ReviewMetabolic brain disease2012
Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms.
Review in Metabolic brain disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 62 citations in OpenAlex.
- Resveratrol Attenuates CSF Markers of Neurodegeneration and Neuroinflammation in Individuals with Alzheimer's Disease.International journal of molecular sciences · 2025Trial
- Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.Molecular genetics and metabolismTrial
- Autolysosomal enhancer GHF201 attenuates pathophysiology in a mucopolysaccharidosis type I mouse model.Life science alliance · 2026Article
- Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer's disease research.Neural regeneration research · 2026Article
- Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.Journal of inherited metabolic disease · 2025Article
- Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.Annals of neurology · 2023Article
- Incidence of Bloodstream Infections after Hematopoietic Stem Cell Transplantation for Hurler Syndrome.Transplantation and cellular therapy · 2023Article
- Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.Diseases (Basel, Switzerland) · 2023Article
- Hematopoietic Stem Cell Transplantation for Neurological Disorders: A Focus on Inborn Errors of Metabolism.Frontiers in cellular neuroscience · 2022Review
- The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.Frontiers in pharmacology · 2022Review
- Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.Frontiers in molecular biosciences · 2021Article
- Mucopolysaccharidosis III: Molecular basis and treatment.Pediatric endocrinology, diabetes, and metabolism · 2021Review
- Morphological damage in Sertoli, myoid and interstitial cells in a mouse model of mucopolysaccharidosis type I (MPS I).Molecular biology reports · 2021Article
- Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases.International journal of molecular sciences · 2020Review
- Review
- Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex.International journal of molecular sciences · 2020Article
- Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.Neurology · 2019Article
- Lysosome trafficking and signaling in health and neurodegenerative diseases.Neurobiology of disease · 2019Review
- Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism.Frontiers in pediatrics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis type I is one of the most frequent lysosomal storage diseases. It has a high morbidity and mortality, causing in many cases severe neurological and somatic damage in the first years of life. Although the clinical phenotypes have been described for decades, and the enzymatic deficiency and many of the mutations that cause this disease are well known, the underlying pathophysiological mechanisms that lead to its development are not completely understood. In this review we describe and discuss the different pathogenic mechanisms currently proposed for this disease regarding its neurological damage. Deficiency in the lysosomal degradation of heparan sulfate and dermatan sulfate, as well as its primary accumulation, may disrupt a variety of physiological and biochemical processes: the intracellular and extracellular homeostasis of these macromolecules, the pathways related to gangliosides metabolism, mechanisms related to the activation of inflammation, receptor-mediated signaling, oxidative stress and permeability of the lysosomal membrane, as well as alterations in intracellular ionic homeostasis and the endosomal pathway. Many of the pathogenic mechanisms proposed for mucopolysaccharidosis type I are also present in other lysosomal storage diseases with neurological implications. Results from the use of methods that allow the analysis of multiple genes and proteins, in both patients and animal models, will shed light on the role of each of these mechanisms and their combination in the development of different phenotypes due to the same deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.