Results 81 to 90 of about 2,990,182 (255)
Molecular and Structural Insights into Splice Site Selection [PDF]
, 2020 The process of pre-mRNA splicing is conserved from yeast to humans. Alternative splicing drives transcriptomic and proteomic diversity in higher eukaryotes through the creation of multiple unique mRNA transcripts from one gene encoded pre-mRNA ...
Shenasa, Hossein
core +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
UU/ preference is independent of splice site location.
, 2022 (A) Sequences of three splice site choice competition reporters based on C. elegans unc-73: the first is the unc-73(e936) allele that allows for three cryptic splice sites as described in Fig 1A; below that, unc-73(e936az30) intragenic suppressor allele ...
Alan M. Zahler (12072734) +5 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites
RNA BiologySF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert +5 more
doaj +1 more source
Non-canonical 5’ splice site usage.
, 2019 Non-canonical 5’ splice site usage.
Derrick J. Reynolds (2811250) +1 more
core +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Predicting DNA sequence splice site based on graph convolutional network and DNA graph construction
Journal of King Saud University: Computer and Information SciencesIdentifying splice sites is essential for gene structure analysis and eukaryotic genome annotation. Recently, computational and deep learning approaches for splice site detection have advanced, focusing on reducing false positives by distinguishing true ...
Luo Rentao +3 more
doaj +1 more source
Splice intervals of ODP Site 154-925
, 2017 Splice intervals of ODP Site 154 ...
Tian, Jun +11 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source