Cargando…

Tamoxifen therapy in a murine model of myotubular myopathy

Myotubular myopathy (MTM) is a severe X-linked disease without existing therapies. Here, we show that tamoxifen ameliorates MTM-related histopathological and functional abnormalities in mice, and nearly doubles survival. The beneficial effects of tamoxifen are mediated primarily via estrogen recepto...

Descripción completa

Detalles Bibliográficos
Autores principales:	Maani, Nika, Sabha, Nesrin, Rezai, Kamran, Ramani, Arun, Groom, Linda, Eltayeb, Nadine, Mavandadnejad, Faranak, Pang, Andrea, Russo, Giulia, Brudno, Michael, Haucke, Volker, Dirksen, Robert T., Dowling, James J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242823/ https://www.ncbi.nlm.nih.gov/pubmed/30451841 http://dx.doi.org/10.1038/s41467-018-07057-5

Ejemplares similares

Natural history of a mouse model of X-linked myotubular myopathy
por: Sarikaya, Ege, et al.
Publicado: (2022)

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition
por: Volpatti, Jonathan R., et al.
Publicado: (2022)

Centronuclear (myotubular) myopathy
por: Jungbluth, Heinz, et al.
Publicado: (2008)

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
por: Gayi, Elinam, et al.
Publicado: (2018)

Respiratory care in myotubular myopathy
por: Tan, Hui-leng, et al.
Publicado: (2021)

A natural history study of X-linked myotubular myopathy
por: Amburgey, Kimberly, et al.
Publicado: (2017)

Extensive morphological and immunohistochemical characterization in myotubular myopathy
por: Shichiji, Minobu, et al.
Publicado: (2013)

Arrhythmias in patients with X-linked myotubular myopathy
por: Pons-Espinal, Marina, et al.
Publicado: (2023)

Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model
por: Samsó, Paula, et al.
Publicado: (2022)

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
por: Dowling, James J., et al.
Publicado: (2009)

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
por: Lawlor, Michael W., et al.
Publicado: (2016)

X-linked recessive myotubular myopathy with MTM1 mutations
por: Han, Young-Mi, et al.
Publicado: (2013)

Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy
por: Lloyd, Andrew, et al.
Publicado: (2021)

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
por: Dowling, James J., et al.
Publicado: (2012)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
por: Biancalana, Valérie, et al.
Publicado: (2018)

Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies
por: Snead, E.C.R., et al.
Publicado: (2015)

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances
por: Gómez-Oca, Raquel, et al.
Publicado: (2021)

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
por: Karolczak, Sophie, et al.
Publicado: (2023)

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
por: Graham, Robert J, et al.
Publicado: (2020)

Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte
por: Shieh, Perry B., et al.
Publicado: (2020)

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
por: Al-Hashim, Aqeela, et al.
Publicado: (2017)

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years
por: Werlauff, U., et al.
Publicado: (2015)

Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
por: Lee, Eun Hye, et al.
Publicado: (2013)

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
por: Carstens, Per-Ole, et al.
Publicado: (2019)

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
por: Koch, Catherine, et al.
Publicado: (2020)

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype
por: Souza, Lucas Santos, et al.
Publicado: (2020)

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
por: Tasfaout, Hichem, et al.
Publicado: (2017)

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
por: Barreto-Mota, Ricardo, et al.
Publicado: (2023)

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy
por: Dowling, James J., et al.
Publicado: (2022)

A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study
por: Beggs, Alan H., et al.
Publicado: (2017)

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons: Erratum
Publicado: (2016)

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
por: Gangfuss, Andrea, et al.
Publicado: (2021)

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy
por: Buono, Suzie, et al.
Publicado: (2022)

X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
por: Kopke, Matthew A., et al.
Publicado: (2022)

The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis
por: Derkaczew, Maria, et al.
Publicado: (2023)

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy
por: Nishikawa, Atsuko, et al.
Publicado: (2019)

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
por: Ross, Jacob A., et al.
Publicado: (2020)

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
por: Bosco, Luca, et al.
Publicado: (2022)

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
por: Chausova, Polina, et al.
Publicado: (2023)

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy
por: Espinosa, Karla G., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_lj5u3od49pa2d9ktfvcl8mi04n