Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature reviews genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

[HTML][HTML] Cellular senescence: defining a path forward

V Gorgoulis, PD Adams, A Alimonti, DC Bennett… - Cell, 2019 - cell.com
Cellular senescence is a cell state implicated in various physiological processes and a wide
spectrum of age-related diseases. Recently, interest in therapeutically targeting senescence …

In vivo base editing rescues Hutchinson–Gilford progeria syndrome in mice

LW Koblan, MR Erdos, C Wilson, WA Cabral, JM Levy… - Nature, 2021 - nature.com
Hutchinson–Gilford progeria syndrome (HGPS or progeria) is typically caused by a
dominant-negative C• G-to-T• A mutation (c. 1824 C> T; p. G608G) in LMNA, the gene that …

Antioxidant and oxidative stress: a mutual interplay in age-related diseases

BL Tan, ME Norhaizan, WPP Liew… - Frontiers in …, 2018 - frontiersin.org
Aging is the progressive loss of organ and tissue function over time. Growing older is
positively linked to cognitive and biological degeneration such as physical frailty …

Lifelong restriction of dietary branched-chain amino acids has sex-specific benefits for frailty and life span in mice

NE Richardson, EN Konon, HS Schuster, AT Mitchell… - Nature Aging, 2021 - nature.com
Protein-restricted diets promote health and longevity in many species. While the precise
components of a protein-restricted diet that mediate the beneficial effects to longevity have …

[HTML][HTML] In vivo amelioration of age-associated hallmarks by partial reprogramming

A Ocampo, P Reddy, P Martinez-Redondo… - Cell, 2016 - cell.com
Aging is the major risk factor for many human diseases. In vitro studies have demonstrated
that cellular reprogramming to pluripotency reverses cellular age, but alteration of the aging …

Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice

C Bárcena, R Valdés-Mas, P Mayoral, C Garabaya… - Nature medicine, 2019 - nature.com
The gut microbiome is emerging as a key regulator of several metabolic, immune and
neuroendocrine pathways,. Gut microbiome deregulation has been implicated in major …

LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes

F Della Valle, P Reddy, M Yamamoto, P Liu… - Science Translational …, 2022 - science.org
Constitutive heterochromatin is responsible for genome repression of DNA enriched in
repetitive sequences, telomeres, and centromeres. During physiological and pathological …

RNA mis-splicing in disease

MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …

Splice-switching antisense oligonucleotides as therapeutic drugs

MA Havens, ML Hastings - Nucleic acids research, 2016 - academic.oup.com
Splice-switching oligonucleotides (SSOs) are short, synthetic, antisense, modified nucleic
acids that base-pair with a pre-mRNA and disrupt the normal splicing repertoire of the …