Results 21 to 30 of about 64,882 (210)

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome

Kidney International Reports
Introduction: Alport syndrome (AS) is an inherited kidney disease caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in type IV collagen abnormalities.
Hideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yu Tanaka, Chika Ueda, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Rini Rossanti, Masafumi Matsuo, Kandai Nozu   +14 more
doaj   +1 more source

Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease

Frontiers in Genetics, 2021
Alternative splicing is a fundamental mechanism of eukaryotic RNA regulation that increases the transcriptomic and proteomic complexity within an organism.
M. Brandon Titus, Adeline W. Chang, Eugenia C. Olesnicky   +2 more
doaj   +1 more source

RNA modification-mediated aberrant alternative splicing: An underlying driver of disease pathogenesis

Cell Investigation
RNA modification and alternative splicing are central mechanisms in the regulation of eukaryotic gene expression. RNA modifications, which occur in a variety of chemical forms, exert widespread influences on RNA structure, stability and function ...
Jin Zeng, Li-Ting Diao, Shu-Juan Xie, Zhen-Dong Xiao   +3 more
doaj   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

RNA structure in alternative splicing regulation: from mechanism to therapy

Acta Biochimica et Biophysica Sinica
Alternative splicing is a highly intricate process that plays a crucial role in post-transcriptional regulation and significantly expands the functional proteome of a limited number of coding genes in eukaryotes ...
Bao Nengcheng, Wang Zhechao, Fu Jiayan, Dong Haiyang, Jin Yongfeng   +4 more
doaj   +1 more source

Ultra-deep sequencing reveals pre-mRNA splicing as a sequence driven high-fidelity process.

PLoS ONE, 2019
Alternative splicing diversifies mRNA transcripts in human cells. While the spliceosome pairs exons with a high degree of accuracy, the rates of rare aberrant and non-canonical pre-mRNA splicing have not been evaluated at the nucleotide level to ...
Derrick J Reynolds, Klemens J Hertel
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Intron retention is a hallmark and spliceosome represents a therapeutic vulnerability in aggressive prostate cancer

Nature Communications, 2020
Dysregulation of mRNA alternative splicing is prevalent in cancers. Here, the authors characterized the landscape of aberrant alternative splicing during the development of prostate cancer, progression and therapeutic resistance and show that splicing ...
Dingxiao Zhang, Qiang Hu, Xiaozhuo Liu, Yibing Ji, Hsueh-Ping Chao, Yan Liu, Amanda Tracz, Jason Kirk, Silvia Buonamici, Ping Zhu, Jianmin Wang, Song Liu, Dean G. Tang   +12 more
doaj   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, EarlyView.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source