143. Allele-Specific Silencing of a Dominant-Negative Mutation Using siRNA or LNA Antisense Oligonucleotides Alleviates the Phenotype in a Cellular Model of Ullrich Congenital Muscular Dystrophy

Dominant Negative ◽

Cellular Model ◽

Dominant Negative Mutation ◽

Ullrich Congenital Muscular Dystrophy ◽

Allele Specific

P.1.10 siRNA-mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrich Congenital muscular dystrophy

10.1016/j.nmd.2013.06.394 ◽

2013 ◽

Vol 23 (9-10) ◽

pp. 744

Author(s):

V. Bolduc ◽

Y. Zou ◽

C.G. Bonnemann

Keyword(s):

Muscular Dystrophy ◽

Dominant Negative ◽

Ullrich Congenital Muscular Dystrophy ◽

Allele Specific

Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy

Methods in Molecular Biology - Gapmers ◽

10.1007/978-1-0716-0771-8_16 ◽

2020 ◽

pp. 221-230

Author(s):

Sara Aguti ◽

Elena Marrosu ◽

Francesco Muntoni ◽

Haiyan Zhou

Keyword(s):

Muscular Dystrophy ◽

Antisense Oligonucleotides ◽

Mutant Allele ◽

150. Further Development of an Allele-Specific Gene Silencing Strategy to Correct a Dominant-Negative Mutation Causing Collagen VI-Related Muscular Dystrophy

Molecular Therapy ◽

10.1016/s1525-0016(16)32959-8 ◽

2016 ◽

Vol 24 ◽

pp. S60

Author(s):

Véronique Bolduc ◽

Katherine Sizov ◽

Apurva Sarathy ◽

Yaqun Zou ◽

Carsten G. Bönnemann

Keyword(s):

Muscular Dystrophy ◽

Gene Silencing ◽

Dominant Negative ◽

Specific Gene ◽

Collagen Vi ◽

Dominant Negative Mutation ◽

Allele Specific ◽

Further Development

Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene in dominant Ullrich congenital muscular dystrophy

10.1016/j.nmd.2017.06.059 ◽

2017 ◽

Vol 27 ◽

pp. S107

Author(s):

H. Zhou ◽

E. Marrosu ◽

P. Ala ◽

F. Muntoni

Keyword(s):

Muscular Dystrophy ◽

Antisense Oligonucleotides ◽

Mutant Allele ◽

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

Molecular Therapy — Nucleic Acids ◽

10.1038/mtna.2014.22 ◽

2014 ◽

Vol 3 ◽

pp. e171 ◽

Cited By ~ 9

Author(s):

Satoru Noguchi ◽

Megumu Ogawa ◽

Genri Kawahara ◽

May Christine Malicdan ◽

Ichizo Nishino

Keyword(s):

Muscular Dystrophy ◽

Gene Silencing ◽

Cellular Function ◽

Specific Gene ◽

Ullrich Congenital Muscular Dystrophy ◽

Allele Specific

COL6A1 related muscular dystrophy in Landseer dogs – a canine model for Ullrich congenital muscular dystrophy

Muscle & Nerve ◽

10.1002/mus.27162 ◽

2020 ◽

Author(s):

Jan Brands ◽

Frank Steffen ◽

Jochen Spennes ◽

Tosso Leeb ◽

Thomas Bilzer

Keyword(s):

Muscular Dystrophy ◽

Canine Model ◽

A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy

10.1016/j.nmd.2017.06.055 ◽

2017 ◽

Vol 27 ◽

pp. S106

Author(s):

A. Reghan Foley ◽

S. Donkervoort ◽

V. Bolduc ◽

Y. Hu ◽

B. Cummings ◽

...

Keyword(s):

Muscular Dystrophy ◽

Distinct Phenotype ◽

Ullrich Congenital Muscular Dystrophy (Ullrich disease)

Encyclopedia of Genetics, Genomics, Proteomics and Informatics ◽

10.1007/978-1-4020-6754-9_17718 ◽

2008 ◽

pp. 2059-2059

Keyword(s):

Muscular Dystrophy ◽

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

Journal of Child Neurology ◽

10.1177/0883073817738466 ◽

2017 ◽

Vol 32 (14) ◽

pp. 1099-1103

Author(s):

Biswaroop Chakrabarty ◽

M. C. Sharma ◽

Sheffali Gulati ◽

Chitra Sarkar

Keyword(s):

Muscular Dystrophy ◽

Observational Study ◽

Skin Biopsy ◽

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

10.1016/j.nmd.2007.06.282 ◽

2007 ◽

Vol 17 (9-10) ◽

pp. 845

Author(s):

P. Richard ◽

C. Ledeuil ◽

C. Gartioux ◽

L. Torrieri ◽

L. Briñas ◽

...

Keyword(s):

Muscular Dystrophy ◽