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Related Concept Videos

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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TiME for TMEM106B.

Solène Debaisieux1, Giampietro Schiavo

  • 1Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology University College London, Queen Square, London, WC1N 3BG, UK.

The EMBO Journal
|February 6, 2014
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Summary
This summary is machine-generated.

Genetic variants in TMEM106B are linked to frontotemporal lobar degeneration. This study investigates TMEM106B

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Area of Science:

  • Neuroscience
  • Cell Biology
  • Genetics

Background:

  • TMEM106B variants are a significant genetic risk factor for frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP).
  • TMEM106B's potential involvement in other neurodegenerative diseases like Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS) necessitates understanding its cellular functions.

Purpose of the Study:

  • To elucidate the physiological roles of TMEM106B and its binding partner MAP6.
  • To investigate the involvement of TMEM106B and MAP6 in lysosomal function and transport.

Main Methods:

  • Loss-of-function experiments were employed.
  • Live imaging techniques were utilized.
  • Proteomics analysis was performed.

Main Results:

  • The study identified key physiological roles for TMEM106B.
  • The binding partner MAP6 was characterized in relation to TMEM106B.
  • TMEM106B and MAP6 were shown to be involved in lysosomal transport and function.

Conclusions:

  • TMEM106B plays a crucial role in cellular processes, particularly lysosomal function.
  • Understanding TMEM106B's function is vital for neurodegenerative disease research.
  • The findings provide insights into the molecular mechanisms underlying FTLD-TDP and potentially other related pathologies.