Cargando…

Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis

Oculopharyngeal muscular dystrophy (OPMD), a late-onset disorder characterized by progressive degeneration of specific muscles, results from the extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). While the roles of PABPN1 in nuclear polyadenylation and regulation of alte...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chartier, Aymeric, Klein, Pierre, Pierson, Stéphanie, Barbezier, Nicolas, Gidaro, Teresa, Casas, François, Carberry, Steven, Dowling, Paul, Maynadier, Laurie, Bellec, Maëlle, Oloko, Martine, Jardel, Claude, Moritz, Bodo, Dickson, George, Mouly, Vincent, Ohlendieck, Kay, Butler-Browne, Gillian, Trollet, Capucine, Simonelig, Martine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376527/ https://www.ncbi.nlm.nih.gov/pubmed/25816335 http://dx.doi.org/10.1371/journal.pgen.1005092

Ejemplares similares

Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy
por: Ribot, Cécile, et al.
Publicado: (2022)

Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy
por: Barbezier, Nicolas, et al.
Publicado: (2011)

The small compound Icerguastat reduces muscle defects in oculopharyngeal muscular dystrophy through the PERK pathway of the unfolded protein response
por: Naït-Saïdi, Rima, et al.
Publicado: (2023)

Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)
por: Harish, Pradeep, et al.
Publicado: (2019)

Aubergine and piRNAs promote germline stem cell self‐renewal by repressing the proto‐oncogene Cbl
por: Rojas‐Ríos, Patricia, et al.
Publicado: (2017)

PABPN1 gene therapy for oculopharyngeal muscular dystrophy
por: Malerba, A., et al.
Publicado: (2017)

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
por: Richard, Pascale, et al.
Publicado: (2017)

Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing
por: Klein, Pierre, et al.
Publicado: (2016)

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
por: Raz, Vered, et al.
Publicado: (2013)

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling
por: Richard, Pascale, et al.
Publicado: (2015)

BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy
por: Strings-Ufombah, Vanessa, et al.
Publicado: (2021)

Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy
por: Roth, Fanny, et al.
Publicado: (2022)

The CCR4 Deadenylase Acts with Nanos and Pumilio in the Fine-Tuning of Mei-P26 Expression to Promote Germline Stem Cell Self-Renewal
por: Joly, Willy, et al.
Publicado: (2013)

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients
por: Anvar, Seyed Yahya, et al.
Publicado: (2011)

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report()
por: Maeda, Marilia Yuri, et al.
Publicado: (2015)

piRNAs and Aubergine cooperate with Wispy poly(A) polymerase to stabilize mRNAs in the germ plasm
por: Dufourt, Jérémy, et al.
Publicado: (2017)

RNF219 regulates CCR4-NOT function in mRNA translation and deadenylation
por: Guénolé, Aude, et al.
Publicado: (2022)

Combined Therapies for Duchenne Muscular Dystrophy to Optimize Treatment Efficacy
por: Cordova, Gonzalo, et al.
Publicado: (2018)

Muscle fibro-adipogenic progenitors from a single-cell perspective: Focus on their “virtual” secretome
por: Negroni, Elisa, et al.
Publicado: (2022)

Recent Progress in Oculopharyngeal Muscular Dystrophy
por: Yamashita, Satoshi
Publicado: (2021)

Maternal-to-zygotic transition: soma versus germline
por: Simonelig, Martine
Publicado: (2012)

Oculopharyngeal Muscular Dystrophy as a Paradigm for Muscle Aging
por: Raz, Yotam, et al.
Publicado: (2014)

Oculopharyngeal muscular dystrophy as a rare cause of dysphagia
por: Werling, Sarah, et al.
Publicado: (2015)

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy
por: Tankink, Maurits, et al.
Publicado: (2022)

A negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis
por: Bensalah, Mona, et al.
Publicado: (2022)

Combined methods to evaluate human cells in muscle xenografts
por: Bensalah, Mona, et al.
Publicado: (2019)

Inhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) With Established Disease
por: Harish, Pradeep, et al.
Publicado: (2020)

Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
por: Chen, Andy Wei-Ge, et al.
Publicado: (2018)

Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy
por: Kroon, Rosemarie H.M.J.M., et al.
Publicado: (2020)

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy
por: Kroon, Rosemarie H. M. J. M., et al.
Publicado: (2022)

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
por: Lin, Feng, et al.
Publicado: (2023)

Deadenylation of mRNA by the CCR4–NOT complex in Drosophila: molecular and developmental aspects
por: Temme, Claudia, et al.
Publicado: (2014)

An Oculopharyngeal Subtype of Guillain-Barré Syndrome Sparing the Trochlear and Abducens Nerves
por: Arakawa, Masafumi, et al.
Publicado: (2020)

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy
por: Raz, Vered, et al.
Publicado: (2020)

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement
por: Abu-Baker, Aida, et al.
Publicado: (2019)

Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature
por: Aryani, Omid, et al.
Publicado: (2017)

The PIWI protein Aubergine recruits eIF3 to activate translation in the germ plasm
por: Ramat, Anne, et al.
Publicado: (2020)

Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organization
por: Ghahramani Seno, Mohammad M, et al.
Publicado: (2010)

Translational repression of the Drosophila nanos mRNA involves the RNA helicase Belle and RNA coating by Me31B and Trailer hitch
por: Götze, Michael, et al.
Publicado: (2017)

Proteomics reveals drastic increase of extracellular matrix proteins collagen and dermatopontin in the aged mdx diaphragm model of Duchenne muscular dystrophy
por: CARBERRY, STEVEN, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_pkjiiacvsc2l7d4ge355lpo4qi