Cellular functions of eukaryotic RNA helicases and their links to human diseases
KE Bohnsack, S Yi, S Venus, E Jankowsky… - … Reviews Molecular Cell …, 2023 - nature.com
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 …
[HTML][HTML] Formation, function, and pathology of RNP granules
Ribonucleoprotein (RNP) granules are diverse membrane-less organelles that form through
multivalent RNA-RNA, RNA-protein, and protein-protein interactions between RNPs. RNP …
multivalent RNA-RNA, RNA-protein, and protein-protein interactions between RNPs. RNP …
Mechanisms and regulation of RNA condensation in RNP granule formation
Ribonucleoprotein (RNP) granules are RNA–protein assemblies that are involved in
multiple aspects of RNA metabolism and are linked to memory, development, and disease …
multiple aspects of RNA metabolism and are linked to memory, development, and disease …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
ALS/FTD-associated C9ORF72 repeat RNA promotes phase transitions in vitro and in cells
MM Fay, PJ Anderson, P Ivanov - Cell reports, 2017 - cell.com
Membraneless RNA granules originate via phase separation events driven by multivalent
interactions. As RNA is the defining component of such granules, we examined how RNA …
interactions. As RNA is the defining component of such granules, we examined how RNA …
[HTML][HTML] An in vitro system to silence mitochondrial gene expression
LD Cruz-Zaragoza, S Dennerlein, A Linden, R Yousefi… - Cell, 2021 - cell.com
The human mitochondrial genome encodes thirteen core subunits of the oxidative
phosphorylation system, and defects in mitochondrial gene expression lead to severe …
phosphorylation system, and defects in mitochondrial gene expression lead to severe …
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of
unexplained intellectual disability (ID) cases in females and are associated with autism …
unexplained intellectual disability (ID) cases in females and are associated with autism …
The diseased mitoribosome
A Ferrari, S Del'Olio, A Barrientos - FEBS letters, 2021 - Wiley Online Library
Mitochondria control life and death in eukaryotic cells. Harboring a unique circular genome,
a by‐product of an ancient endosymbiotic event, mitochondria maintains a specialized and …
a by‐product of an ancient endosymbiotic event, mitochondria maintains a specialized and …
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
D Lessel, C Gehbauer, NC Bramswig… - Brain, 2018 - academic.oup.com
The transcription factor BCL11B is essential for development of the nervous and the immune
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …
Regulation of mitochondrial electron transport chain assembly
S Cogliati, I Lorenzi, G Rigoni, F Caicci… - Journal of molecular …, 2018 - Elsevier
Mitochondrial function depends on the correct synthesis, transport, and assembly of proteins
and cofactors of the electron transport chain. The initial idea that the respiratory chain …
and cofactors of the electron transport chain. The initial idea that the respiratory chain …