Results 31 to 40 of about 9,445 (236)

Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy

Frontiers in Physiology, 2020
BackgroundSarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD ...
Kathryn A. Vera, Kathryn A. Vera, Mary McConville, Michael Kyba, Manda L. Keller-Ross, Manda L. Keller-Ross   +5 more
doaj   +1 more source

The FSHD muscle–blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy

Brain Communications, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable skeletal myopathy. Clinical trials for FSHD are hindered by heterogeneous biomarkers poorly associated with clinical severity, requiring invasive muscle biopsy. Macroscopically, FSHD
C. Banerji, A. Greco, L. Joosten, B. V. van Engelen, P. Zammit   +4 more
semanticscholar   +1 more source

Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor DUX4, which is linked to oxidative stress, a condition especially detrimental ...
Philipp Heher, Massimo Ganassi, Adelheid Weidinger, Elise N. Engquist, Johanna Pruller, Thuy Hang Nguyen, Alexandra Tassin, Anne-Emilie Declèves, Kamel Mamchaoui, Christopher R.S. Banerji, Johannes Grillari, Andrey V. Kozlov, Peter S. Zammit   +12 more
doaj   +1 more source

snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis

Human Molecular Genetics, 2023
The sporadic nature of DUX4 expression in FSHD muscle challenges comparative transcriptome analyses between FSHD and control samples. A variety of DUX4 and FSHD-associated transcriptional changes have been identified, but bulk RNA-seq strategies prohibit
Dongxu Zheng, Annelotte P. Wondergem, S. Kloet, I. Willemsen, J. Balog, S. Tapscott, A. Mahfouz, Anita van den Heuvel, S. M. van der Maarel   +8 more
semanticscholar   +1 more source

The FSHD jigsaw: are we placing the tiles in the right position?

Current Opinion in Neurology, 2023
Purpose of review Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies, involving over 870,000 people worldwide and over 20 FSHD national registries.
Valentina Salsi, G. Vattemi, R. Tupler
semanticscholar   +1 more source

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD ...
Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse   +14 more
doaj   +1 more source

Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD.

Human Molecular Genetics, 2023
Human DUX4 and its mouse ortholog Dux are normally expressed in the early embryo-the 4-cell or 2-cell cleavage stage embryo, respectively-and activate a portion of the first wave of zygotic gene expression. DUX4 is epigenetically suppressed in nearly all
Yee Nip, S. R. Bennett, Andrew A. Smith, T. Jones, Peter L Jones, S. Tapscott   +5 more
semanticscholar   +1 more source

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

Scientific Reports, 2022
With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important.
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San León Granado, Arend Heerschap, Benno Küsters, Stephen J. Tapscott, Nicol C. Voermans, Baziel G. M. van Engelen, Silvère M. van der Maarel   +10 more
doaj   +1 more source

Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review

Cureus, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. This disease presents as a slowly progressive asymmetric muscle weakness that involves the facial, scapular, and upper arm muscles mainly. Currently, there
Alex S. Aguirre, Olga M Astudillo Moncayo, Johanna Mosquera, Veronica E Muyolema Arce, Camila Gallegos, J. Ortíz, Andres F Andrade, Sebastian Oña, Maja Buj, M.D.   +8 more
semanticscholar   +1 more source

FSHD myotubes with different phenotypes exhibit distinct proteomes. [PDF]

PLoS ONE, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder linked to a contraction of the D4Z4 repeat array in the 4q35 subtelomeric region.
Alexandra Tassin, Baptiste Leroy, Dalila Laoudj-Chenivesse, Armelle Wauters, Céline Vanderplanck, Marie-Catherine Le Bihan, Frédérique Coppée, Ruddy Wattiez, Alexandra Belayew   +8 more
doaj   +1 more source