ArticleNature communications2019
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
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Who cites it
37 citing papers in PubMed, 50 citations in OpenAlex.
- Lipid Droplet-Localized Spindle Apparatus Coiled-Coil Protein 1 Regulates Lipid Droplet Distribution.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Nuclear envelope and chromatin choreography direct cellular differentiation.Nucleus (Austin, Tex.) · 2025Review
- TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.Parkinsonism & related disorders · 2025Article
- Role of Nuclear Envelope Proteins in the Structure and Function of the Neuromuscular Junction: Focus on Subsynaptic Nuclei.Sub-cellular biochemistry · 2025Review
- LAP1 Interactome Profiling Provides New Insights into LAP1's Physiological Functions.International journal of molecular sciences · 2024Article
- Quantitative proteome analysis of LAP1-deficient human fibroblasts: A pilot approach for predicting the signaling pathways deregulated in LAP1-associated diseases.Biochemistry and biophysics reports · 2024Article
- Article
- Review
- Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes.The Journal of membrane biology · 2023Review
- Nuclear mechanosignaling in striated muscle diseases.Frontiers in physiology · 2023Review
- DYT-Frontiers in neuroscience · 2023Review
- Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts.International journal of molecular sciences · 2022Article
- Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities.Nature cell biology · 2022Article
- Hepatocytes Deficient in Nuclear Envelope Protein Lamina-associated Polypeptide 1 are an Ideal Mammalian System to Study Intranuclear Lipid Droplets.Journal of lipid research · 2022Article
- Molecular Pathology of Laminopathies.Annual review of pathology · 2022Review
- Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts.International journal of molecular sciences · 2022Article
- 3D Single Molecule Super-Resolution Microscopy of Whole Nuclear Lamina.Frontiers in chemistry · 2022Article
- The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.Frontiers in cell and developmental biology · 2022Review
- High-Resolution Imaging and Analysis of Individual Nuclear Pore Complexes.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. All the patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C. Patient-derived fibroblasts exhibit changes in nuclear envelope morphology and large nuclear-spanning channels containing trapped cytoplasmic organelles. Decreased and inefficient cellular motility is also observed in these fibroblasts. Our study describes the complete absence of both major human LAP1 isoforms, underscoring their crucial role in early development and organogenesis. LAP1-associated defects may thus comprise a broad clinical spectrum depending on the availability of both isoforms in the nuclear envelope throughout life.
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