Results 91 to 100 of about 205,219 (310)

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

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

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

Steric antisense inhibition of AMPA receptor Q/R editing reveals tight coupling to intronic editing sites and splicing [PDF]

, 2012
Adenosine-to-Inosine (A-to-I) RNA editing is a post-transcriptional mechanism, evolved to diversify the transcriptome in metazoa. In addition to wide-spread editing in non-coding regions protein recoding by RNA editing allows for fine tuning of protein ...
Ales Balik, Altschul, Andrew C. Penn, Arzumanov, Arzumanov, Balik, Bass, Birney, Brusa, Carver, Daniel, Darty, Dominski, Egebjerg, Eisen, Enstero, Feldmeyer, Gallo, Ge, Greger, Hamada, Heasman, Higuchi, Higuchi, Hogg, Ingo H. Greger, Jepson, Jubin, Katoh, Kent, Kwak, Laurencikiene, Maas, Moulton, Peng, Reenan, Rice, Rosenthal, Rueter, Ryman, Schoft, Sommer, Stephens, Summerton, Summerton, Summerton, Tariq, Traynelis, Valente, Venkatesh, Yamashita, Yang   +51 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

Selection of alternative 5 ' splice sites: Role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1 [PDF]

, 2000
The first component known to recognize and discriminate among potential 5' splice sites (5'SSs) in pre-mRNA is the U1 snRNP. However, the relative levels of U1 snRNP binding to alternative 5'SSs do not necessarily determine the splicing outcome ...
Caceres, J. F., Eperon, I. C., Hayward, D. G., Krainer, A. R., Makarova, O. V., Mayeda, A., Munroe, S. H.   +6 more
core   +2 more sources

Biomimetic Copper‐Doped Nano‐Aluminum Adjuvant Potentiates Therapy in Chemoresistant Acute Myeloid Leukemia

Advanced Healthcare Materials, EarlyView.
We developed a novel copper‐doped aluminum nano‐adjuvant (CuNA) to overcome cytarabine resistance in acute myeloid leukemia (AML). CuNA effectively sensitizes drug‐resistant AML cells to cytarabine by inducing mitochondrial dysfunction and inhibiting HMGCR/GPX4 to amplify ferroptosis.
Chao He, Lingxiao Zhang, Yue Xiong, Yu Wang, Yuqing Zeng, Dandan Su, Ran Wang, Ying Li, Hongbo Chen, Fang Cheng, Zhi Ping Xu   +10 more
wiley   +1 more source

Inhibition of U4 snRNA in human cells causes the stable retention of polyadenylated pre-mRNA in the nucleus.

PLoS ONE, 2014
Most human pre-mRNAs contain introns that are removed by splicing. Such a complex process needs strict control and regulation in order to prevent the expression of aberrant or unprocessed transcripts.
Anne Hett, Steven West
doaj   +1 more source

The Evolutionarily-conserved Polyadenosine RNA Binding Protein, Nab2, Cooperates with Splicing Machinery to Regulate the Fate of pre-mRNA [PDF]

, 2016
Numerous RNA binding proteins are deposited onto an mRNA transcript to modulate post-transcriptional processing events ensuring proper mRNA maturation. Defining the interplay between RNA binding proteins that couple mRNA biogenesis events is crucial for ...
Bellur, Deepti L., Bergkessel, Megan, Corbett, Anita H., Deng, Qiudong, Duong, Duc, Fasken, Milo B., Guthrie, Christine, Morris, Kevin J., Seyfried, Nicholas T., Soucek, Sharon, Staley, Jonathan P., Zeng, Yi   +11 more
core   +1 more source

SnoRNP Biogenesis Meets Pre-mRNA Splicing [PDF]

Molecular Cell, 2006
In vertebrates, hundreds of small nucleolar RNAs (snoRNAs) are processed from pre-mRNA introns. In the September 1 issue of Molecular Cell, Hirose et al. (2006) demonstrate that a spliceosomal intron binding protein, IBP160, couples box C/D snoRNA processing with pre-mRNA splicing in the C1 splicing complex.
openaire   +2 more sources