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Related Concept Videos

Endoplasmic Reticulum01:39

Endoplasmic Reticulum

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The Endoplasmic Reticulum (ER) in eukaryotic cells is a substantial network of interconnected membranes with diverse functions, from calcium storage to biomolecule synthesis. A primary component of the endomembrane system, the ER manufactures phospholipids critical for membrane function throughout the cell. Additionally, the two distinct regions of the ER specialize in the manufacture of specific lipids and proteins.
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The Endoplasmic Reticulum01:43

The Endoplasmic Reticulum

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The endoplasmic reticulum or ER makes up for more than half of the membranes in a cell and accounts for 10% of total cell volume. It is also the primary protein and lipid synthesis factory for most cell organelles, such as the Golgi apparatus, lysosomes, secretory vesicles, and the plasma membrane. Despite being the most extensive and functionally complex subcellular organelle, ER was the last to be discovered. After years of deliberation, Keith Porter and George Palade in the year 1954,...
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Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

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Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
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Directing Proteins to the Rough Endoplasmic Reticulum01:34

Directing Proteins to the Rough Endoplasmic Reticulum

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The organelle-specific signaling sequences direct proteins synthesized in the cytosol to their final destination like ER, mitochondria, peroxisomes, etc. Some of the proteins directed to ER are then trafficked via vesicles to other organelles within the cell or the extracellular environment through the Golgi complex. For example, the rough ER synthesizes soluble proteins for transportation to the lysosomes or secretion out of the cell. It can also synthesize transmembrane proteins that can...
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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Visualization of Endoplasmic Reticulum Subdomains in Cultured Cells
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A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.

Laura Behrendt1, Ingo Kurth2, Christoph Kaether3

  • 1Leibniz Institut für Alternsforschung-Fritz Lipmann Institut, Beutenbergstr. 11, 07745, Jena, Germany.

Cellular and Molecular Life Sciences : CMLS
|January 23, 2019
PubMed
Summary

The ATL3 Y192C mutation impairs endoplasmic reticulum (ER) structure and function, leading to neurological deficits. This mutation disrupts ER export, autophagy, and axon growth, causing disease symptoms.

Keywords:
AtlastinEndoplasmic reticulumHereditary spastic paraplegiaSecretory transport

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Area of Science:

  • Cell Biology
  • Neuroscience
  • Genetics

Background:

  • Atlastins (ATLs) are GTPases crucial for endoplasmic reticulum (ER) network formation.
  • Mutations in ATL1 and ATL3 are linked to spastic paraplegia and hereditary sensory neuropathy.
  • Understanding the molecular mechanisms of ATL mutations is vital for neurological disease research.

Purpose of the Study:

  • To investigate the functional consequences of the hereditary sensory neuropathy-associated ATL3 Y192C mutation.
  • To elucidate the impact of ATL3 Y192C on ER morphology, function, and cellular pathways.
  • To analyze the effects of ATL3 Y192C in patient-derived cells and neurons.

Main Methods:

  • Analysis of ER network complexity in cells expressing wild-type ATL3 versus ATL3 Y192C.
  • Assessment of ER export rates, autophagy, Golgi structure, and nuclear morphology.
  • Examination of ATL3 Y192C localization and its effect on axon growth in primary neurons.
  • Characterization of patient-derived fibroblasts for ER structure and autophagosome content.

Main Results:

  • The ATL3 Y192C mutation significantly reduces the complexity of the tubular ER network.
  • ATL3 Y192C impairs ER export by decreasing ER exit sites, reduces autophagy, and fragments the Golgi.
  • The mutation causes nuclear malformation and deficits in axon growth in cultured neurons.
  • Patient fibroblasts exhibit reduced ER complexity and fewer autophagosomes.

Conclusions:

  • The disease-causing ATL3 Y192C mutation disrupts ER morphology and impacts multiple ER-related cellular processes.
  • These disruptions in ER homeostasis likely contribute to the pathogenesis of hereditary sensory neuropathy.
  • The findings highlight the critical role of atlastins in maintaining neuronal health and ER function.