Results 51 to 60 of about 2,604,703 (185)
Nature Communications, 2021 Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin +18 more
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Expression variation in lysosomal storage disorder genes [PDF]
, 2006 Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively.
Mason, Lyndel Ann
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Dermatological Characteristics in a Cohort of Patients with Mucopolysaccharidosis from Southwestern Colombia [PDF]
Journal of Inborn Errors of Metabolism and ScreeningBackground: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders characterized by glycosaminoglycan accumulation and multisystem involvement, including underreported dermatological features.
Johan Conquett Huertas +3 more
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Recent advances in gene therapy for lysosomal storage disorders [PDF]
, 2015 David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
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Journal of Lipid Research, 2006 Much is now understood concerning the synthesis of prenylated and palmitoylated proteins, but what is known of their metabolic fate? This review details metabolic pathways for the lysosomal degradation of S-fatty acylated and prenylated proteins. Central
Jui-Yun Lu, Sandra L. Hofmann
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Lysosomal Storage Disease (LSDs) [PDF]
, 2015 How to Cite this Article: Ghofrani M. Lysosomal Storage Disease (LSDs). Iran J Child Neurol.
GHOFRANI, Mohammad
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A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder
, 2014 Sulfatases are key enzymatic regulators of sulfate homeostasis with several biological functions including degradation of glycosaminoglycans (GAGs) and other macromolecules in lysosomes.
Di Malta, Chiara +5 more
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JCI Insight, 2020 Although congenital heart defects (CHDs) represent the most common birth defect, a comprehensive understanding of disease etiology remains unknown.
Po-Nien Lu +5 more
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Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy
Orphanet Journal of Rare Diseases, 2022 Background Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients
Ravi Vijapurapu +11 more
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A new lysosomal storage disorder resembling Morquio syndrome in sibs
, 2012 International audienceWe report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children
Quoc, Emmanuel Bui +14 more
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