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Lysosomal Storage Disease

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1. Common hereditary lysosomal storage diseases

Common hereditary lysosomal storage diseases Common hereditary lysosomal storage diseases - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Common hereditary lysosomal storage diseases Last reviewed: February 2019 Last updated: February 2019 Summary A group of diverse inherited disorders that arise from deficiency of enzymes required for the breakdown of products of intermediary metabolism. Diagnosis depends on a high (...) is strongly advised so that patients and families may be assessed by a multidisciplinary team familiar with the disease. Significant advances in treatment have occurred in recent years such that the outlook for patients has substantially changed. Specific treatments limited to certain subtypes include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited deficiency of one of over 40 lysosomal enzymes

2019 BMJ Best Practice

2. Common hereditary lysosomal storage diseases

Common hereditary lysosomal storage diseases Common hereditary lysosomal storage diseases - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Common hereditary lysosomal storage diseases Last reviewed: February 2019 Last updated: February 2019 Summary A group of diverse inherited disorders that arise from deficiency of enzymes required for the breakdown of products of intermediary metabolism. Diagnosis depends on a high (...) is strongly advised so that patients and families may be assessed by a multidisciplinary team familiar with the disease. Significant advances in treatment have occurred in recent years such that the outlook for patients has substantially changed. Specific treatments limited to certain subtypes include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation. Definition Lysosomal storage diseases (LSDs) are due to the inherited deficiency of one of over 40 lysosomal enzymes

2018 BMJ Best Practice

3. Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease. (PubMed)

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease. Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis. Significant degrees of amelioration occur in patients upon introduction of specific therapies; however, restoration to complete health status is not always achieved. The idea of an adjunctive therapy that targets inflammation (...) may be a suitable option for patients. PPS is a mixture of semisynthetic sulfated polyanions that have been shown to have anti-inflammatory effects in mucopolysaccharidosis type I and II patients and animal models of type I, IIIA and VI. We hypothesized PPS could be a useful adjunctive therapy to inflammation for Gaucher and Fabry diseases. The objective of this work is to analyze the in vitro effect of PPS on inflammatory cytokines in cellular models of Gaucher and Fabry diseases, and to study

2019 PLoS ONE

4. Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. (PubMed)

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme's metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme (...) activity. Gaucher's can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 - present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range

2019 British Journal of Ophthalmology

5. Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. (PubMed)

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal-recessive or X-linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates. Although lysosomal storage disorders are diagnosed predominantly in children, many show variable expressivity with clinical presentations possible later in life. Given the important (...) role of lysosomes in neuronal homeostasis, neurological manifestations, including movement disorders, can accompany many lysosomal storage disorders. Over the last decade, evidence from genetics, clinical epidemiology, cell biology, and biochemistry have converged to implicate links between lysosomal storage disorders and adult-onset movement disorders. The strongest evidence comes from mutations in Glucocerebrosidase, which cause Gaucher's disease and are among the most common and potent risk

2019 Movement Disorders

6. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience. (PubMed)

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience. 31411753 2019 08 23 1097-0223 2019 Aug 14 Prenatal diagnosis Prenat. Diagn. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience. 10.1002/pd.5547 Unal Canan C https://orcid.org/0000-0003-0881-2831 Division (...) of prenatal enzymatic diagnostic studies for detecting lysosomal storage diseases (LSDs) during 1992 to 2018. Pregnancies subjected to “prenatal enzymatic diagnosis of LSDs” during 1992 to 2018 were retrospectively evaluated in terms of invasive prenatal tests, type of LSDs, and obstetric outcomes. A total of 142 pregnancies were evaluated for various types of LSDs of which 30, 103, and 9 cases were subjected to amniocentesis, chorionic villus sampling, and fetal blood sampling, respectively

2019 Prenatal diagnosis

7. A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. (PubMed)

A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. Travel burden often substantially limits the ability of individuals to participate in clinical trials. Wide geographic dispersion of individuals with rare diseases poses an additional key challenge in the conduct of clinical trials for rare diseases. Novel technologies and methods can improve access to research by connecting participants in their homes and local communities (...) to a distant research site. For clinical trials, however, understanding of factors important for transition from traditional multi-center trial models to local participation models is limited. We sought to test a novel, hybrid, single- and multi-site clinical trial design in the context of a trial for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), a very rare pediatric neurodegenerative disorder.We created a "hub and spoke" model for implementing a 22-week crossover clinical trial of mycophenolate

2019 Clinical trials (London, England) Controlled trial quality: uncertain

8. Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model (PubMed)

Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model Defective lysosomal acidification contributes to virtually all lysosomal storage disorders (LSDs) and to common neurodegenerative diseases like Alzheimer's and Parkinson's. Despite its fundamental importance, the mechanism(s) underlying this defect remains unclear. The v-ATPase, a multisubunit protein complex composed of cytosolic V1-sector and lysosomal membrane (...) with a thioesterase (Ppt1)-mimetic, NtBuHA, ameliorated this defect. Our findings reveal an unanticipated role of Cln1 in regulating lysosomal targeting of V0a1 and suggest that varying factors adversely affecting v-ATPase function dysregulate lysosomal acidification in other LSDs and common neurodegenerative diseases.

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2017 Nature communications

9. Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy. (PubMed)

Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy. Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. This study (...) attempted to identify the prevalence of LALD from patients with abnormal results in laboratory databases.Electronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of low high-density lipoprotein-cholesterol (≤0.85 mmol/L; 33 mg/dL) and with elevated alanine or aspartate transaminases (≥60 IU/L) on one occasion or more over a 3-year time interval. Patients were recalled, and a dried blood spot sample was collected for lysosomal acid lipase

2018 Journal of Clinical Pathology

10. Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases. (PubMed)

Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases. To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods.25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included

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2017 PLoS ONE

11. SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. (PubMed)

SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. Lysosomal storage diseases (LSDs) are a group of genetic disorders, resulting from deficiencies of lysosomal enzyme. Genotype-phenotype correlation is essential for timely and proper treatment allocation. Recently, by integrating prediction outcomes of 7 bioinformatics tools, we developed a SAAMP algorithm to predict the impact of individual amino-acid substitution. To optimize this approach, we (...) the phenotype severity of known disease-causing mutations of the GLB1 gene, which lead to 2 LSDs (GM1 gangliosidosis and Morquio disease type B). Based on the previous literature and structural analysis, we associated these mutations with disease subtypes and proposed a theory to explain the complicated genotype-phenotype correlation. Collectively, an updated guideline for phenotype prediction with SAAMP 2.0 was proposed, which will provide essential information for early diagnosis and proper treatment

2018 Clinical Genetics

12. Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones (PubMed)

Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones Misfolding of proteins is the basis of several proteinopathies. Chemical and pharmacological chaperones are small molecules capable of inducing the correct conformation of proteins, thus being of interest for human therapeutics. The most recent developments in medicinal chemistry and in the drug development of pharmacological chaperones are discussed, with focus on lysosomal storage diseases.

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2018 Chemical Science

13. Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders (PubMed)

Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders 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 pathogenesis of a number of diseases. As many inflammatory diseases, such as lysosomal storage disorders and some dermatologic diseases, including (...) psoriasis, atopic dermatitis and ichthyoses, are associated with the altered composition and metabolism of sphingolipids, more studies precisely determining the responsibilities of these compounds for disease states are required to develop novel pharmacological treatment opportunities. It is worth emphasizing that knowledge from the study of inflammatory metabolic diseases and especially the possibility of their treatment may lead to insight into related metabolic pathways, including those involved

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2018 International journal of molecular sciences

14. Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney (PubMed)

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney The endolysosomal system sustains the reabsorptive activity of specialized epithelial cells. Lysosomal storage diseases such as nephropathic cystinosis cause a major dysfunction of epithelial cells lining the kidney tubule, resulting in massive losses of vital solutes in the urine. The mechanisms linking lysosomal defects and epithelial dysfunction remain unknown, preventing the development of disease (...) defect, neutralization of mitochondrial oxidative stress, and blockage of tight junction-associated ZONAB signaling rescue the epithelial function. We suggest a link between defective lysosome-autophagy degradation pathways and epithelial dysfunction, providing new therapeutic perspectives for lysosomal storage disorders.

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2018 Nature communications

15. Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil (PubMed)

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital (...) microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory.

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2018 Genetics and molecular biology

16. Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease (PubMed)

Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease 30023307 2018 11 14 2214-4269 15 2018 Jun Molecular genetics and metabolism reports Mol Genet Metab Rep Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease. 135-136 10.1016/j.ymgmr.2018.05.001 Calderón Juan F JF Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana, Universidad del Desarrollo, Santiago, Chile

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2018 Molecular genetics and metabolism reports

17. Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases (PubMed)

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases Lysosomal storage diseases (LSDs) comprise a large group of disorders of catabolism, mostly due to deficiency of a single glycan-cleaving hydrolase. The consequent endo-lysosomal accumulation of undigested or partially digested substrates in cells of virtually all organs, including the nervous system, is diagnostic of these diseases and underlies pathogenesis. A subgroup of LSDs, the glycosphingolipidoses, are caused (...) , in lysosomes alters the lipid conformation and functional properties of the MAMs and leads to neuronal cell death and neurodegeneration.

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2018 Cell death & disease

18. UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. (PubMed)

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. The glycoproteinoses are a subgroup of lysosomal storage diseases (LSDs) resulting from impaired degradation of N-linked oligosaccharide side chains of glycoproteins, which are commonly screened by detecting the accumulated free oligosaccharides (FOSs) in urine via thin layer chromatography (TLC). The traditional TLC method suffers from limited analytical (...) analysis was performed on a triple quadrupole mass spectrometer using an amide column for separation of derivatized FOS. Urine samples from >100 unaffected controls and 37 patients with various LSDs were studied.Relative quantification was conducted on 7 selected FOSs using a single internal standard, which allowed the identification of patients with 1 of 8 different LSDs: aspartylglucosaminuria, α-fucosidosis, α-mannosidosis, β-mannosidosis, β-galactosidase deficiency, Sandhoff disease, sialidosis

2018 Clinical Chemistry

19. Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases (PubMed)

Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders (...) such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system. Here, I will highlight the lipid abnormalities and clinical manifestations that are common to LSDs and several diseases of the motor system, including amyotrophic lateral sclerosis (ALS), atypical forms of spinal muscular atrophy, Charcot-Marie-Tooth disease (CMT), hereditary spastic paraplegia (HSP), multiple system atrophy (MSA), PD

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2017 Frontiers in molecular neuroscience

20. Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases (PubMed)

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases Lysosomal storage disorders (LSDs) are inherited diseases characterized by lysosomal dysfunction and often showing a neurodegenerative course. There is no cure to treat the central nervous system in LSDs. Moreover, the mechanisms driving neuronal degeneration in these pathological conditions remain largely unknown. By studying mouse models (...) of LSDs, we found that neurodegeneration develops progressively with profound alterations in presynaptic structure and function. In these models, impaired lysosomal activity causes massive perikaryal accumulation of insoluble α-synuclein and increased proteasomal degradation of cysteine string protein α (CSPα). As a result, the availability of both α-synuclein and CSPα at nerve terminals strongly decreases, thus inhibiting soluble NSF attachment receptor (SNARE) complex assembly and synaptic vesicle

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2016 EMBO molecular medicine

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