The La and related RNA‐binding proteins (LARPs): structures, functions, and evolving perspectives

RJ Maraia, S Mattijssen… - Wiley Interdisciplinary …, 2017 - Wiley Online Library
La was first identified as a polypeptide component of ribonucleic protein complexes targeted
by antibodies in autoimmune patients and is now known to be a eukaryote cell‐ubiquitous …

Genetics of recessive cognitive disorders

L Musante, HH Ropers - Trends in Genetics, 2014 - cell.com
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X
chromosome gene defects and disease-causing copy-number variants have been linked to …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

N Akawi, J McRae, M Ansari, M Balasubramanian… - Nature …, 2015 - nature.com
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease

S Gerstberger, M Hafner, M Ascano… - Systems biology of RNA …, 2014 - Springer
RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene
regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often …

Genomic analysis of primordial dwarfism reveals novel disease genes

R Shaheen, E Faqeih, S Ansari… - Genome …, 2014 - genome.cshlp.org
Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists
throughout postnatal development and results in stunted adult size. The condition is highly …

[PDF][PDF] LARP7 ameliorates cellular senescence and aging by allosterically enhancing SIRT1 deacetylase activity

P Yan, Z Li, J Xiong, Z Geng, W Wei, Y Zhang, G Wu… - Cell reports, 2021 - cell.com
Cellular senescence is associated with pleiotropic physiopathological processes, including
aging and age-related diseases. The persistent DNA damage is a major stress leading to …

LARP7 protects against heart failure by enhancing mitochondrial biogenesis

H Yu, F Zhang, P Yan, S Zhang, Y Lou, Z Geng, Z Li… - Circulation, 2021 - Am Heart Assoc
Background: Heart failure (HF) is among the leading causes of morbidity and mortality, and
its prevalence continues to rise. LARP7 (La ribonucleoprotein domain family member 7) is a …

RNA polymerase II transcription elongation control

J Guo, DH Price - Chemical reviews, 2013 - ACS Publications
Regulation of gene expression is critical in determining cell identity, development, and
responses to the cellular environment. DNA is the inherited source of genetic information …

MicroRNA 302a is a novel modulator of cholesterol homeostasis and atherosclerosis

S Meiler, Y Baumer, E Toulmin, K Seng… - … , and vascular biology, 2015 - Am Heart Assoc
Objective—Macrophage foam cell formation is a key feature of atherosclerosis. Recent
studies have shown that specific microRNAs (miRs) are regulated in modified low-density …

[PDF][PDF] 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 …