[HTML][HTML] DUX4 role in normal physiology and in FSHD muscular dystrophy
E Mocciaro, V Runfola, P Ghezzi, M Pannese… - Cells, 2021 - mdpi.com
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4)
has gone from being an obscure entity to being a key factor in important physiological and …
has gone from being an obscure entity to being a key factor in important physiological and …
[HTML][HTML] RNA-binding proteins in the post-transcriptional control of skeletal muscle development, regeneration and disease
DL Shi, R Grifone - Frontiers in Cell and Developmental Biology, 2021 - frontiersin.org
Embryonic myogenesis is a temporally and spatially regulated process that generates
skeletal muscle of the trunk and limbs. During this process, mononucleated myoblasts …
skeletal muscle of the trunk and limbs. During this process, mononucleated myoblasts …
[HTML][HTML] Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic …
P Heher, M Ganassi, A Weidinger, EN Engquist… - Redox biology, 2022 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal
muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor …
muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor …
[HTML][HTML] Update on the molecular aspects and methods underlying the complex architecture of FSHD
V Caputo, D Megalizzi, C Fabrizio, A Termine… - Cells, 2022 - mdpi.com
Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular
dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease …
dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease …
[HTML][HTML] Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies
M Ganassi, F Muntoni, PS Zammit - Experimental Cell Research, 2022 - Elsevier
Muscular dystrophies and congenital myopathies arise from specific genetic mutations
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …
Single-cell RNA sequencing in silent corticotroph tumors confirms impaired POMC processing and provides new insights into their invasive behavior
D Zhang, W Hugo, M Bergsneider… - European journal of …, 2022 - academic.oup.com
Objective Provide insights into the defective POMC processing and invasive behavior in
silent pituitary corticotroph tumors. Design and methods Single-cell RNAseq was used to …
silent pituitary corticotroph tumors. Design and methods Single-cell RNAseq was used to …
[HTML][HTML] The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins
C Claus, M Slavin, E Ansseau, C Lancelot, K Bah… - Skeletal Muscle, 2023 - Springer
Background We have previously demonstrated that double homeobox 4 centromeric
(DUX4C) encoded for a functional DUX4c protein upregulated in dystrophic skeletal …
(DUX4C) encoded for a functional DUX4c protein upregulated in dystrophic skeletal …
[HTML][HTML] Antagonism between DUX4 and DUX4c highlights a pathomechanism operating through β-catenin in facioscapulohumeral muscular dystrophy
M Ganassi, N Figeac, M Reynaud… - Frontiers in cell and …, 2022 - frontiersin.org
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on
chromosome 4q35, and its transcriptome, associate with pathogenesis in …
chromosome 4q35, and its transcriptome, associate with pathogenesis in …
[HTML][HTML] Outcome measures in facioscapulohumeral muscular dystrophy clinical trials
M Ghasemi, CP Emerson Jr, LJ Hayward - Cells, 2022 - mdpi.com
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a
variable age of onset, severity, and progression. While there is still no cure for this disease …
variable age of onset, severity, and progression. While there is still no cure for this disease …
[HTML][HTML] The 2022 On-site Padua Days on Muscle and Mobility Medicine hosts the University of Florida Institute of Myology and the Wellstone Center, March 30-April 3 …
In the autumn of 2021, the 2022 Padua Days of Muscle and Mobility Medicine (PDM3) was
planned to be held from March 30 to April 2, 2022. Despite the fact that Coronavirus COVID …
planned to be held from March 30 to April 2, 2022. Despite the fact that Coronavirus COVID …