A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies (Q64066318)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30895940%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

title

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies (English)

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30 April 2020

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Cecilia Jimenez-Mallebrera

21

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Eric Hanssen

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Shireen R Lamandé

31

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Haiyan Zhou

10

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Daniel G. MacArthur

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Daniel G MacArthur

32

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Steve D Wilton

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Steve D Wilton

30

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Francesco Muntoni

34

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Francesco Muntoni

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30 April 2020

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Véronique Bolduc

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Herimela Solomon-Degefa

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Apurva Sarathy

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Sandra Donkervoort

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Ying Hu

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Katherine Sizov

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Matthew Nalls

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Sara Aguti

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Monkol Lek

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Taru Tukiainen

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Oded Regev

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Dina Marek-Yagel

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Yan Li

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Corine Gartioux

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Kamel Mamchaoui

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Valérie Allamand

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Francesca Gualandi

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Alessandra Ferlini

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A Reghan Foley

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Grace S Chen

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COL6A1 Intron 11 Study Group

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Carsten G Bönnemann

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11 June 2022

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New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

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siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

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

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10.1172/JCI.INSIGHT.124403

Identifiers

DOI

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30 April 2020

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30 April 2020

PubMed publication ID

30895940

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