Results 81 to 90 of about 127,514 (315)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Deletion of the N-terminus of SF2/ASF permits RS-domain-independent pre-mRNA splicing. [PDF]

PLoS ONE, 2007
Serine/arginine-rich (SR) proteins are essential splicing factors with one or two RNA-recognition motifs (RRMs) and a C-terminal arginine- and serine-rich (RS) domain. SR proteins bind to exonic splicing enhancers via their RRM(s), and from this position
Stephanie D Shaw, Sutapa Chakrabarti, Gourisankar Ghosh, Adrian R Krainer   +3 more
doaj   +1 more source

MicroRNA‐Biogenesis and Pre‐mRNA Splicing Crosstalk [PDF]

BioMed Research International, 2009
MicroRNAs (miRNAs) are often hosted in introns of protein‐coding genes. Given that the same transcriptional unit can potentially give rise to both miRNA and mRNA transcripts raises the intriguing question of the level of interaction between these processes.
Shomron, Noam, Levy, Carmit
openaire   +4 more sources

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

Pre-mRNA splicing is a determinant of nucleosome organization [PDF]

Epigenetics & Chromatin, 2013
Chromatin organization affects alternative splicing and previous studies have shown that exons have increased nucleosome occupancy compared with their flanking introns. To determine whether alternative splicing affects chromatin organization we developed a system in which the alternative splicing pattern switched from inclusion to skipping as a ...
Hadas Keren-Shaul, Galit Lev-Maor, Gil Ast   +2 more
openaire   +4 more sources

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Pre-mRNA Splicing and the Nuclear Matrix

Molecular and Cellular Biology, 1987
We examined the relationship between pre-mRNA splicing and the nuclear matrix by using an in vivo system that we have developed. Plasmids containing the inducible herpesvirus tk gene promoter linked to an intron-containing segment of the rabbit beta-globin gene were transfected into HeLa cells, and then the promoter was transactivated by infection with
S, Zeitlin, A, Parent, S, Silverstein, A, Efstratiadis   +3 more
openaire   +3 more sources

RNA catalyses nuclear pre-mRNA splicing [PDF]

Nature, 2013
In nuclear pre-messenger RNA splicing, introns are excised by the spliceosome, a dynamic machine composed of both proteins and small nuclear RNAs (snRNAs). Over thirty years ago, after the discovery of self-splicing group II intron RNAs, the snRNAs were proposed to catalyse splicing.
Fica, Sebastian M., Tuttle, Nicole, Novak, Thaddeus, Li, Nan-Sheng, Lu, Jun, Koodathingal, Prakash, Dai, Qing, Staley, Jonathan P., Piccirilli, Joseph A.   +8 more
openaire   +2 more sources

Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1

, 2014
This work is supported by the Scottish Universities Life Science Alliance (SULSA) and the Biotechnology and Biological Sciences Research Council (BBSRC) via a Ph.D.
Coleman, Stewart, Sleeman, Judith E., Coleman, Stewart M., Prescott, Alan R., Sleeman, Judith Elizabeth, Prescott, Alan R.; id_orcid   +5 more
core   +1 more source

Targeting Post‐Irradiation Thyroid Dysfunction: Electrospun Scaffolds As A Dual‐Action Approach for Antioxidant and Immune Modulation

Advanced Healthcare Materials, EarlyView.
Radiation‐induced hypothyroidism follows head and neck radiotherapy due to oxidative stress and inflammation. Electrospun polycaprolactone scaffolds containing adenosine have potential to modulate thyroid repair. Scaffolds enhance thyrocyte proliferation, antioxidant enzymes glutathione peroxidase and catalase, reduce senescence and apoptosis markers ...
Maria Heim, Ella‐Louise Handley, Daniel Grant, Lizi M. Hegarty, Elaine Emmerson, Anthony Callanan   +5 more
wiley   +1 more source