Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]
, 2015 Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti +22 more
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Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study
Children, 2023 Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study
Claudia Brogna +20 more
doaj +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
core +2 more sources
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]
, 2018 Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I +7 more
core +2 more sources
Exon Skipping of AIMP2 and Lymphomagenesis
Blood, 2018 Abstract ARS-interacting multifunctional protein 2 (AIMP2), the component of aminoacyl-tRNA synthase complex, acts as a potent tumor suppressor in conjunction with p53. The second exon deficient AIMP2 generated by alternative splicing mechanism (AIMP2-DX2) induces loses its important role as a signaling modulator.
Jung Lim Lee +12 more
openaire +2 more sources
Exon Skipping in a Dysf-Missense Mutant Mouse Model [PDF]
Molecular Therapy Nucleic Acids, 2018 Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and progressive muscle wasting.
Rachid Benchaouir +13 more
openaire +5 more sources
Molecular Therapy: Nucleic Acids, 2018 Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee +4 more
doaj +1 more source
The CUGBP2 splicing factor regulates an ensemble of branchpoints from perimeter binding sites with implications for autoregulation [PDF]
, 2009 Alternative pre-mRNA splicing adjusts the transcriptional output of the genome by generating related mRNAs from a single primary transcript, thereby expanding protein diversity.
Dembowski, JA, Grabowski, PJ
core +5 more sources
Exon skipping in human β-casein
Genomics, 1992 Earlier amino acid alignments of mature beta-caseins showed that the human protein was shifted in alignment relative to other species, with amino acid deletions in the N-terminal region and others inserted in the C-terminal region. Our alignment, based on cDNA sequences and their translation products, has shown that the amino acid deletions correspond ...
Ying-Fon Chang +3 more
openaire +3 more sources
Cwf16p Associating with the Nineteen Complex Ensures Ordered Exon Joining in Constitutive Pre-mRNA Splicing in Fission Yeast. [PDF]
PLoS ONE, 2015 Exons are ligated in an ordered manner without the skipping of exons in the constitutive splicing of pre-mRNAs with multiple introns. To identify factors ensuring ordered exon joining in constitutive pre-mRNA splicing, we previously screened for exon ...
Noriko Sasaki-Haraguchi +5 more
doaj +1 more source