Results 121 to 130 of about 49,802 (297)

Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice [PDF]

, 2012
In Duchenne muscular dystrophy, the exon-skipping approach has obtained proof of concept in animal models, myogenic cell cultures, and following local and systemic administration in Duchenne patients.
BASSI, Elena, Bonaldo P., Braghetta P, FABRIS, Marina, FALZARANO, Maria Sofia, FERLINI, Alessandra, GUALANDI, Francesca, Laus M., MARCHESI, Elena, MERLINI, Luciano, PERRONE, Daniela, RIMESSI, Paola, Sabatelli P., Sparnacci K., Vattemi G.   +14 more
core   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen, Frank Rigo, Haico van Attikum, Willeke M.C. van Roon-Mom   +3 more
doaj   +1 more source

A computational tool to optimize clinical trial parameter selection in Duchenne muscular dystrophy: A practical guide and case studies

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Duchenne muscular dystrophy (DMD), a rare pediatric disease, presents numerous challenges when designing clinical trials, mainly due to the scarcity of available trial participants and the heterogeneity of disease progression. A quantitative clinical trial simulator (CTS) has been developed based on previously published five disease ...
Jordan Wilk, Varun Aggarwal, Mike Pauley, Diane Corey, Daniela J. Conrado, Karthik Lingineni, Juan Francisco Morales, Deok Yong Yoon, Yi Zhang, Zihan Cui, Jackson Burton, Jane Larkindale, Shu Chin Ma, Collin Hovinga, Terina Martinez, Klaus Romero, Ramona Belfiore‐Oshan, Sarah Kim, the Duchenne Regulatory Science Consortium (D‐RSC) and the CINRG DNHS investigators   +18 more
wiley   +1 more source

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Trans‐generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy

EMBO Molecular Medicine, 2020
Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools.
Julie Martone, Michela Lisi, Francesco Castagnetti, Alessandro Rosa, Valerio Di Carlo, Enrique Blanco, Adriano Setti, Davide Mariani, Alessio Colantoni, Tiziana Santini, Lucia Perone, Luciano Di Croce, Irene Bozzoni   +12 more
doaj   +1 more source

Genome wide comparative analysis of the effects of PRMT5 and PRMT4/CARM1 arginine methyltransferases on the Arabidopsis thaliana transcriptome [PDF]

, 2015
BACKGROUND: Methylation at arginine residues (R) is an important post-translational modification that regulates a myriad of essential cellular processes in eukaryotes, such as transcriptional regulation, RNA processing, signal transduction and DNA repair.
Hernando, Carlos Esteban, Mancini, Estefania, Sanchez, Sabrina Elena, Yanovsky, Marcelo Javier   +3 more
core   +1 more source

Modeling and Simulation Identifies Endocytosis Uptake Rate and Fraction Unbound as Important Predictors of Oligonucleotide Pharmacokinetics

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Therapeutic oligonucleotides (TOs) represent an emerging modality, which offers a promising alternative treatment option, particularly for intracellular targets. The two types of TOs, antisense oligonucleotides (ASO) and small interfering RNAs (siRNAs), distribute highly into tissues, especially into the liver and the kidneys.
Felix Stader, Abdallah Derbalah, Adriana Zyla, Cong Liu, Iain Gardner, Armin Sepp   +5 more
wiley   +1 more source

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]

, 1987
Joshua Marvit, Anthony G. DiLella, Kelly A. Brayton, Fred D. Ledley, Kathryn Robson, S.L.C. Woo   +5 more
openalex   +1 more source