4,903 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome


Anderson-Fabry Disease: From Endothelial Dysfunction to Emerging Therapies.

Adv Pharmacol Pharm Sci 2021 13;2021:5548445. Epub 2021 May 13.

Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

The Anderson-Fabry disease is a rare, X-linked, multisystemic, progressive lysosomal storage disease caused by -galactosidase A total or partial deficiency. The resulting syndrome is mainly characterized by early-onset autonomic neuropathy and life-threatening multiorgan involvement, including renal insufficiency, heart disease, and early stroke. The enzyme deficiency leads to tissue accumulation of the glycosphingolipid globotriaosylceramide and its analogues, but the mechanisms linking such accumulation to organ damage are only partially understood. Read More

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Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.

Mol Genet Metab 2021 May 12. Epub 2021 May 12.

Advanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Kanagawa, Japan.

Introduction: Lysosomal storage disorders and peroxisomal disorders are rare diseases caused by the accumulation of substrates of the metabolic pathway within lysosomes and peroxisomes, respectively. Owing to the rarity of these diseases, the prevalence of lysosomal storage disorders and peroxisomal disorders in Japan is unknown. Therefore, we conducted a nationwide survey to estimate the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan. Read More

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Myeloid bodies caused by mutation: a case of concurrent COQ2 nephropathy and IgA nephropathy.

Clin Kidney J 2021 Jun 16;14(6):1697-1700. Epub 2021 Feb 16.

Institute of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China.

Immunoglobulin A (IgA) nephropathy, in the presence of myeloid bodies, has been reported in Fabry disease (FD). In this case, we excluded the diagnosis of FD by demonstrating the absence of mutation in the α-galactosidase A()gene. Our patient also denied any history of use of cationic amphiphilic drugs. Read More

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Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies.

Curr Cardiol Rep 2021 Jun 3;23(7):87. Epub 2021 Jun 3.

Division of Cardiology, Department of Medicine, Harvard Medical School, Massachusetts General Hospital, 55 Fruit St, Yawkey 5B, Boston, MA, 02114, USA.

Purpose Of Review: Diagnosis of infiltrative cardiomyopathies can be challenging despite differences in clinical manifestations due to overlapping cardiac manifestations. We review the salient findings by cardiac magnetic resonance imaging that aids in diagnosis, as well the potential implications for prognosis and treatment.

Recent Findings: Cardiac magnetic resonance imaging has added substantially to our understanding of various infiltrative cardiomyopathies, and the addition of late gadolinium enhancement imaging and parametric mapping has yielded additional insights regarding potential diagnoses, prognosis, and therapy. Read More

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LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

CEN Case Rep 2021 Jun 2. Epub 2021 Jun 2.

Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, 3-20-1 Chuo Ami, Inashiki, Ibaraki, 300-0395, Japan.

The mutation of LIM homeodomain transcription factor LMX1B gene leads to nail-patella syndrome (NPS), which is characterized by dysplastic nails, hypoplastic patellae, iliac horns and nephropathy. The characteristic renal histological finding of NPS nephropathy is irregular thickening of the glomerular basement membrane with patchy lucent areas, including deposits of bundles of type III collagen fibrils revealed by electron microscopy (EM). Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, and the characteristic EM finding is a lamellated membrane structure (myelin figures). Read More

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Therapeutic Uses of Bacterial Subunit Toxins.

Toxins (Basel) 2021 May 26;13(6). Epub 2021 May 26.

Division of Molecular Medicine, Research Institute, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

The B subunit pentamer verotoxin (VT aka Shiga toxin-Stx) binding to its cellular glycosphingolipid (GSL) receptor, globotriaosyl ceramide (Gb) mediates internalization and the subsequent receptor mediated retrograde intracellular traffic of the AB5 subunit holotoxin to the endoplasmic reticulum. Subunit separation and cytosolic A subunit transit via the ER retrotranslocon as a misfolded protein mimic, then inhibits protein synthesis to kill cells, which can cause hemolytic uremic syndrome clinically. This represents one of the most studied systems of prokaryotic hijacking of eukaryotic biology. Read More

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High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

J Clin Med 2021 May 17;10(10). Epub 2021 May 17.

Laboratory of Cardiac Imaging and 3D Printing, Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Hong Kong, China.

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Read More

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Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future.

J Clin Med 2021 May 6;10(9). Epub 2021 May 6.

Division of Cardiology, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.

Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Read More

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α-Galactosidase A Augmentation by Non-Viral Gene Therapy: Evaluation in Fabry Disease Mice.

Pharmaceutics 2021 May 21;13(6). Epub 2021 May 21.

Pharmacokinetic, Nanotechnology and Gene Therapy Group (Pharma Nano Gene), Centro de Investigación Lascaray Ikergunea, Faculty of Pharmacy, University of the Basque Country UPV/EHU, Paseo de la Universidad 7, 01006 Vitoria-Gasteiz, Spain.

Fabry disease (FD) is a monogenic X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-Galactosidase A (α-Gal A). It is a good candidate to be treated with gene therapy, in which moderately low levels of enzyme activity should be sufficient for clinical efficacy. In the present work we have evaluated the efficacy of a non-viral vector based on solid lipid nanoparticles (SLN) to increase α-Gal A activity in an FD mouse model after intravenous administration. Read More

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Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.

J Clin Med 2021 May 1;10(9). Epub 2021 May 1.

Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, 35128 Padova, Italy.

Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These "sarcomeric cardiomyopathies" also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. Read More

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Multimodality imaging for the diagnosis of infiltrative cardiomyopathies.

Heart 2021 May 26. Epub 2021 May 26.

Radiology and Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Infiltrative cardiomyopathies result from the deposition or anomalous storage of specific substances in the heart, leading to impaired cardiac function and heart failure. In this review, we describe the utility of a variety of imaging modalities for the diagnosis of infiltrative cardiomyopathies and provide algorithms for clinicians to use to evaluate patients with these disorders. We have divided infiltrative cardiomyopathies into two different categories: (1) infiltrative cardiomyopathies characterised by increased wall thickness (eg, cardiac amyloidosis and Anderson-Fabry disease (AFD)) and (2) infiltrative cardiomyopathies that can mimic ischaemic or dilated cardiomyopathies (eg, cardiac sarcoidosis (CS) and iron overload cardiomyopathy). Read More

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Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis.

Kidney Res Clin Pract 2021 May 21. Epub 2021 May 21.

Department of Biochemistry, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Background: Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in Fabry disease-related renal injury, the pathogenic link between metabolic derangement within cells and renal injury remains unclear.

Methods: Renal fibrosis was triggered by unilateral ureteral obstruction (UUO) in mice with Fabry disease to investigate the pathogenic mechanism leading to fibrosis in diseased kidneys. Read More

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Usefulness of Alcohol Septal Ablation in the Left Ventricular Outflow Tract Obstruction in Fabry Disease Cardiomyopathy.

Am J Cardiol 2021 Jul 16;150:110-113. Epub 2021 May 16.

2nd Department of Internal Medicine - Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Fabry disease (FD) is an X-linked linked genetic disorder caused by α-galactosidase A deficiency. The typical clinical manifestation is left ventricular hypertrophy, often mimicking hypertrophic cardiomyopathy (HC). In contrast to sarcomeric HC, left ventricular outflow tract obstruction (LVOTO) is less frequent. Read More

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Current and experimental therapeutics for Fabry disease.

Clin Genet 2021 May 17. Epub 2021 May 17.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

Fabry (or Anderson-Fabry) is a rare pan-ethnic disease affecting males and females. Fabry is an X-linked lysosomal storage disease, affecting glycosphingolipid metabolism, that is caused by mutations of the GLA gene that codes for α-galactosidase A. Fabry disease (FD) can be classified into a severe, classical phenotype, most often seen in men with no residual enzyme activity, that usually appear before 18 years and a usually milder, nonclassical (later-onset) phenotype that usually appear above 18 years. Read More

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Screening for Fabry disease in male patients with end-stage renal disease in western France.

Nephrol Ther 2021 Jun 11;17(3):180-184. Epub 2021 May 11.

Department of Nephrology, University of Nantes, 44093 Nantes cedex 01, France.

Context: Fabry disease is a rare X-linked genetic disease due to pathogenic variants in the GLA gene. Classic Fabry disease is characterized by glycosphingolipids accumulation in all organs including the kidney, resulting in end-stage renal disease in a subset of male patients. Fabry disease should therefore be considered in the differential diagnosis of patients with unexplained end-stage renal disease. Read More

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Case Report: First Two Identified Cases of Fabry Disease in Central Asia.

Front Genet 2021 27;12:657824. Epub 2021 Apr 27.

Faculty of Medicine, University of Puthisastra, Phnom Penh, Cambodia.

Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb) and its derivative globotriaosylsphingosine or lyso-Gb. Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment. Read More

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Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.

JIMD Rep 2021 May 27;59(1):60-68. Epub 2021 Jan 27.

Developmental Neuropsychopharmacology Laboratory, Department of Anatomy Howard University College of Medicine Washington District of Columbia USA.

Population studies point to regional and ethnicity-specific differences in genetic predisposition for some lysosomal storage disorders (LSDs). The aim of the study was to determine the prevalence of the three treatable forms of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of mostly urban-dwelling individuals of African ancestry, a previously unknown genetic landscape for LSDs. Large-scale selective multistep biochemical and genetic screening was performed in patients seeking healthcare for various health concerns. Read More

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Contemporary therapeutics and new drug developments for treatment of Fabry disease: a narrative review.

Cardiovasc Diagn Ther 2021 Apr;11(2):683-695

Department of Internal Medicine I, Fabry Center for Interdisciplinary Therapy (FAZIT) and Comprehensive Heart Failure Center (CHFC), University Hospital Würzburg, Würzburg, Germany.

Fabry disease (OMIM 301500) is an X-linked (Xq22.1) lysosomal storage disorder leading to a progressive multisystem disease with high variability in both genotype and phenotype expression. The pathophysiological origin is found in an enzyme deficiency of the α-galactosidase A (enzyme commission no. Read More

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Fabry disease-what cardiologists can learn from the nephrologist: a narrative review.

Cardiovasc Diagn Ther 2021 Apr;11(2):672-682

Department II of Internal Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting in decreased or absent activity of the lysosomal enzyme alpha-galactosidase A. Subsequent accumulation of storage material can occur in virtually all cells of the body. Organs and structures affected by storage material deposition include the heart, the kidney, the central and peripheral nervous system and the cornea of the eyes. Read More

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Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.

Cardiovasc Diagn Ther 2021 Apr;11(2):661-671

Department of Nephrology, Technical University of Munich, School of Medicine, Klinikum rechts der Isar, Munich, Germany.

Fabry disease (FD) is a rare X chromosomally transmitted lysosomal storage disorders with an absence or deficiency of the enzyme alpha-galactosidase. The deposition of globotriaosylceramide (Gb3) may cause damage to all organs, particularly brain, heart and kidney. While acroparaesthesia, hypo- or anhydrosis and diarrhoea are the main symptoms in childhood, cardiac involvement with left ventricular hypertrophy (LVH), renal insufficiency, diffuse pain attacks and apoplexy are the main symptoms in adulthood. Read More

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Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations.

Cardiovasc Diagn Ther 2021 Apr;11(2):650-660

2nd Department of Internal Cardiovascular Medicine, General University Hospital, Prague, Czech Republic.

Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in the AGAL-A gene (). Tissue and organ changes are caused by widespread progressive accumulation of globotriaosylceramide (Gb) and globotriaosylsphingosine (lysoGb). The classical form of FD is multisystemic with cutaneous (angiokeratomas), neurological (peripheral neuropathy, premature stroke), renal (proteinuria and renal insufficiency), and cardiac involvement. Read More

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Left ventricular noncompaction and Fabry disease: two diagnoses in one heart?

Clin Res Cardiol 2021 May 7. Epub 2021 May 7.

Department of Interventional Cardiology and Angiology, Cardinal Wyszynski National Institute of Cardiology, Alpejska 42, 04-628, Warsaw, Poland.

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X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.

Mov Disord 2021 May 7. Epub 2021 May 7.

IRCCS Mondino Foundation, Pavia, Italy.

X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non-neurological signs. In particular, a childhood-onset encephalopathy with epilepsy and/or cognitive disability is the most common feature. Read More

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Sphingolipid lysosomal storage diseases: from bench to bedside.

Lipids Health Dis 2021 May 3;20(1):44. Epub 2021 May 3.

Department of Biology and Biochemistry, Birzeit University, P.O. Box 14, Ramallah, West Bank, 627, Palestine.

Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability. Currently, sphingolipids and their metabolism are hotly debated topics in various biochemical fields. Similar to other macromolecular reactions, SL metabolism has important implications in health and disease in most cells. Read More

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Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.

J Genet Couns 2021 May 3. Epub 2021 May 3.

Department of Human Genetics, Emory University, Atlanta, GA, USA.

Lysosomal storage diseases (LSDs) are a heterogeneous group of conditions causing substrate accumulation leading to progressive organ damage. Newborn screening (NBS) for several LSDs has become available in recent years due to advances in technology and treatment availability. While early initiation of treatment is lifesaving for those with infantile presentations, controversy continues regarding diagnosis of milder, later-onset diseases in infancy, including creation of pre-symptomatic populations of 'patients-in-waiting', the potential for medicalization, stigmatization, and/or discrimination. Read More

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Fabry disease and kidney involvement: starting from childhood to understand the future.

Pediatr Nephrol 2021 Apr 30. Epub 2021 Apr 30.

Nephrology and Dialysis Unit, Papardo Hospital, Messina, Italy.

The accumulation of globotriaosylceramide (Gb-3) in multiple organs, such as the heart, kidney, and nervous system, due to mutations in the galactosidase alpha (GLA) gene, represents the key point of Fabry disease (FD). The common symptoms appear in childhood or adolescence, including neuropathic pain, angiokeratoma, acroparesthesia, and corneal opacities. A multi-organ involvement induces a significant deterioration in the quality of life with high mortality in adulthood. Read More

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Interstitial lung disease in lysosomal storage disorders.

Eur Respir Rev 2021 Jun 29;30(160). Epub 2021 Apr 29.

Service de Médecine Interne, Groupe Hospitalier Diaconesses Croix Saint-Simon, Paris, France.

Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal enzymes. Three LSDs are associated with lung involvement and/or interstitial lung disease (ILD): Gaucher disease (GD); Niemann-Pick disease, also known as acid sphingomyelinase deficiency (ASMD); and Fabry disease (FD). Read More

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Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.

J Clin Med 2021 Apr 13;10(8). Epub 2021 Apr 13.

Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.

Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pathogenic mechanisms in which several mediators could be implicated, inducing multiorgan lesions, mainly in the kidney, heart and nervous system, resulting in clinical manifestations of the disease. Enzyme replacement therapy was shown to delay disease progression, mainly if initiated early. Read More

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Fabry Disease and the Heart: A Comprehensive Review.

Int J Mol Sci 2021 Apr 23;22(9). Epub 2021 Apr 23.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057 Braga, Portugal.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD. Read More

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Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation.

Biomedicines 2021 Apr 21;9(5). Epub 2021 Apr 21.

Rare and Neurologic Diseases Research Therapeutic Area, Sanofi, 49 New York Ave., Framingham, MA 01701, USA.

Genetic, epidemiological and experimental evidence implicate lysosomal dysfunction in Parkinson's disease (PD) and related synucleinopathies. Investigate several mouse models of lysosomal storage diseases (LSDs) and evaluate pathologies reminiscent of synucleinopathies. We obtained brain tissue from symptomatic mouse models of Gaucher, Fabry, Sandhoff, Niemann-Pick A (NPA), Hurler, Pompe and Niemann-Pick C (NPC) diseases and assessed for the presence of Lewy body-like pathology (proteinase K-resistant α-synuclein and tau aggregates) and neuroinflammation (microglial Iba1 and astrocytic GFAP) by immunofluorescence. Read More

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