Results 111 to 120 of about 10,182 (283)

Disruption of Minor Intron Splicing by Disease-associated Mutations in U12 snRNA [PDF]

, 2023
In eukaryotic gene expression, the removal of introns from pre-mRNA is an essential function carried out by spliceosomes. Human cells have two distinct spliceosomes: U2-dependent and U12-dependent.
Jancik, Kyra
core   +1 more source

CryoEM structures of two spliceosomal complexes: starter and dessert at the spliceosome feast

Current Opinion in Structural Biology, 2016
The spliceosome is formed on pre-mRNA substrates from five small nuclear ribonucleoprotein particles (U1, U2, U4/U6 and U5 snRNPs), and numerous non-snRNP factors. Saccharomyces cerevisiae U4/U6.U5 tri-snRNP comprises U5 snRNA, U4/U6 snRNA duplex and approximately 30 proteins and represents a substantial part of the spliceosome before activation ...
Nguyen, Thi Hoang Duong, Galej, Wojciech P, Fica, Sebastian M, Lin, Pei-Chun, Newman, Andrew J, Nagai, Kiyoshi   +5 more
openaire   +2 more sources

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, EarlyView.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

Nuclear hyaluronidase 2 drives alternative splicing of CD44 pre-mRNA to determine profibrotic or antifibrotic cell phenotype [PDF]

, 2017
The cell surface protein CD44 is involved in diverse physiological processes, and its aberrant function is linked to various pathologies such as cancer, immune dysregulation, and fibrosis.
Hascall, Vincent, Meran, Soma, Midgley, Adam C., Oltean, Sebastian, Phillips, Aled O., Steadman, Robert, Woods, Emma L.   +6 more
core   +2 more sources

Spliceosome protein alterations differentiate hubs of the default mode connectome during the progression of Alzheimer's disease

Brain Pathology, EarlyView.
Default mode network (DMN) consists, in part, of the frontal (FC), precuneus (PreC), and posterior cingulate cortex (PCC), which plays a critical role in episodic memory and retrieval of autobiographical memories, displays spatiotemporal differences in the onset of amyloid and hypometabolism that reflects tau neurodegeneration and loss of connectivity ...
Sylvia E. Perez, Muhammad Nadeem, Bin He, Jennifer C. Miguel, David G. Moreno, Marta Moreno‐Rodriguez, Michael Malek‐Ahmadi, Chadwick M. Hales, Elliott J. Mufson   +8 more
wiley   +1 more source

YIPF2 regulates genome integrity

Cell & Bioscience
Understanding of the mechanisms for genome integrity maintenance can help in developing effective intervention strategies to combat aging. A whole-genome RNAi screen was conducted to identify novel factors involved in maintaining genome stability.
Xiao Zhang, Tao Wang
doaj   +1 more source

RNA Nuclear Export: From Neurological Disorders to Cancer [PDF]

, 2017
The presence of a nuclear envelope, also known as nuclear membrane, defines the structural framework of all eukaryotic cells by separating the nucleus, which contains the genetic material, from the cytoplasm where the synthesis of proteins takes place ...
Hautbergue, G.M.
core   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Comparative validation of the D. melanogaster modENCODE transcriptome annotation [PDF]

, 2014
Accurate gene model annotation of reference genomes is critical for making them useful. The modENCODE project has improved the D. melanogaster genome annotation by using deep and diverse high-throughput data.
Chen, Zhen-Xia, Sternberg, Paul W.
core  

Ezh2 Regulates Early Astrocyte Morphogenesis and Influences the Coverage of Astrocytic Endfeet on the Vasculature

Cell Proliferation, EarlyView.
Ezh2‐deficient astrocytes showed morphologically more slender but sparse dendrites, resulting in reduced endfoot coverage and also causing disruption of the blood–brain barrier. ABSTRACT Astrocytes are crucial for central nervous system (CNS) development and function, with their differentiation being stringently controlled by epigenetic mechanisms ...
Xinghua Zhao, Mengtian Zhang, WenZheng Zou, Chenxiao Li, Shukui Zhang, Yuqing Lv, Libo Su, Fen Ji, Jianwei Jiao, Yufei Gao   +9 more
wiley   +1 more source