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Related Concept Videos

Nuclear Export01:42

Nuclear Export

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The nucleus restricts several proteins within and allows others to pass. The restricted proteins possess a nuclear retention sequence or NRS, anchoring them to the nuclear lamins and preventing their transport to the cytosol. The non-restricted proteins, after their synthesis, are transported to their site of action, such as the cytosol or other organelles, with the help of nuclear export signals or NES.
NES are of three types- the canonical 10-residue long leucine-rich signal and other...
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Nuclear Protein Sorting01:34

Nuclear Protein Sorting

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Nuclear protein sorting is the selective trafficking of histones, polymerases, gene regulatory proteins into the nucleus and exporting RNAs and ribosomes to the cytosol. It is a tightly controlled process that regulates gene expression within a cell.
Proteins targeted to the nucleus carry nuclear localization signals or NLS recognized by import receptors in the cytosol. Similarly, proteins with nuclear export signals are recognized by export receptors. Import and export receptors are...
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Regulation of Nuclear Protein Sorting01:45

Regulation of Nuclear Protein Sorting

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Nuclear protein sorting regulates nucleus composition and gene expression, crucial for determining the fate of a eukaryotic cell. Hence, the entry and exit of molecules across the nuclear envelope is a tightly controlled process. Nuclear protein sorting can be inhibited by one of the following ways: 1) masking cargo signal sequences, 2) modifying the nuclear receptor's affinity for cargo, 3) controlling the nuclear pore size, 4) retaining the cargo during its transit to the cytosol or the...
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Nuclear Export of mRNA02:31

Nuclear Export of mRNA

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Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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Directionality of Nuclear Transport01:42

Directionality of Nuclear Transport

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Ras-related nuclear protein or Ran is a small G protein that cycles between its GTP and GDP bound states. Ran specific regulators, a Ran GTPase Activating Protein or RanGAP present in the cytosol and a Ran guanine nucleotide exchange factor or RanGEF present inside the nucleus regulate GTP/GDP exchange. A high concentration of GTP inside the cells, in addition to this asymmetric distribution of  Ran-specific regulators, leads to a higher RanGTP concentration inside the nucleus. This...
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Regulation of the Unfolded Protein Response01:31

Regulation of the Unfolded Protein Response

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Inositol-requiring kinase one or IRE1 is the most conserved eukaryotic unfolded protein response (UPR) receptor. It is a type I transmembrane protein kinase receptor with a distinctive site-specific RNase activity. As the binding mechanics of the misfolded proteins with the N-terminal domain of IRE-1 are unclear, three binding models — direct, indirect, and allosteric -- are proposed for receptor activation. Nevertheless, it is known that once a misfolded protein associates with IRE1, it...
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Related Experiment Video

Updated: Aug 1, 2025

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
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TOR1AIP1-Associated Nuclear Envelopathies.

Laurane Mackels1,2, Xincheng Liu1, Gisèle Bonne3

  • 1MDUK Oxford Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK.

International Journal of Molecular Sciences
|April 28, 2023
PubMed
Summary

Mutations in the TOR1AIP1 gene, encoding the nuclear envelope protein LAP1, cause severe inherited disorders like muscular dystrophy and progeroid features. Understanding LAP1

Keywords:
LAP1LAP1BLAP1CTOR1AIP1clinical spectruminner nuclear membranelamina-associated polypeptide 1Blamina-associated polypeptide 1Clamina-associated protein 1mutations

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Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • The nuclear envelope protein LAP1, encoded by TOR1AIP1, is crucial for cellular function.
  • TOR1AIP1 mutations are associated with a spectrum of severe human diseases, including muscular dystrophy and progeroid syndromes.

Purpose of the Study:

  • To review the known interactions and functions of LAP1 in human health.
  • To summarize TOR1AIP1 mutations and associated clinical and pathological phenotypes.
  • To identify future research challenges for therapeutic development.

Main Methods:

  • Literature review of existing studies on TOR1AIP1 and LAP1.
  • Synthesis of data on protein interactions and cellular functions.
  • Compilation of clinical and genetic information from reported cases.

Main Results:

  • LAP1 interacts with various cellular components, influencing nuclear envelope integrity and function.
  • TOR1AIP1 mutations lead to a range of severe, often early-lethal, genetic disorders.
  • The clinical presentations are diverse, encompassing neuromuscular and systemic diseases.

Conclusions:

  • A comprehensive understanding of LAP1's role and TOR1AIP1-associated diseases is essential for advancing therapeutic strategies.
  • Further research is needed to address current knowledge gaps and facilitate the development of treatments for these rare genetic disorders.