Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Translation01:31

Translation

142.7K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.7K
Ribosome Profiling02:24

Ribosome Profiling

3.6K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
3.6K
Disorders of Hemostasis01:24

Disorders of Hemostasis

1.0K
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
1.0K
Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

5.9K
DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
5.9K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.6K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.6K
Transcriptional Regulation: Riboswitches01:23

Transcriptional Regulation: Riboswitches

71
Riboswitches are RNA elements that regulate gene expression by altering their secondary structures in response to specific effector molecules. These elements, located in the leader regions of certain mRNAs, act as transcriptional regulators by toggling between alternative conformations to control downstream gene expression. Riboswitch-mediated regulation is a precise mechanism for modulating biosynthetic pathways, as exemplified by the riboflavin biosynthesis pathway in Bacillus...
71

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Expression of Apolipoprotein L1 Risk Variants at the Plasma Membrane and Haplotype-Dependent Cytotoxicity.

Journal of the American Society of Nephrology : JASN·2026
Same author

Reduced platelet formation associated with serine metabolic dysregulation in integrin αIIbβ3-deficient megakaryocytes.

Blood·2026
Same author

Real‑World Clinical Characterization of Major Depressive Disorder and Treatment‑Resistant Depression Supported by Natural Language Processing: Multicenter Observational Study From the MOOD Project.

Interactive journal of medical research·2026
Same author

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Nature genetics·2026
Same author

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Nature genetics·2026
Same author

Prothrombotic PROC variant rebalancing hemostasis in severe hemophilia A with attenuated bleeding risk.

Journal of thrombosis and haemostasis : JTH·2026

Related Experiment Video

Updated: Aug 10, 2025

Polysome Profiling in Leishmania, Human Cells and Mouse Testis
14:32

Polysome Profiling in Leishmania, Human Cells and Mouse Testis

Published on: April 8, 2018

18.2K

Ribosome dysfunction underlies SLFN14-related thrombocytopenia.

Fabienne Ver Donck1, Kato Ramaekers1, Chantal Thys1

  • 1Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

Blood
|February 15, 2023
PubMed
Summary

Pathogenic variants in SLFN14 cause inherited thrombocytopenia by impairing platelet formation and function. This study reveals dysregulated mTORC1 signaling and ribosomal biogenesis as the core disease mechanism in SLFN14-related thrombocytopenia.

More Related Videos

RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells
18:30

RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells

Published on: February 13, 2013

22.0K
Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

6.1K

Related Experiment Videos

Last Updated: Aug 10, 2025

Polysome Profiling in Leishmania, Human Cells and Mouse Testis
14:32

Polysome Profiling in Leishmania, Human Cells and Mouse Testis

Published on: April 8, 2018

18.2K
RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells
18:30

RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells

Published on: February 13, 2013

22.0K
Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

6.1K

Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Pathogenic variants in SLFN14 cause inherited thrombocytopenia (TP), characterized by impaired platelet aggregation and bleeding.
  • The precise role of SLFN14 in megakaryocyte (MK) and platelet biology was previously unknown.

Purpose of the Study:

  • To model SLFN14-related TP in an immortalized MK cell line (imMKCL).
  • To characterize the platelet transcriptome in patients with the SLFN14 K219N variant.

Main Methods:

  • Generated heterozygous and homozygous SLFN14 K219N imMKCL.
  • Analyzed proplatelet formation, mitochondrial organization, and rRNA degradation in MKs and platelets.
  • Performed RNA sequencing on platelets from patients and controls.
  • Investigated the role of mammalian target of rapamycin complex 1 (mTORC1) signaling.

Main Results:

  • SLFN14-defective MKs and platelets exhibit defects in proplatelet formation, mitochondrial organization, and rRNA degradation.
  • Platelet transcriptomes showed significant upregulation of ribosomal protein genes (RPGs), particularly mitochondrial RPGs.
  • Upregulation of RPGs is linked to increased mTORC1 signaling, suggesting a compensatory response to rRNA degradation.
  • mTORC1 inhibition exacerbated rRNA degradation in SLFN14 K219N MKs.

Conclusions:

  • Dysregulation of mTORC1-coordinated ribosomal biogenesis is the underlying mechanism of SLFN14-related TP.
  • SLFN14 deficiency leads to rRNA degradation and compensatory upregulation of RPGs via mTORC1 signaling.