ReviewJournal of inherited metabolic disease2009
Pathogenic cascades in lysosomal disease-Why so complex?
Review in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 134 citations in OpenAlex.
- Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.Molecular genetics and metabolism · 2026Article
- Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives.ACS pharmacology & translational science · 2026Review
- Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry DiseaseBalkan medical journal · 2024Article
- Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications.Frontiers in cardiovascular medicine · 2024Review
- In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.Genetics and molecular biology · 2023Article
- Human Placental Intracellular Cholesterol Transport: A Focus on Lysosomal and Mitochondrial Dysfunction and Oxidative Stress.Antioxidants (Basel, Switzerland) · 2022Review
- Innate Immunity in Mucopolysaccharide Diseases.International journal of molecular sciences · 2022Review
- Endosomal-lysosomal dysfunctions in Alzheimer's disease: Pathogenesis and therapeutic interventions.Metabolic brain disease · 2021Review
- Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.Clinics (Sao Paulo, Brazil) · 2021Article
- Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease.Molecular therapy. Methods & clinical development · 2020Article
- Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach.International journal of molecular sciences · 2020Review
- Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease.International journal of molecular sciences · 2020Review
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.Frontiers in molecular biosciences · 2020Review
- Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.Frontiers in molecular biosciences · 2020Review
- Brain-targeted enzyme-loaded nanoparticles: A breach through the blood-brain barrier for enzyme replacement therapy in Krabbe disease.Science advances · 2019Article
- Lysosome biogenesis in health and disease.Journal of neurochemistry · 2019Review
- Skeletal Dysplasias: Growing Therapy for Growing Bones.Frontiers in pharmacology · 2017Review
- Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Frontiers in molecular neuroscience · 2017Review
- Age-dependent development of liver fibrosis in Glmp (gt/gt) mice.Fibrogenesis & tissue repair · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Lysosomal disease represents a large group of more than 50 clinically recognized conditions resulting from inborn errors of metabolism affecting the organelle known as the lysosome. The lysosome is an integral part of the larger endosomal/lysosomal system, and is closely allied with the ubiquitin-proteosomal and autophagosomal systems, which together comprise essential cell machinery for substrate degradation and recycling, homeostatic control, and signalling. More than two-thirds of lysosomal diseases affect the brain, with neurons appearing particularly vulnerable to lysosomal compromise and showing diverse consequences ranging from specific axonal and dendritic abnormalities to neuron death. While failure of lysosomal function characteristically leads to lysosomal storage, new studies argue that lysosomal diseases may also be appropriately viewed as 'states of deficiency' rather than simply overabundance (storage). Interference with signalling events and salvage processing normally controlled by the endosomal/lysosomal system may represent key mechanisms accounting for the inherent complexity of lysosomal disorders. Analysis of lysosomal disease pathogenesis provides a unique window through which to observe the importance of the greater lysosomal system for normal cell health.
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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.