genetic perturbation / CRISPR

This study shows that neuronal Aralar deficiency causes ASD-like social behavior deficits through dopaminergic and redox dysfunction, which are reversed by β-hydroxybutyrate treatment.

The paper identifies PKR as a critical mediator of mitochondrial neuropathology in a mouse model of Leigh syndrome, showing its role in neuroinflammation and disease progression.

This paper identifies a TMEM175 mutation causing short QT syndrome and sudden cardiac death by disrupting lysosomal-mitochondrial interactions and impairing mitochondrial function.

The paper uses in vivo single-cell CRISPR screens to study how tumor suppressor loss and genetic perturbations affect glioma states and immune recruitment in mice.

This study identifies SAMP1 as a protector of alveolar type 2 cells against DNA damage-induced senescence and shows its role in limiting pulmonary fibrosis in a mouse model.

The paper identifies a druggable CSNK2A1-MeCP2 regulatory axis linking Okur-Chung neurodevelopmental syndrome with MECP2-related disorders through CRISPR screens and mouse models.

The paper maps gene regulators of endothelial cell differentiation using CRISPR and single-cell RNA-seq, identifying Hippo mechanosignaling as critical for endothelial identity.

The paper identifies a new Serratia taxon in mites with genomic signs of host adaptation but phylogenetically distinct from S. symbiotica.

This study shows Apelin signaling regulates neuroendocrine homeostasis in zebrafish via Atoh8-dependent transcriptional control, affecting development, fertility, and aging.

The paper shows PROM1 activation in liver cancer cells shifts their state along a preexisting differentiation axis, suggesting CD133's role extends beyond being a stem-like marker.

This study uses AAV-delivered LplA to rescue lethal mitochondrial lipoylation defects in Lipt1-deficient mice, improving survival, motor function, and cardiac health.

This study shows that loss of stromal VEGFR2 protects against ischemic AKI by preserving the renal microvasculature through enhanced endothelial function and communication.

The paper assesses the functional impact of PCSK9 variants on LDL uptake using a knockout hepatic model, revealing heterogeneity in variant activities and providing insights into their mechanisms.

This study shows that engineered NKG2C+ NK-like T cells have better antitumor effects and lower cytokine release syndrome risk than conventional CAR-T and CAR-NK cells.

This paper shows that loss-of-function variants in MAP3K7 cause dilated cardiomyopathy (DCM), both as part of syndromic disease and as apparently isolated DCM.

This study uses a CRISPR screen to identify genes critical for erythroblast enucleation, finding CLIC3 and VAMP8 as key factors with distinct roles in the process.

This study identifies tumor-intrinsic stress states as modulators of CAR T cell therapy response in pancreatic cancer using CRISPR screens and single-cell genomics.

This study identifies ZNF865 as a regulator of cell senescence and DNA damage in intervertebral discs, showing its role in back pain and potential as a therapeutic target.

This study identifies C3aR as a mediator of HFD-induced hypothalamic microgliosis and obesity, showing its role in lipid droplet formation and neuroinflammation.

Mice can report optogenetic activation of vagal gut mechanosensory neurons; insular cortex encodes perceptual report and causally affects detection only in a difficult psychophysics task, not simple detection.

This paper uses a CRISPR-based humanized model to show that STAG2 loss cooperates with GATA2 deficiency to drive MDS progression through increased HSC self-renewal and myeloid bias.

This study uses CRISPR-Cas9 to identify LY6E as an antiviral factor against coronaviruses in respiratory cells.

This paper shows that disrupting a faulty splice donor site in progeria reduces toxic protein levels and extends lifespan in mice.

Whole-exome sequencing of memory NK cells from 81 CMV-seropositive donors reveals dominant somatic clones, early-life origin, and positive selection, with Kmt2d loss shifting mouse NK fitness.

This study shows that AMPK activation rescues mitochondrial function and structural remodeling in TMEM70-deficient cardiomyocytes, highlighting a metabolic rescue mechanism in mitochondrial cardiomyopathy.

This study identifies somatic mutations in a 149-year-old Citrus sinensis tree and its clonal lineage, showing non-random spatial and genomic distributions and evidence of somatic selection.

This study identifies CLN8 as a stereospecific GPG acyltransferase critical for BMP biosynthesis, showing its loss causes Batten disease and that S,S-LPG supplementation can restore BMP and improve neurological symptoms.

This paper creates CRISPR knock-in Drosophila models of MADD with ETFDH mutations, showing exercise improves disease phenotypes.

This study shows that the Drosophila gene short stop has opposing roles in dendrite stability and regeneration, with distinct effects on DLK and JNK signaling in different neuron types.

This study shows that TGF-β-dependent myCAFs promote pancreatic cancer metastasis, while IL-1-dependent iCAFs do not, through distinct signaling mechanisms.