ReviewAnnals of the New York Academy of Sciences2016
Disease models for the development of therapies for lysosomal storage diseases.
Review in Annals of the New York Academy of Sciences, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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
21 citing papers in PubMed.
- Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.Neurology international · 2025Review
- Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders.Journal of inherited metabolic disease · 2025Article
- Changing clinical manifestations of Gaucher disease in Taiwan.Orphanet journal of rare diseases · 2023Article
- The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.The ocular surface · 2023Article
- Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.Advanced drug delivery reviews · 2023Review
- Therapeutic Strategies For Tay-Sachs Disease.Frontiers in pharmacology · 2022Review
- Clinical Trials for Gene Therapy in Lysosomal Diseases With CNS Involvement.Frontiers in molecular biosciences · 2021Review
- N-Glycan Biosynthesis: Basic Principles and Factors Affecting Its Outcome.Experientia supplementum (2012) · 2021Review
- Stem Cell Applications in Lysosomal Storage Disorders: Progress and Ongoing Challenges.Advances in experimental medicine and biology · 2021Article
- Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy.Histochemistry and cell biology · 2020Article
- Modeling Lysosomal Storage Diseases in the Zebrafish.Frontiers in molecular biosciences · 2020Review
- Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.Frontiers in molecular biosciences · 2020Review
- Induced pluripotent stem cells for neural drug discovery.Drug discovery today · 2019Review
- Production of Therapeutic Enzymes by Lentivirus Transgenesis.Advances in experimental medicine and biology · 2019Review
- Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation.Journal of neuromuscular diseases · 2019Review
- Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.Human molecular genetics · 2018Article
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- Emptying the stores: lysosomal diseases and therapeutic strategies.Nature reviews. Drug discovery · 2018Review
- Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?International journal of molecular sciences · 2017Review
- Protecting cells by protecting their vulnerable lysosomes: Identification of a new mechanism for preserving lysosomal functional integrity upon oxidative stress.PLoS genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Lysosomal storage diseases (LSDs) are a group of rare diseases in which the function of the lysosome is disrupted by the accumulation of macromolecules. The complexity underlying the pathogenesis of LSDs and the small, often pediatric, population of patients make the development of therapies for these diseases challenging. Current treatments are only available for a small subset of LSDs and have not been effective at treating neurological symptoms. Disease-relevant cellular and animal models with high clinical predictability are critical for the discovery and development of new treatments for LSDs. In this paper, we review how LSD patient primary cells and induced pluripotent stem cell-derived cellular models are providing novel assay systems in which phenotypes are more similar to those of the human LSD physiology. Furthermore, larger animal disease models are providing additional tools for evaluation of the efficacy of drug candidates. Early predictors of efficacy and better understanding of disease biology can significantly affect the translational process by focusing efforts on those therapies with the higher probability of success, thus decreasing overall time and cost spent in clinical development and increasing the overall positive outcomes in clinical trials.
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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.