Results 61 to 70 of about 49,802 (297)

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

Molecular Therapy - Nucleic Acids, 2014
Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
K. Greer, K. Greer, Steve D. Wilton, Steve D. Wilton, Sue Fletcher, Sue Fletcher, Kevin M. Flanigan, Hanns Lochmüller   +7 more
openaire   +4 more sources

The Future of Exon Skipping for Duchenne Muscular Dystrophy

Human Gene Therapy, 2023
Antisense oligonucleotide (ASO)-mediated exon skipping can restore the open reading frame of dystrophin transcripts for Duchenne muscular dystrophy (DMD) patients. This allows production of internally deleted dystrophin proteins as found in the later onset, less severely progressive Becker muscular dystrophy.
openaire   +3 more sources

Exon-skipping advances for Duchenne muscular dystrophy [PDF]

Human Molecular Genetics, 2018
Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aim to restore expression of a shorter but functional dystrophin protein.
Philippine Aupy, Lucía Echevarría, Aurélie Goyenvalle   +2 more
openaire   +3 more sources

A novel protein isoform of the RON tyrosine kinase receptor transforms human pancreatic duct epithelial cells. [PDF]

, 2016
The MST1R gene is overexpressed in pancreatic cancer producing elevated levels of the RON tyrosine kinase receptor protein. While mutations in MST1R are rare, alternative splice variants have been previously reported in epithelial cancers.
Babicky, M, Chakedis, J, French, R, Holman, P, Howard, H, Jaquish, D, Lam, R, Lowy, AM, Miyamoto, J, Mose, E, Walterscheid, Z   +10 more
core   +5 more sources

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Scientific Reports, 2021
Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We
Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, François Boemer   +7 more
doaj   +1 more source

Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping

Molecular Therapy: Methods & Clinical Development, 2021
Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene.
Tabatha R. Simmons, Tatyana A. Vetter, Nianyuan Huang, Adeline Vulin-Chaffiol, Nicolas Wein, Kevin M. Flanigan   +5 more
doaj   +1 more source

Minigenes to Confirm Exon Skipping Mutations

, 2012
Although several bioinformatic tools exist to predict the effect on splicing of a nucleotide change, experimental verification with minigenes is essential for diagnostic purposes, as well as for revealing disease mechanisms and monitoring therapeutic interventions.
Desviat, Lourdes R., Pérez, Belén, Ugarte, Magdalena   +2 more
openaire   +4 more sources

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source