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Related Concept Videos

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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ATP Synthase: Mechanism01:48

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In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
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Regulation of Nuclear Protein Sorting01:45

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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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Directionality of Nuclear Transport01:42

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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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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.
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Nuclear Localization Signals and Import01:46

Nuclear Localization Signals and Import

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Proteins targeted to the nucleus carry short stretches of amino acid sequences called the nuclear localization signal or NLS. Classical nuclear localization signals are of two types: monopartite and bipartite NLS. Monopartite classical NLS (cNLS) consists of a single cluster of 4-8 amino acids. Bipartite cNLS consists of two clusters of  2-3 amino acids and a 9-12 residue long proline-rich linker bridging the two clusters. Signal clusters are rich in positively charged amino acids such as...
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Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
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Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

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TorsinA dysfunction causes persistent neuronal nuclear pore defects.

Samuel S Pappas1, Chun-Chi Liang1, Sumin Kim2

  • 1Department of Neurology.

Human Molecular Genetics
|November 30, 2017
PubMed
Summary
This summary is machine-generated.

TorsinA deficiency causes nuclear pore complex (NPC) defects during brain development, persisting into adulthood and potentially contributing to childhood-onset dystonia.

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Area of Science:

  • Neuroscience
  • Cell Biology
  • Developmental Biology

Background:

  • Deciphering neurodevelopmental disease pathophysiology requires identifying persistent abnormalities during CNS maturation.
  • Childhood-onset dystonia linked to torsinA mutations presents a challenge in understanding long-term brain dysfunction.

Purpose of the Study:

  • To investigate the persistent effects of torsinA deficiency on neuronal structure and function during CNS maturation.
  • To determine the role of torsinA in nuclear pore complex (NPC) biogenesis and its implication in dystonia.

Main Methods:

  • Analysis of torsinA null neurons during postnatal CNS maturation.
  • Examination of nuclear envelope (NE) and nuclear pore complex (NPC) formation and localization.
  • Investigating the role of SUN1 in NPC biogenesis in torsinA deficient neurons.

Main Results:

  • TorsinA null neurons exhibit transient NE malformations during development.
  • Mislocalized and dysfunctional NPCs lacking NUP358 develop in torsinA null neurons during maturation.
  • While SUN1 abnormalities resolve, persistent NPC defects are observed in mature torsinA null neurons.

Conclusions:

  • TorsinA is crucial for proper NPC biogenesis during neuronal maturation.
  • Persistent NPC dysfunction in torsinA null neurons may underlie the pathophysiology of dystonia.