Cargando…

Modeling the ACVR1(R206H) mutation in human skeletal muscle stem cells

Abnormalities in skeletal muscle repair can lead to poor function and complications such as scarring or heterotopic ossification (HO). Here, we use fibrodysplasia ossificans progressiva (FOP), a disease of progressive HO caused by ACVR1(R206H) (Activin receptor type-1 receptor) mutation, to elucidat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barruet, Emilie, Garcia, Steven M, Wu, Jake, Morales, Blanca M, Tamaki, Stanley, Moody, Tania, Pomerantz, Jason H, Hsiao, Edward C
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2021
Materias:	Cell Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691832/ https://www.ncbi.nlm.nih.gov/pubmed/34755602 http://dx.doi.org/10.7554/eLife.66107

Ejemplares similares

MON-710 ACVR1 Activation in Primary and iPS-Derived Human Skeletal Muscle Stem Cells Impairs Myogenic Transcriptional Signature and Function
por: Barruet, Emilie, et al.
Publicado: (2020)

The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling
por: Barruet, Emilie, et al.
Publicado: (2016)

Purification and preservation of satellite cells from human skeletal muscle
por: Striedinger, Katharine, et al.
Publicado: (2021)

Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration
por: Hillege, Michèle MG, et al.
Publicado: (2022)

Heterogeneous levels of delta-like 4 within a multinucleated niche cell maintains muscle stem cell diversity
por: Eliazer, Susan, et al.
Publicado: (2022)

ACVR1-activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans
por: Yu, Xiaobing, et al.
Publicado: (2023)

Functionally heterogeneous human satellite cells identified by single cell RNA sequencing
por: Barruet, Emilie, et al.
Publicado: (2020)

ACVR1(R206H) FOP mutation alters mechanosensing and tissue stiffness during heterotopic ossification
por: Haupt, Julia, et al.
Publicado: (2019)

Loss of transcriptional heterogeneity in aged human muscle stem cells
por: Barruet, Emilie, et al.
Publicado: (2023)

MIR-206 regulates connexin43 expression during skeletal muscle development
por: Anderson, Curtis, et al.
Publicado: (2006)

Pathogenic ACVR1(R206H) activation by Activin A‐induced receptor clustering and autophosphorylation
por: Ramachandran, Anassuya, et al.
Publicado: (2021)

Reconstitution of the complete rupture in musculotendinous junction using skeletal muscle-derived multipotent stem cell sheet-pellets as a “bio-bond”
por: Hashimoto, Hiroyuki, et al.
Publicado: (2016)

Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels
por: Ullrich, Florian, et al.
Publicado: (2019)

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1(R206H) ‐Specific Human Cellular and Zebrafish Models
por: Wentworth, Kelly L., et al.
Publicado: (2022)

AAV-Mediated Targeting of the Activin A-ACVR1(R206H) Signaling in Fibrodysplasia Ossificans Progressiva
por: Yang, Yeon-Suk, et al.
Publicado: (2023)

Patients with ACVR1(R206H) mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
por: Kou, Samuel, et al.
Publicado: (2020)

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination
por: Ramirez-Martinez, Andres, et al.
Publicado: (2017)

Septin7 is indispensable for proper skeletal muscle architecture and function
por: Gönczi, Mónika, et al.
Publicado: (2022)

Transcriptional profiling reveals extraordinary diversity among skeletal muscle tissues
por: Terry, Erin E, et al.
Publicado: (2018)

The skeletal muscle circadian clock regulates titin splicing through RBM20
por: Riley, Lance A, et al.
Publicado: (2022)

Adiponectin receptor agonist AdipoRon improves skeletal muscle function in aged mice
por: Balasubramanian, Priya, et al.
Publicado: (2022)

Requirement of myomaker-mediated stem cell fusion for skeletal muscle hypertrophy
por: Goh, Qingnian, et al.
Publicado: (2017)

Association of lithocholic acid with skeletal muscle hypertrophy through TGR5-IGF-1 and skeletal muscle mass in cultured mouse myotubes, chronic liver disease rats and humans
por: Tamai, Yasuyuki, et al.
Publicado: (2022)

MACF1 controls skeletal muscle function through the microtubule-dependent localization of extra-synaptic myonuclei and mitochondria biogenesis
por: Ghasemizadeh, Alireza, et al.
Publicado: (2021)

In vivo dynamics of skeletal muscle Dystrophin in zebrafish embryos revealed by improved FRAP analysis
por: Bajanca, Fernanda, et al.
Publicado: (2015)

Microtubule-mediated GLUT4 trafficking is disrupted in insulin-resistant skeletal muscle
por: Knudsen, Jonas R, et al.
Publicado: (2023)

The PERK arm of the unfolded protein response regulates satellite cell-mediated skeletal muscle regeneration
por: Xiong, Guangyan, et al.
Publicado: (2017)

SWELL1 regulates skeletal muscle cell size, intracellular signaling, adiposity and glucose metabolism
por: Kumar, Ashutosh, et al.
Publicado: (2020)

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
por: Mansur, Arian, et al.
Publicado: (2023)

Pannexin 1 and Pannexin 3 Channels Regulate Skeletal Muscle Myoblast Proliferation and Differentiation
por: Langlois, Stéphanie, et al.
Publicado: (2014)

TBP/TFIID-dependent activation of MyoD target genes in skeletal muscle cells
por: Malecova, Barbora, et al.
Publicado: (2016)

Inducible depletion of adult skeletal muscle stem cells impairs the regeneration of neuromuscular junctions
por: Liu, Wenxuan, et al.
Publicado: (2015)

TIGAR deficiency enhances skeletal muscle thermogenesis by increasing neuromuscular junction cholinergic signaling
por: Tang, Yan, et al.
Publicado: (2022)

Single-cell analysis of skeletal muscle macrophages reveals age-associated functional subpopulations
por: Krasniewski, Linda K, et al.
Publicado: (2022)

LSD1 defines the fiber type-selective responsiveness to environmental stress in skeletal muscle
por: Araki, Hirotaka, et al.
Publicado: (2023)

Impaired skeletal muscle mitochondrial pyruvate uptake rewires glucose metabolism to drive whole-body leanness
por: Sharma, Arpit, et al.
Publicado: (2019)

MicroRNA-223-3p promotes skeletal muscle regeneration by regulating inflammation in mice
por: Cheng, Naixuan, et al.
Publicado: (2020)

Transverse tubule remodeling enhances Orai1-dependent Ca(2+) entry in skeletal muscle
por: Michelucci, Antonio, et al.
Publicado: (2019)

Regulation of Myostatin on the Growth and Development of Skeletal Muscle
por: Chen, Ming-Ming, et al.
Publicado: (2021)

Immunometabolism of macrophages regulates skeletal muscle regeneration
por: Chen, Yu-Fan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_2l9non8djhd64qvquakgsi9sgo