Ribosome heterogeneity and specialization in development

K Norris, T Hopes, JL Aspden - Wiley interdisciplinary reviews …, 2021 - Wiley Online Library
Regulation of protein synthesis is a vital step in controlling gene expression, especially
during development. Over the last 10 years, it has become clear that rather than being …

Phase separation and pathologic transitions of RNP condensates in neurons: implications for amyotrophic lateral sclerosis, frontotemporal dementia and other …

A Naskar, A Nayak, MR Salaikumaran… - Frontiers in Molecular …, 2023 - frontiersin.org
Liquid–liquid phase separation results in the formation of dynamic biomolecular
condensates, also known as membrane-less organelles, that allow for the assembly of …

Ribosomal RNA 2′ O-methylation as a novel layer of inter-tumour heterogeneity in breast cancer

V Marcel, J Kielbassa, V Marchand, KS Natchiar… - NAR …, 2020 - academic.oup.com
Recent epitranscriptomics studies unravelled that ribosomal RNA (rRNA) 2′ O-methylation
is an additional layer of gene expression regulation highlighting the ribosome as a novel …

Site-specific methylation of 18S ribosomal RNA by SNORD42A is required for acute myeloid leukemia cell proliferation

C Pauli, Y Liu, C Rohde, C Cui… - Blood, The Journal …, 2020 - ashpublications.org
Noncoding RNAs, including small nucleolar RNAs (snoRNAs), play important roles in
leukemogenesis, but the relevant mechanisms remain incompletely understood. We …

Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons

SD Sharma, BK Reddy, R Pal, TE Ritakari, JD Cooper… - Cell Reports, 2023 - cell.com
Pre-clinical studies of fragile X syndrome (FXS) have focused on neurons, with the role of
glia remaining largely underexplored. We examined the astrocytic regulation of aberrant …

The Alazami syndrome-associated protein LARP7 guides U6 small nuclear RNA modification and contributes to splicing robustness

D Hasler, R Meduri, M Bąk, G Lehmann, L Heizinger… - Molecular cell, 2020 - cell.com
The La-related protein 7 (LARP7) forms a complex with the nuclear 7SK RNA to regulate
RNA polymerase II transcription. It has been implicated in cancer and the Alazami …

Novel FMRP interaction networks linked to cellular stress

MS Taha, F Haghighi, A Stefanski… - The FEBS …, 2021 - Wiley Online Library
Silencing of the fragile X mental retardation 1 (FMR1) gene and consequently lack of
synthesis of FMR protein (FMRP) are associated with fragile X syndrome, which is one of the …

DHX15-independent roles for TFIP11 in U6 snRNA modification, U4/U6. U5 tri-snRNP assembly and pre-mRNA splicing fidelity

A Duchemin, T O'grady, S Hanache, A Mereau… - Nature …, 2021 - nature.com
The U6 snRNA, the core catalytic component of the spliceosome, is extensively modified
post-transcriptionally, with 2'-O-methylation being most common. However, how U6 2'-O …

Emerging data on the diversity of molecular mechanisms involving C/D snoRNAs

L Baldini, B Charpentier, S Labialle - Non-coding RNA, 2021 - mdpi.com
Box C/D small nucleolar RNAs (C/D snoRNAs) represent an ancient family of small non-
coding RNAs that are classically viewed as housekeeping guides for the 2′-O-methylation …

Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models

SG Susco, S Ghosh, P Mazzucato, G Angelini… - Cell reports, 2022 - cell.com
Down syndrome (DS), driven by an extra copy of chromosome 21 (HSA21), and fragile X
syndrome (FXS), driven by loss of the RNA-binding protein FMRP, are two common genetic …