Results 121 to 130 of about 37,352 (250)
Spliceostatin A inhibits spliceosome assembly subsequent to prespliceosome formation [PDF]
, 2010 Pre-mRNA splicing is catalyzed by the large ribonucleoprotein spliceosome. Spliceosome assembly is a highly dynamic process in which the complex transitions through a number of intermediates. Recently, the potent anti-tumor compound Spliceostatin A (SSA)
Roybal, Gabriel A +3 more
core +1 more source
Biomolecules, 2019 The spliceosome accurately promotes precursor messenger-RNA splicing by recognizing specific noncoding intronic tracts including the branch point sequence (BPS) and the 3’-splice-site (3’SS).
Jure Borišek +6 more
doaj +1 more source
Long Non‐Coding RNA, Like NEAT1 and MALAT1, in Asthma: Mechanisms and Therapeutic Potential
Clinical &Experimental Allergy, EarlyView.Long non‐coding RNA, like NEAT1 and MALAT1, is emerging as a regulator of asthma‐related inflammation, airway remodelling, viral responses and cell death pathways, and are promising targets for future therapeutics. ABSTRACT Asthma affects millions worldwide. Long non‐coding RNA (lncRNA) are emerging as important factors in the pathophysiology of asthma
Ashlyn Poole +4 more
wiley +1 more source
Unlocking the undruggable spliceosome: generative AI and structural dynamics in cancer therapy
Frontiers in Cell and Developmental BiologyThe spliceosome is a dynamic molecular machine essential for transcriptome diversity, yet its complexity creates specific vulnerabilities in cancer. Recurrent somatic mutations in core factors, particularly SF3B1, U2AF1, and SRSF2, drive malignancies by ...
Jakob Steuer +3 more
doaj +1 more source
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
Clinical Genetics, EarlyView.Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco +14 more
wiley +1 more source
The spliceosome as target for anticancer treatment
, 2009 The spliceosome is a ribonucleoprotein complex involved in RNA splicing, that is, the removal of non-coding introns from precursor messenger RNA. (Alternative) Splicing events may play an essential role in tumourigenesis.
van Alphen, RJ (Robbert) +12 more
core +1 more source
Splice Site Recognition During Early Spliceosome Assembly [PDF]
, 2019 Protein coding sequences in most eukaryotic pre-messenger RNAs (pre-mRNA) are interrupted by intervening sequences called introns, while the protein coding sequences are termed exons.
Lumba, Charles Leonard Mallari
core +1 more source
Clinical Genetics, EarlyView.We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma +9 more
wiley +1 more source
Mechanistic and structural studies of spliceosome active site formation [PDF]
, 2018 The spliceosome is a eukaryotic molecular machine composed of uridine-rich small nuclear RNAs (U snRNA) and dozens of proteins that facilitate an RNA processing event known as pre-RNA splicing.
Macrae, Andrew James
core
Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms
Frontiers in Cell and Developmental BiologyCraniofacial spliceosomopathies are syndromes resulting from mutations in components of the spliceosome, presenting with facial dysostosis in combination with other phenotypes.
Casey Griffin
doaj +1 more source