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Full-Text Articles in Molecular Biology

Antisense Oligonucleotides Used To Target The Dux4 Mrna As Therapeutic Approaches In Faciosscapulohumeral Muscular Dystrophy (Fshd), Eugenie Ansseau, Celine Vanderplanck, Armelle Wauters, Scott Q. Harper, Frederique Coppee, Alexandra Belayew Mar 2017

Antisense Oligonucleotides Used To Target The Dux4 Mrna As Therapeutic Approaches In Faciosscapulohumeral Muscular Dystrophy (Fshd), Eugenie Ansseau, Celine Vanderplanck, Armelle Wauters, Scott Q. Harper, Frederique Coppee, Alexandra Belayew

Wellstone Center for FSHD Publications

FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs. The FSHD locus maps to a macrosatellite D4Z4 repeat array on chromosome 4q35. Each D4Z4 unit contains a DUX4 gene; the most distal of which is flanked by a polyadenylation site on FSHD-permissive alleles, which allows for production of stable DUX4 mRNAs. In addition, an open chromatin structure is required for DUX4 gene transcription. FSHD thus results from a gain of function of the toxic DUX4 protein that normally ...


Homologous Transcription Factors Dux4 And Dux4c Associate With Cytoplasmic Proteins During Muscle Differentiation, Eugenie Ansseau, Jocelyn O. Eidahl, Celine Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Celine Hubeau, Cecile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q. Harper, Alexandra Belayew, Frederique Coppee Jan 2016

Homologous Transcription Factors Dux4 And Dux4c Associate With Cytoplasmic Proteins During Muscle Differentiation, Eugenie Ansseau, Jocelyn O. Eidahl, Celine Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Celine Hubeau, Cecile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q. Harper, Alexandra Belayew, Frederique Coppee

Wellstone Center for FSHD Publications

Hundreds of double homeobox (DUX) genes map within 3.3-kb repeated elements dispersed in the human genome and encode DNA-binding proteins. Among these, we identified DUX4, a potent transcription factor that causes facioscapulohumeral muscular dystrophy (FSHD). In the present study, we performed yeast two-hybrid screens and protein co-purifications with HaloTag-DUX fusions or GST-DUX4 pull-down to identify protein partners of DUX4, DUX4c (which is identical to DUX4 except for the end of the carboxyl terminal domain) and DUX1 (which is limited to the double homeodomain). Unexpectedly, we identified and validated (by co-immunoprecipitation, GST pull-down, co-immunofluorescence and in situ Proximal Ligation Assay ...


Stress Granules As Crucibles Of Als Pathogenesis, Yun R. Li, Oliver D. King, James Shorter, Aaron D. Gitler Apr 2013

Stress Granules As Crucibles Of Als Pathogenesis, Yun R. Li, Oliver D. King, James Shorter, Aaron D. Gitler

Wellstone Center for FSHD Publications

Amyotrophic lateral sclerosis (ALS) is a fatal human neurodegenerative disease affecting primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the degenerating motor neurons of ALS patients, and mutations in the genes encoding these proteins cause some forms of ALS. TDP-43 and FUS and several related RNA-binding proteins harbor aggregation-promoting prion-like domains that allow them to rapidly self-associate. This property is critical for the formation and dynamics of cellular ribonucleoprotein granules, the crucibles of RNA metabolism and homeostasis. Recent work connecting TDP-43 and FUS to stress granules has suggested how this cellular pathway, which involves protein aggregation as ...


Establishment Of Clonal Myogenic Cell Lines From Severely Affected Dystrophic Muscles - Cdk4 Maintains The Myogenic Population, Guido Stadler, Jennifer Cj Chen, Kathryn Wagner, Jerome D. Robin, Jerry W. Shay, Charles P. Emerson, Jr., Woodring E. Wright Mar 2011

Establishment Of Clonal Myogenic Cell Lines From Severely Affected Dystrophic Muscles - Cdk4 Maintains The Myogenic Population, Guido Stadler, Jennifer Cj Chen, Kathryn Wagner, Jerome D. Robin, Jerry W. Shay, Charles P. Emerson, Jr., Woodring E. Wright

Wellstone Center for FSHD Publications

BACKGROUND: A hallmark of muscular dystrophies is the replacement of muscle by connective tissue. Muscle biopsies from patients severely affected with facioscapulohumeral muscular dystrophy (FSHD) may contain few myogenic cells. Because the chromosomal contraction at 4q35 linked to FSHD is thought to cause a defect within myogenic cells, it is important to study this particular cell type, rather than the fibroblasts and adipocytes of the endomysial fibrosis, to understand the mechanism leading to myopathy.

RESULTS: We present a protocol to establish clonal myogenic cell lines from even severely dystrophic muscle that has been replaced mostly by fat, using overexpression of ...


Transcriptional Regulation Differs In Affected Facioscapulohumeral Muscular Dystrophy Patients Compared To Asymptomatic Related Carriers, Patricia Arashiro, Iris Eisenberg, Alvin T. Kho, Antonia M. P. Cerqueira, Marta Canovas, Helga C. A. Silva, Rita C. M. Pavanello, Sergio Verjovski-Almeida, Louis M. Kunkel, Mayana Zatz Apr 2009

Transcriptional Regulation Differs In Affected Facioscapulohumeral Muscular Dystrophy Patients Compared To Asymptomatic Related Carriers, Patricia Arashiro, Iris Eisenberg, Alvin T. Kho, Antonia M. P. Cerqueira, Marta Canovas, Helga C. A. Silva, Rita C. M. Pavanello, Sergio Verjovski-Almeida, Louis M. Kunkel, Mayana Zatz

Wellstone Center for FSHD Publications

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35. FSHD is characterized by a wide clinical inter- and intrafamilial variability, ranging from wheelchair-bound patients to asymptomatic carriers. Our study is unique in comparing the gene expression profiles from related affected, asymptomatic carrier, and control individuals. Our results suggest that the expression of genes on chromosome 4q is altered in affected and asymptomatic individuals. Remarkably, the changes seen in asymptomatic samples are largely in products of genes encoding several chemokines, whereas the changes seen in affected samples ...