Results 121 to 130 of about 248,138 (311)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

RNA splicing for 30 years [PDF]

RNA, 2015
Thirty years ago, I joined John Abelson's lab and started my RNA research career. It was the time that RNA splicing was a revolutionary discovery, and people craved to understand the details of the process. My mission was to develop an in vitro splicing system in yeast so that the mechanism of the splicing reaction could be studied.
openaire   +2 more sources

Introduction to Cotranscriptional RNA Splicing [PDF]

, 2014
The discovery that many intron-containing genes can be cotranscriptionally spliced has led to an increased understanding of how splicing and transcription are intricately intertwined. Cotranscriptional splicing has been demonstrated in a number of different organisms and has been shown to play roles in coordinating both constitutive and alternative ...
Merkhofer, Evan C, Hu, Peter, Johnson, Tracy L   +2 more
openaire   +4 more sources

Mutation of CMTR2 in Lung Adenocarcinoma Alters RNA Alternative Splicing and Reveals Therapeutic Vulnerabilities

Nature Communications
RNA splicing dysregulation has emerged as a hallmark of cancer and a promising therapeutic target; however, its full landscape in human solid cancer remains poorly characterized.
Shigenari Nukaga, Kouya Shiraishi, Kenta Hamabe, Akifumi Mochizuki, Yu Hamaguchi, Emi Ogawa, Nguyen Thai Le, Yoko Shimada, Hanako Ono, Hitomi Nishinakamura, Yoshihisa Kobayashi, Junko Hamamoto, Ayako Ui, Mitsugu Araki, Yukari Sagae, Keiko Ohgino, Kai Sugihara, Satoshi Endo, Jun Miyakoshi, Yuichi Shiraishi, Hiroyuki Yasuda, Yasushi Okuno, Tatsuya Yoshida, Yasushi Goto, Yuichiro Ohe, Shun-Ichi Watanabe, Yasushi Yatabe, Hiroyoshi Nishikawa, Ryuji Hamamoto, Takashi Kohno, Takashi Nakaoku   +30 more
doaj   +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, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms

Nature Communications
Post-transcriptional diversification of RNA transcripts mediated by complex processing machinery, including DEAD-box ATPases, establishes and maintains cellular phenotypes.
Jeong-Ah Kim, Siqi Shen, Christina M. Jurotich, Saritha S. D’Souza, Johnathan J. Caldon, Igor I. Slukvin, Jane E. Churpek, Sunduz Keles, Emery H. Bresnick   +8 more
doaj   +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

A role for the Cajal-body-associated SUMO isopeptidase USPL1 in snRNA transcription mediated by RNA polymerase II [PDF]

, 2014
Cajal bodies are nuclear structures that are involved in biogenesis of snRNPs and snoRNPs, maintenance of telomeres and processing of histone mRNA. Recently, the SUMO isopeptidase USPL1 was identified as a component of Cajal bodies that is essential for ...
Winter, Ulrike, Hutten, Saskia, Melchior, Frauke, Chachami, Georgia, Lamond, Angus I.; id_orcid   +4 more
core   +1 more source

Intronic noncoding RNAs and splicing

Trends in Plant Science, 2008
The gene organization of small nucleolar RNAs (snoRNAs) and microRNAs (miRNAs) varies within and among different organisms. This diversity is reflected in the maturation pathways of these small noncoding RNAs (ncRNAs). The presence of noncoding RNAs in introns has implications for the biogenesis of both mature small RNAs and host mRNA.
Brown, John W. S., Marshall, David F., Echeverria, Manuel   +2 more
openaire   +5 more sources

Aptamer‐Based Delivery Systems for VEGF and NGF Modulation in Ocular Therapies

Advanced Healthcare Materials, EarlyView.
Aptamer‐based delivery systems targeting NGF and VEGF hold significant potential for precise and sustained treatment of complex diseases affecting both the anterior and posterior segments of the eye. This review critically summarizes current strategies for NGF and VEGF delivery as well as VEGF sequestration, providing a clinical perspective on how ...
Nadine Best, Gizem Karabiyik, Gerd Geerling, Sarah Barbara Zwingelberg, Gregor Lang, Martin Humenik   +5 more
wiley   +1 more source