CRISPR-induced exon skipping is dependent on premature termination codon mutations
Genome Biology, 2018 In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial.
Tingting Sui +7 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2023 Loss-of-function mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon 13 as a promising treatment paradigm for USH2A-associated RP.
Renske T.W. Schellens +8 more
doaj +1 more source
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
Molecular Therapy: Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier +15 more
doaj +1 more source
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]
, 2016 Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core
Duchenne muscular dystrophy: overview and future challenges Dystrofia = mięśniowa Duchenne’a: przegląd literatury i wyzwania w przyszłości [PDF]
, 2017 Duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. It is inherited in an X-linked recessive fashion.
Basuki, Mudjiani +3 more
core +2 more sources
Elevated nuclear TDP-43 induces constitutive exon skipping
Molecular Neurodegeneration, 2023 AbstractCytoplasmic inclusions and loss of nuclear TDP-43 are key pathological features found in several neurodegenerative disorders, suggesting both gain- and loss-of-function mechanisms of disease. To study gain-of-function, TDP-43 overexpression has been used to generatein vitroandin vivomodel systems.
Rogger P. Carmen-Orozco +13 more
openaire +4 more sources
Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. [PDF]
PLoS ONE, 2010 BACKGROUND: Antisense oligonucleotide-induced exon skipping is a promising approach for treatment of Duchenne muscular dystrophy (DMD). We have systemically administered an antisense phosphorodiamidate morpholino oligomer (PMO) targeting dystrophin exons
Takashi Saito +6 more
doaj +1 more source
Correcting the NLRP3 inflammasome deficiency in macrophages from autoimmune NZB mice with exon skipping antisense oligonucleotides [PDF]
, 2016 Inflammasomes are molecular complexes activated by infection and cellular stress, leading to caspase-1 activation and subsequent interleukin-1β (IL-1β) processing and cell death.
Cridland, Simon O. +4 more
core +1 more source
Yanagi: Transcript Segment Library Construction for RNA-Seq Quantification [PDF]
, 2017 Analysis of differential alternative splicing from RNA-seq data is complicated by the fact that many RNA-seq reads map to multiple transcripts, and that annotated transcripts from a given gene are often a small subset of many possible complete ...
Cornwell, Steffen +2 more
core +1 more source
Molecular Therapy: Nucleic Acids, 2014 Antisense-mediated exon skipping is currently in clinical development for Duchenne muscular dystrophy (DMD) to amend the consequences of the underlying genetic defect and restore dystrophin expression. Due to turnover of compound, transcript, and protein,
Ingrid E C Verhaart +9 more
doaj +1 more source