ReviewMolecular genetics and metabolism2011
Mucolipidosis type IV: an update.
Review in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
45 citing papers in PubMed, 100 citations in OpenAlex.
- The lysosomal cation channel TRPML1 regulates the oligodendrocyte cytoskeleton.bioRxiv : the preprint server for biology · 2026Article
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 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
- Article
- Exogenous estrogen partially rescues progesterone deficiency and autophagosome enlargement inReproductive and developmental medicine · 2024Article
- Uncovering the role of transient receptor potential channels in pterygium: a machine learning approach.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2023Article
- Gene therapy for lysosomal storage diseases: Current clinical trial prospects.Frontiers in genetics · 2023Review
- Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations.Frontiers in pediatrics · 2023Article
- Article
- [Late onset visual loss due to retinal atrophy in atypical mucolipidosis type IV].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2022Article
- White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.Metabolic brain disease · 2021Article
- New Insights on the Role of TRP Channels in Calcium Signalling and Immunomodulation: Review of Pathways and Implications for Clinical Practice.Clinical reviews in allergy & immunology · 2021Review
- Transmembrane 163 (TMEM163) Protein: A New Member of the Zinc Efflux Transporter Family.Biomedicines · 2021Review
- Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.Orphanet journal of rare diseases · 2021Article
- Inherited disorders of lysosomal membrane transporters.Biochimica et biophysica acta. Biomembranes · 2020Review
- Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.International journal of molecular sciences · 2020Review
- Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†.Biology of reproduction · 2019Article
- Dysregulation of Microglial Function Contributes to Neuronal Impairment in Mcoln1a-Deficient Zebrafish.iScience · 2019Article
- Exosomal release through TRPML1-mediated lysosomal exocytosis is required for adipogenesis.Biochemical and biophysical research communications · 2019Article
- Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.Human molecular genetics · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. It is characterized by the presence of lysosomal inclusions in many cell types in patients. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1, a member of the transient receptor potential (TRP) cation channel family. Although approximately 70-80% of patients identified are Ashkenazi Jewish, MLIV is a pan-ethnic disorder. Importantly, while MLIV is thought to be a rare disease, its frequency may be greater than currently appreciated, for its common presentation as a cerebral palsy-like encephalopathy can lead to misdiagnosis. Moreover, patients with milder variants are often not recognized as having MLIV. This review provides an update on the ethnic distribution, clinical manifestations, laboratory findings, methods of diagnosis, molecular genetics, differential diagnosis, and treatment of patients with MLIV. An enhanced awareness of the manifestations of this disorder may help to elucidate the true frequency and range of symptoms associated with MLIV, providing insight into the pathogenesis of this multi-system disease.
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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.