Podcasts about dux4

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Best podcasts about dux4

Latest podcast episodes about dux4

PaperPlayer biorxiv cell biology
An in silico FSHD muscle fibre for modelling DUX4 dynamics and predicting the impact of therapy

PaperPlayer biorxiv cell biology

Play Episode Listen Later Dec 12, 2022


Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.12.12.520053v1?rss=1 Authors: Cowley, M. V., Pruller, J., Ganassi, M., Zammit, P. S., Banerji, C. R. S. Abstract: Facioscapulohumeral muscular dystrophy (FSHD) is an incurable myopathy linked to over-expression of the myotoxic transcription factor DUX4. Targeting DUX4 is the leading therapeutic approach, however it is only detectable in 0.1-3.8% of FSHD myonuclei. How rare DUX4 drives FSHD and the optimal anti-DUX4 strategy is unclear. We combine stochastic gene expression with compartment models of cell states, building a simulation of DUX4 expression and consequences in FSHD muscle fibres. Investigating iDUX4 myoblasts, scRNAseq and snRNAseq of FSHD muscle we estimate parameters including DUX4 mRNA degradation, transcription and translation rates and DUX4 target gene activation rates. Our model accurately recreates the distribution of DUX4 and target gene positive cells seen in scRNAseq of FSHD myocytes. Importantly we show DUX4 drives significant cell death despite expression in only 0.8% of live cells. Comparing scRNAseq of unfused FSHD myocytes to snRNAseq of fused FSHD myonuclei, we find evidence of DUX4 protein syncytial diffusion and estimate its rate via genetic algorithms. We package our model into freely available tools, to rapidly investigate consequences of anti-DUX4 therapy. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

MyFSHD
We investigate and help you understand the science behind myostatin inhibition (ACE-083 trial) and berberine supplementation for FSHD; effective in the lab, not so much in you.

MyFSHD

Play Episode Listen Later Apr 27, 2022 68:47


Drs. Peter and Takako Jones discuss the ACE-083 trial and the basis of myostatin inhibition for FSHD, and go through the data showing that berberine, despite proof-of-concept studies showing it to be an inhibitor of DUX4 expression, is highly unlikely to be an effective treatment for FSHD. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

MyFSHD
The DUX4 story with Dr. Alexandra Belayew

MyFSHD

Play Episode Listen Later Mar 10, 2022 89:18


Dr. Alexandra Belayew from the University of Mons in Belgium and the discoverer of DUX4 sits down with volunteer MyFSHD Ambassador Jenny Hasenjaeger to discuss the discovery of DUX4, the Fulcrum Losmapimod trial, antisense, and a little bit of everything FSHD.

FSHD-LIFE
6. Folge - FSHD Erklärt

FSHD-LIFE

Play Episode Listen Later Dec 13, 2018 40:34


Wie funktioniert FSHD? In dieser Folge erklären wir euch die Mechanismen von FSHD im Detail. Was ist DUX4 und wie zerstört es die Muskeln? Was sind Gene und Chromosomen? Wo ist der Unterschied zwischen FSHD 1 und FSHD 2?

FSHD-LIFE
6. Folge - FSHD Erklärt

FSHD-LIFE

Play Episode Listen Later Dec 13, 2018


Wie funktioniert FSHD? In dieser Folge erklären wir euch die Mechanismen von FSHD im Detail. Was ist DUX4 und wie zerstört es die Muskeln? Was sind Gene und Chromosomen? Wo ist der Unterschied zwischen FSHD 1 und FSHD 2? Folge direkt herunterladen

Medizin - Open Access LMU - Teil 21/22
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors

Medizin - Open Access LMU - Teil 21/22

Play Episode Listen Later Jan 1, 2013


Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening of the D4Z4 array leads to aberrant expression of double homeobox protein 4 (DUX4) and causes FSHD. In addition, misregulation of microRNAs (miRNAs) has been reported in muscular dystrophies including FSHD. In this study, we identified a miRNA that is differentially expressed in FSHD myoblasts and investigated its function. Methods: To identify misregulated miRNAs and their potential targets in FSHD myoblasts, we performed expression profiling of both miRNA and mRNA using TaqMan Human MicroRNA Arrays and Affymetrix Human Genome U133A plus 2.0 microarrays, respectively. In addition, we over-expressed miR-411 in C2C12 cells to determine the effect of miR-411 on myogenic markers. Results: Using miRNA and mRNA expression profiling, we identified 8 miRNAs and 1,502 transcripts that were differentially expressed in FSHD myoblasts during cell proliferation. One of the 8 differentially expressed miRNAs, miR-411, was validated by quantitative RT-PCR in both primary (2.1 fold, p

This Month in Muscular Dystrophy
Dr. Scott Harper Discusses DUX4 as a Potential Candidate Gene for Facioscapulohumeral Muscular Dystrophy

This Month in Muscular Dystrophy

Play Episode Listen Later Feb 14, 2011 22:11


Guest: Scott Harper, PhD, Nationwide Children's Hospital Access an abstract of this Month's Featured Research Article: DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2010 Oct 28. [Epub ahead of print]

This Month in Muscular Dystrophy
Dr. Scott Harper Discusses DUX4 as a Potential Candidate Gene for Facioscapulohumeral Muscular Dystrophy

This Month in Muscular Dystrophy

Play Episode Listen Later Feb 14, 2011 22:11


Guest: Scott Harper, PhD, Nationwide Children's Hospital Access an abstract of this Month's Featured Research Article: DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2010 Oct 28. [Epub ahead of print]