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 …

[HTML][HTML] Formation, function, and pathology of RNP granules

N Ripin, R Parker - Cell, 2023 - cell.com
Ribonucleoprotein (RNP) granules are diverse membrane-less organelles that form through
multivalent RNA-RNA, RNA-protein, and protein-protein interactions between RNPs. RNP …

Mechanisms and regulation of RNA condensation in RNP granule formation

D Tauber, G Tauber, R Parker - Trends in biochemical sciences, 2020 - cell.com
Ribonucleoprotein (RNP) granules are RNA–protein assemblies that are involved in
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

JE Posey, AH O'Donnell-Luria, JX Chong, T Harel… - Genetics in …, 2019 - nature.com
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
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 …

[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 …

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner… - Neuron, 2020 - cell.com
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 …

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 …

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 …

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 …