Cellular functions of eukaryotic RNA helicases and their links to human diseases
RNA helicases are highly conserved proteins that use nucleoside triphosphates to bind or
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …
Genetics of 46, XY gonadal dysgenesis
In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …
formation and represses ovarian development. Disruption of this process results in a lack of …
DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer
SF3B1 is the most frequently mutated spliceosomal gene in cancer. Several hotspot
mutations are known to disrupt the interaction of SF3B1 with another splicing factor, SUGP1 …
mutations are known to disrupt the interaction of SF3B1 with another splicing factor, SUGP1 …
RNA folding and functions of RNA helicases in ribosome biogenesis
V Mitterer, B Pertschy - RNA biology, 2022 - Taylor & Francis
Eukaryotic ribosome biogenesis involves the synthesis of ribosomal RNA (rRNA) and its
stepwise folding into the unique structure present in mature ribosomes. rRNA folding starts …
stepwise folding into the unique structure present in mature ribosomes. rRNA folding starts …
Mechanism for the initiation of spliceosome disassembly
MK Vorländer, P Rothe, J Kleifeld, ED Cormack… - Nature, 2024 - nature.com
Abstract Precursor-mRNA (pre-mRNA) splicing requires the assembly, remodelling and
disassembly of the multi-megadalton ribonucleoprotein complex called the spliceosome …
disassembly of the multi-megadalton ribonucleoprotein complex called the spliceosome …
Prp43/DHX15 exemplify RNA helicase multifunctionality in the gene expression network
KE Bohnsack, N Kanwal, MT Bohnsack - Nucleic acids research, 2022 - academic.oup.com
Dynamic regulation of RNA folding and structure is critical for the biogenesis and function of
RNAs and ribonucleoprotein (RNP) complexes. Through their nucleotide triphosphate …
RNAs and ribonucleoprotein (RNP) complexes. Through their nucleotide triphosphate …
A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes
Here we report a Survival Motor Neuron 2 (SMN2) super minigene, SMN2Sup,
encompassing its own promoter, all exons, their flanking intronic sequences and the entire …
encompassing its own promoter, all exons, their flanking intronic sequences and the entire …
The splicing regulators RBM5 and RBM10 are subunits of the U2 snRNP engaged with intron branch sites on chromatin
A Damianov, CH Lin, J Huang, L Zhou… - Molecular Cell, 2024 - cell.com
Understanding the mechanisms of pre-mRNA splicing is limited by the technical challenges
to examining spliceosomes in vivo. Here, we report the isolation of RNP complexes derived …
to examining spliceosomes in vivo. Here, we report the isolation of RNP complexes derived …
GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies
Mutations in the RNA splicing factor gene SF3B1 are common across hematologic and solid
cancers and result in widespread alterations in splicing, yet there is currently no therapeutic …
cancers and result in widespread alterations in splicing, yet there is currently no therapeutic …
Regulation of the DEAH/RHA helicase Prp43 by the G-patch factor Pfa1
M Enders, R Ficner, S Adio - Proceedings of the National …, 2022 - National Acad Sciences
The DEAH/RHA helicase Prp43 remodels protein–RNA complexes during pre-messenger
RNA (mRNA) splicing and ribosome biogenesis. The helicase activity and ATP turnover are …
RNA (mRNA) splicing and ribosome biogenesis. The helicase activity and ATP turnover are …