynthetic and metabolic pathways are collectively referred to as lysosomal storage disorders. Central nervous system involvement is a key hallmark of two thirds of this. I-Cell Disease and the Common Recognition Marker of Lysosomal Enzymes Early studies of human genetic storage disorders by Elizabeth Neufeld indicated a failure to degrade cellular components, which therefore accumulated in lysosomes (Chapter 44). Soluble corrective factors from normal cells could reverse these defects whe 54. conclusion • Lysosomal storage diseases are one of the less identified animal diseases in India mainly due to lack of awareness. As these are mainly a genetic disease, early identification will help in taking proper preventive measures like excluding the related animals from breeding
Lysosomal exocytosis is a ubiquitous process negatively regulated by neuraminidase 1 (NEU1), a sialidase mutated in the glycoprotein storage disease sialidosis. In Neu1−/− mice, excessive lysosomal exocytosis is at the basis of disease pathogenesis. Yet, the tissue-specific molecular consequences of this deregulated pathway are still unfolding Fabry disease is a type of lysosomal storage disease. Lysosomes are round structures found in the cells of the body that are full of special proteins called enzymes.Lysosomal enzymes help breakdown other proteins, carbohydrates, fats, and other substances. In Fabry disease, there is not enough of the enzyme alpha-galactosidase (alpha-GAL) View Lysosomal-Storage-Disorders.pdf from NEURO 1234 at Harvard University. BIOCHEMISTRY PATHWAY SERIES FOR STEP ONE David Toomey, Section Editor Biochemistry UMass Medical School; Class o Dysfunction of Endocytic and Autophagic Pathways in a Lysosomal Storage Disease Tokiko Fukuda, MD, PhD, 1Lindsay Ewan, BA, Martina Bauer, BA, Robert J. Mattaliano, PhD,2 Kristien Zaal, PhD, 3Evelyn Ralston, PhD, Paul H. Plotz, MD,1 and Nina Raben, MD, PhD1 Objective: To understand the mechanisms of skeletal muscle destruction and resistance to enzyme replacement therapy i
This disease is the most common form of the lysosomal storage disease. Glucocerebroside particularly accumulates in macrophages leading to the formation of Gaucher's cells, which are macrophages that look like crumpled tissue paper and organs including the liver, spleen, and bone marrow The combination of altered vesicular traffic and autophagic accumulation of glycogen is clearly central in the development of the pathophysiology in Pompe disease.The autophagic pathway has been implicated in the pathogenesis of other lysosomal storage disorders including multiple sulphatase deficiency, mucopolysaccharidosis IIIA, mucolipidosis. Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta. 2009;1793:684-96. Google Scholar 13. Puri V, Watanabe R, Dominguez M, Sun X, Wheatley CL, Marks DL, et al. Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases tein, and glycogen storage diseases, depending on the type of the primary stored compound . Sphingolipidoses comprise a whole group of diseases caused by defects in the sequential lysosomal SL degrad-ation pathway . In general, sphingolipidoses have an Fig. 1 Common structures of representative SLs Disease and disorder research has been conducted in relation to the Lysosomal Transport Pathway and Cystinosis, Hereditary Diseases, Lysosomal Storage Diseases, Tissue Damage, Kidney Diseases. The study of the Lysosomal Transport Pathway has been mentioned in research publications which can be found using our bioinformatics tool below
Lysosomal storage disease. Lysosomal storage diseases comprise a group of over 70 inherited metabolic disorders caused by deficiency of certain enzymes in certain compartments of the cells that generally involve progressive neurological manifestations and that primarily affect children 1).Lysosomal storage diseases are individually rare but collectively affect 1 in 5,000 live births Lysosomal storage disorders (LSDs), which number over fifty, are monogenically inherited and caused by mutations in genes encoding proteins that are involved in lysosomal function. Lack of the functional protein results in storage of a distinctive material within the lysosomes, which for years was thought to determine the pathophysiology of the disorder Many genetically-defined rare diseases are caused by peturbations of lysosomal function. In addition to the more than 50 monogenetically defined lysosomal storage disorders, there are a variety of diorders typified by lysosomal dysfunction due to alterations in other cellular signaling pathways autophagic pathway lysosomal storage disease pompe disease ii muscle fiber gaa knock-out mouse autophagic buildup pathological hallmark skeletal muscle destruction vesicular movement lysosomal glycogen accumulation confocal microscopy late endosomes large region replacement therapy ann neurol entire length gaa-deficient myoblasts glycogen.
Elucidation of this pathway of lysosomal protein delivery, including uptake by the mannose receptors, was critical in the development of enzyme therapy for the lysosomal storage diseases [Grabowski and Hopkin, 2003] Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism caused by mutations in genes encoding for proteins necessary for lysosomal function, such as hydrolases, integral membrane proteins, cofactors, transferases, transporters, and enzymes activators, as well as several non-lysosomal proteins that participate in lysosome-associated processes  Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1) Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of speciﬁc lysosomal enzymes and, in few cases, of non-enzymatic lysosomal proteins or non-lysosomal proteins involved in lysosomal biogenesis. Th
Although neurodegenerative diseases are most prevalent in the elderly, in rare cases, they can also affect children. Lysosomal storage diseases (LSDs) are a group of inherited metabolic neurodegenerative disorders due to deficiency of a specific protein integral to lysosomal function, such as enzymes or lysosomal components, or to errors in enzyme trafficking/targeting and defective function. Disorders in which intracellular material that cannot be metabolized is stored in the lysosomes are called lysosomal storage diseases. In addition to lipid storage diseases, other lysosomal storage diseases include the mucolipidoses, in which excessive amounts of lipids with attached sugar molecules are stored in the cells and tissues, and the. Introduction. Lysosomal storage diseases are inborn errors of metabolism that are rare conditions inherited through recessive genes. There are many lysosomal storage diseases and each are caused by mutations that reduce the efficacy of lysosomal enzymes or lysosomal transporters, thus resulting in accumulation or storage of compounds within the lysosome
Lysosomal Storage Diseases. Molecular Defects More than 90% of patients clinically classified as having MFS by the Ghent criteria have a mutation in the gene for fibrillin-1 ( FBN1 ). Mutations in the same gene are found in a few patients who do not meet the Ghent criteria. Also, a few MFS patients without mutations in the FBN1 gene have. Exacerbating and reversing lysosomal storage diseases: from yeast to humans - INTRODUCTION Neurodegenerative diseases represent one of the leading causes of disability in modern populations. Approximately five million Americans currently have Alzheimer's disease, a number that is expected to be as high as 13.4 million by 2050 . It has recently become apparent that lysosomal function. Clinical Co-director, UT Lysosomal Storage Disease Center Associate Professor, Department of Pediatrics, Division of Child & Adolescent Neurology University of Texas, School of Medicine, Houston Dr. Koenig is a child & adult neurologist with training in Biochemistry, Microbiology, Pediatrics, and Neurology Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. New developments. Therapy is increasingly promising, albeit. Learn Lysosomal Storage Diseases in USMLE Step 1 - Metabolism for Medicine faster and easier with Picmonic's unforgettable videos, stories, and quizzes! Picmonic is research proven to increase your memory retention and test scores. Start learning today for free
Categories: Neurological Disorders Reference #: 2017-017. OTC Contact: Ruchika Nijhara, Ph.D., MBA, CLP (Directory Information | Send a Message)Description. The invention is a method of treating lysosomal storage disorder (LSD) by administering FDA approved tyrosine kinase inhibitors (TKI) to activate the autophagy-lysosome pathway thereby clearing toxic proteins, reducing neuronal death. Lysosomal Storage Diseases: Inborn Organelle Disorders Predominantly Affecting the CNS. Lysosomal storage diseases (LSDs) are inborn organelle disorders characterized by multisystemic and progressive manifestations, being most of them neurological in nature (Patil and Maegawa, 2013; Maegawa, 2019).Intravenous enzyme replacement therapy (ERT), the mainstay treatment for several LSDs, does not.
Alpha Mannosidosis is a rare Lysosomal Storage Disease (LSD) caused by mutations affecting the alpha-mannosidase lysosomal enzyme. This enzyme is an exoglycosidase. Read more... Symptoms & diagnosis. Signs and symptoms vary amongst people who have the condition Inborn errors of metabolism are a common cause of inherited disease (Burton, 1998), of which lysosomal storage diseases (LSDs) are a significant subgroup (Platt and Walkley, 2004; Fuller et al., 2006; Ballabio and Gieselmann, 2009).The combined incidence of LSDs is estimated to be approximately 1:5,000 live births (Fuller et al., 2006), but the true figure is likely greater when undiagnosed or. The role of the autophagy-lysosomal pathway (ALP) in neurodegenerative disease has been extensively studied in recent years, with defects in the pathway being strongly associated with disease . In particular, late-onset neurodegenerative diseases such as PD, HD, and AD are characterized by the accumulation of intracellula Lysosomal Storage Disorders. Gaucher is a rare disease with high unmet clinical needs that we aim to treat with gene therapy. SRT is taken orally two to three times per day and acts by inhibiting the metabolic pathway of the missing/dysfunctional enzyme to reduce the load on the enzyme and the accumulation of glycosphingolipids. ERT and.
The UCSF Lysosomal Storage Disease Center provides comprehensive care to patients with lysosomal storage disorders and their families. Our services include consultation, examination, testing, diagnosis, treatment and genetic counseling. These inherited diseases are caused by problems with lysosomes, components of cells that contain enzymes (chemicals that break down various substances) Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased excretion in urine of partially degraded GAGs which ultimately result in progressive cell, tissue, and organ dysfunction Lysosomal Storage Disorders Nicoletta Plotegher1 and Michael R. Duchen1,* Lysosomal storage disorders (LSDs) are rare inherited debilitating and often fatal disorders. Caused by mutations affecting lysosomal proteins, LSDs are ing the activity of common signaling pathways and crosstalk between the two organelles. In this review we explore. Lysosomal storage diseases (LSDs) are rare inborn errors of metabolism. Defective lysosomal enzymes are the chief cause. Other causes include defects in lysosomal enzyme activator, lysosomal membrane proteins, or non-lysosomal proteins. They are rare individually, some very rare, but they are much more common as a group The clinical syndrome produced in each of the lysosomal storage disease results from the aberrant storage of metabolites within cells. The storage diseases usually affect multiple organs but some, such as those that are caused by a defect in the myelin degradation pathway, may only cause neurological signs
Lysosomal Storage Disease Center. (516) 918-4800. 225 Community Drive Lake Success, NY 11020. 225 Community Drive Lake Success, NY 11020 Nonetheless, our data imply that widely used agents that alkalinise intralysosomal pH are mimetics of acute lysosomal storage disorders (LSDs) and emphasise the importance of considering the result of CQ and BafA on mTORC1 signalling when interpreting the effects of these agents on cellular physiology Pompe disease (acid maltase deficiency, glycogen storage disease type II) is caused by a deficiency of the lysosomal enzyme acid glucosidase (acid maltase). Although milder variants do occur the commonest presentation in childhood is with severe infantile disease (often called classical Pompe disease). This disorder i Lysosomal storage diseases (LSDs) are a group of metabolic diseases caused by inherited defects in lysosomal or non-lysosomal proteins leading to lysosomal storage and global dysfunction often associated with neurodegeneration ( Schultz et al., 2011; Platt et al., 2012, 2018 ). In several LSDs the primary storage caused by the specific.
While degradation of glycogen by phosphorylase and debranching enzyme can happen in the cytosol, glycogen is also degraded via a lysosomal pathway, leading to a lysosomal storage disease called Pompe disease (glycogen storage disease type 2). In Pompe disease, a mutation involving lysosomal alpha-glucosidase—also called acid maltase—developed Lipid storage disorders are a family of diverse diseases related by their molecular pathology. In each disorder, a deficiency of a lysosomal hydrolase is inherited, which leads to lysosomal accumulation of the enzyme's specific sphingolipid substrate. [ 1, 2] Lipid substrates share a common structure, including a ceramide backbone (2- N -acyl.
Review Impaired autophagy: The collateral damage of lysosomal storage disorders Rachel Myerowitza, Rosa Puertollanob, Nina Rabenb,* a Department of Biology St. Mary 's College of Maryland, St. Marys City Maryland, 20686, USA b Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, NIH, 50 South Dr./Room 3533, Bethesda, MD 20892, US Hence, lysosomal processing defects can cause cell and tissue damage, as in lysosomal storage diseases (LSDs) characterized by lysosomal accumulation of undegraded materials. This storage causes endocytic and trafficking alterations, which exacerbate disease and hinder treatment Such enzymes are critical for treating lysosomal storage diseases, in particular, Hurler syndrome. Intranasal delivery is a non-invasive method able to bypass the blood-brain barrier (BBB) to rapidly target therapeutics directly to the CNS along the olfactory and trigeminal nerve pathways
Lipid metabolism and lysosomal storage disorders associated with Parkinson's disease. Proteins indicated in orange are associated with Parkinson's disease (PD) and/or atypical Parkinsonian syndromes (APS). Proteins indicated in blue are causal for lysosomal storage disorders (LSDs) but are also linked to PD Learn more about Lysosomal Storage Disease at Doctors Hospital of Augusta DefinitionCausesRiskLysosomal storage disease is caused by a genetic problem. The genes that plan the production of the enzymes is faulty. Both Lysosomal storage disease is a group of disorders that affect specific enzymes in a specific location in the cell. These Improved metabolic correction in patients.
A key cellular homeostatic pathway implicated in several LSDs and myriad human diseases is autophagy. Autophagy is an intracellular degradation pathway essential for cellular survival and organismal health [8-10].This process is vital for the maintenance of energy and tissue homeostasis by degrading damaged or excess intracellular components such as aggregation-prone proteins, lipids and. International Journal of Molecular Sciences Review Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases Paola Faverio 1,*, Anna Stainer 1, Federica De Giacomi 1, Serena Gasperini 2, Serena Motta 2, Francesco Canonico 3, Federico Pieruzzi 4, Anna Monzani 1, Alberto Pesci 1 and Andrea Biondi 2 1 Department of Medicine and Surgery, Università degli Studi di Milano Bicocca. mucopolysaccharides. Unlike most other storage diseases, the lysosomal hydrolases participating in the catabolism of the stored molecules appear to be normal. In the present study, we examined the hypothesis that the ML-IV phenotype might arise from abnormal transport along the lysosomal pathway. By using various markers for endocytosis, we. Lysosomal storage diseases (LSDs) are inherited disorders caused by lysosomal deficiencies and characterized by dysfunction of autophagy-lysosomal pathway often associated with neurodegeneration. No cure is currently available to treat neuropathology in LSDs. By studying a mous