Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

CS Chi, CR Tsai, HF Lee - Human Genetics, 2023 - Springer
Biallelic SHQ1 variant-related neurodevelopmental disorder is extremely rare. To date, only
six affected individuals, from four families, have been reported. Here, we report eight …

NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis

Y Abel, ACF Paiva, J Bizarro, ME Chagot… - Nucleic Acids …, 2021 - academic.oup.com
The PAQosome is a large complex composed of the HSP90/R2TP chaperone and a
prefoldin-like module. It promotes the biogenesis of cellular machineries but it is unclear …

Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance

A Garus, C Autexier - Rna, 2021 - rnajournal.cshlp.org
Dyskerin and its homologs are ancient and conserved enzymes that catalyze the most
common post-transcriptional modification found in cells, pseudouridylation. The resulting …

[HTML][HTML] Advances in understanding telomerase assembly

BM Klump, JC Schmidt - Biochemical Society Transactions, 2023 - portlandpress.com
Telomerase is a complex ribonucleoprotein scaffolded by the telomerase RNA (TR).
Telomere lengthening by telomerase is essential to maintain the proliferative potential of …

[HTML][HTML] SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival

H Su, J Hu, L Huang, Y Yang, M Thenoz… - Nature …, 2018 - nature.com
T-acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy with
complicated heterogeneity. Although expression profiling reveals common elevated genes …

Protein Hit1, a novel box C/D snoRNP assembly factor, controls cellular concentration of the scaffolding protein Rsa1 by direct interaction

B Rothé, JM Saliou, M Quinternet, R Back… - Nucleic acids …, 2014 - academic.oup.com
Biogenesis of eukaryotic box C/D small nucleolar ribonucleoprotein particles (C/D
snoRNPs) involves conserved trans-acting factors, which are proposed to facilitate the …

snoRNAs in hematopoiesis and blood malignancies: A comprehensive review

MF Challakkara, R Chhabra - Journal of cellular physiology, 2023 - Wiley Online Library
Small nucleolar RNAs (snoRNAs) are noncoding RNA molecules of highly variable size,
usually ranging from 60 to 150 nucleotides. They are classified into H/ACA box snoRNAs …

[HTML][HTML] Extract2Chip—Bypassing Protein Purification in Drug Discovery Using Surface Plasmon Resonance

ACF Paiva, AR Lemos, P Busse, MT Martins, DO Silva… - Biosensors, 2023 - mdpi.com
Modern drug discovery relies on combinatorial screening campaigns to find drug molecules
targeting specific disease-associated proteins. The success of such campaigns often relies …

Molecular diagnosis and precission therapeutic approaches for telomere biology disorders

R Perona, L Iarriccio, L Pintado-Berninches… - Telomeres …, 2016 - books.google.com
Telomeres are nucleo-protein structures located at the end of chromosomes that protect
them from degradation. Telomeres length is maintained by the activity of the telomerase …

[HTML][HTML] INI1/SMARCB1 Rpt1 domain mimics TAR RNA in binding to integrase to facilitate HIV-1 replication

U Dixit, S Bhutoria, X Wu, L Qiu, M Spira… - Nature …, 2021 - nature.com
Abstract INI1/SMARCB1 binds to HIV-1 integrase (IN) through its Rpt1 domain and exhibits
multifaceted role in HIV-1 replication. Determining the NMR structure of INI1-Rpt1 and …