Results 41 to 50 of about 8,766 (233)

Challenging the spliceosome machine [PDF]

Genome Biology, 2006
Abstract Background Using cDNA copies of transcripts and corresponding genomic sequences from the Berkeley Drosophila Genome Project, a set of 24,753 donor and acceptor splice sites were computed with a scanning algorithm that tested for single nucleotide insertion, deletion and substitution ...
Weir, Michael, Eaton, Matthew, Rice, Michael   +2 more
openaire   +2 more sources

Synergistic assembly of human pre-spliceosomes across introns and exons

eLife, 2018
Most human genes contain multiple introns, necessitating mechanisms to effectively define exons and ensure their proper connection by spliceosomes. Human spliceosome assembly involves both cross-intron and cross-exon interactions, but how these work ...
Joerg E Braun, Larry J Friedman, Jeff Gelles, Melissa J Moore   +3 more
doaj   +1 more source

Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila

Nature Communications, 2020
Spinal muscular atrophy (SMA) is associated with minor splicing-related defects. Here the authors develop Drosophila models with minor spliceosomal-snRNA deletions, and demonstrate SMA-like phenotypes.
Liang Li, Zhan Ding, Ting-Lin Pang, Bei Zhang, Chen-Hui Li, An-Min Liang, Yu-Ru Wang, Yu Zhou, Yu-Jie Fan, Yong-Zhen Xu   +9 more
doaj   +1 more source

Effects of GYP mRNA alternative splicing on cell surface localization of MNS blood group glycoprotein GPA and GPB

Zhongguo shuxue zazhi, 2022
Objective To analyze the polymorphisms of GYPA and GYPB mRNA spliceosomes associated with MNS blood group, and to explore the mechanism of subcellular localization of GPA and GPB protein isomerism encoded by various spliceosomes as well as the expression
Yanlian LIANG, Yanwen LIANG, Jiansuo LIN, Hongxing WANG, Shuai Chen, Yunping XU   +5 more
doaj   +1 more source

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency [PDF]

, 2014
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the ...
Ali Oghabian, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Jesús Argente, Julie A Chowen, Luis A Pérez‐Jurado, Mikko J Frilander, Pfäffle R, Pérez Jurado LA, Raquel Flores   +11 more
core   +2 more sources

Spliceosome Mutations in Uveal Melanoma [PDF]

International Journal of Molecular Sciences, 2020
Uveal melanoma (UM) is the most common primary intraocular malignancy of the eye. It has a high metastatic potential and mainly spreads to the liver. Genetics play a vital role in tumor classification and prognostication of UM metastatic disease. One of the driver genes mutated in metastasized UM is subunit 1 of splicing factor 3b (SF3B1), a component ...
Josephine Q.N. Nguyen, Wojtek Drabarek, Serdar Yavuzyigitoglu, Eva Medico Salsench, Robert M. Verdijk, Nicole C. Naus, Annelies de Klein, Emine Kiliç, Erwin Brosens   +8 more
openaire   +2 more sources

Single‐Injection Multi‐Omics Analysis by Direct Infusion Mass Spectrometry

Angewandte Chemie, EarlyView.
A high‐throughput direct infusion mass spectrometry platform, enabled by gas‐phase ion mobility separation, supports single‐injection analysis of peptides, polar metabolites, and lipids. Coupled with custom software, it identified ∽1,300 proteins and ∽600 metabolites in ∽4.3 minutes per sample, and demonstrated broad utility in macrophage polarization ...
Yuming Jiang, Ivan Salladay‐Perez, Amanda Momenzadeh, Jesús Muñoz‐Estrada, Uktarsh Tripathi, Anthony J. Covarrubias, Jesse G. Meyer   +6 more
wiley   +2 more sources

Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1) gene that leads to reduced levels of SMN protein resulting in degeneration of motor neurons (MNs).
Berciano, Maria T., Calderó i Pardo, Jordi, Lafarga, Miguel, Narcís, Oriol J., Piedrafita Llorens, Lídia, Riancho, Javier, Tapia, Olga, Tarabal Mostazo, Olga   +7 more
core   +2 more sources

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source