ReviewThe Journal of cell biology2012
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction.
Review in The Journal of cell biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 367 papers, 1 of them a synthesis that pooled it.
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
367 citing papers in PubMed, 1 synthesis or guideline pooled it, 688 citations in OpenAlex.
- A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.Journal of inherited metabolic disease · 2022Pooled it
- Mitophagy coordinates organelle crosstalk in health and diseases.Signal transduction and targeted therapy · 2026Review
- Astrocytes in Neurodegeneration: Spatial States, Crosstalk, and Emerging Therapies.Molecular neurobiology · 2026Review
- M6PR/IGF2R double-knockout supplies therapeutic sources for mucolipidosis II and Niemann-Pick C2.The Journal of biological chemistry · 2026Article
- PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.Neurogenetics · 2026Review
- The new frontier of newborn screening: integrating genomics, metabolomics, and data science for inborn errors of metabolism.Orphanet journal of rare diseases · 2026Review
- Peroxisome-derived ether lipids regulate lysosomal exocytosis.The EMBO journal · 2026Article
- Real world outcomes of Fabry disease in Italian excellence centers: the ground study.Orphanet journal of rare diseases · 2026Observational
- Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy.Diagnostics (Basel, Switzerland) · 2026Article
- Single-Cell Proteomics Decodes the Cellular Response to Lysosomal Storage inInternational journal of molecular sciences · 2026Article
- Hyper-maturity and accelerated aging in the hippocampus of mouse models of neuropsychiatric disorders with anxiety-like behavior.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novelMolecular genetics and metabolism reports · 2026Article
- Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease.Cells · 2026Review
- Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.Disease models & mechanisms · 2026Article
- Microbial tryptophan metabolism activates host lysosomal activity to facilitate lipid breakdown.PLoS biology · 2026Article
- NoxO1 promotes endosome formation and reduces intracellular vesicle processing.Redox biology · 2026Article
- TMEM175 does not function as a proton-selective ion channel to prevent lysosomal over-acidification.The Journal of cell biology · 2026Article
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.BMC medical genomics · 2025Article
307 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which lead to abnormal storage of macromolecular substrates. Valuable insights into lysosome functions have emerged from research into these diseases. In addition to primary lysosomal dysfunction, cellular pathways associated with other membrane-bound organelles are perturbed in these disorders. Through selective examples, we illustrate why the term "cellular storage disorders" may be a more appropriate description of these diseases and discuss therapies that can alleviate storage and restore normal cellular function.
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What OpenQuestion holds
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.