Table of Contents
Research Articles
- Prenatal risk assessment of Xp21.1 duplication involving the DMD gene by optical genome mapping
It classifies the Xp21.1 duplications involving 5′-terminal DMD in prenatal case series as likely benign using OGM, which emphasizes the importance of structural evaluation on SVs involving DMD and other large dose-sensitive genes.
- JAK inhibition with tofacitinib rapidly increases contractile force in human skeletal muscle
Inhibition of JAK activity with tofacitinib rapidly increases human skeletal muscle fiber force by up-regulating smooth muscle myosin light chain kinase, offering a new treatment for muscle weakness.
- Neutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils
Recurrent infections are a hallmark of STAT3 DN hyper-IgE syndrome, a rare immunodeficiency syndrome, and our study suggests that neutrophil-avid nanocarriers have potential for directed delivery of cargo therapeutics to improve neutrophil infection clearance in these patients.
- Morphological correlates of synaptic protein turnover in the mouse brain
Synapse size, vesicle numbers, or the presence of a nascent zone, are indicators for the metabolic age of the synapse, in both young adult and old mice.
- Examining the liver–pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration
Investigation of the inter-organ, pancreas–liver, crosstalk reveals a potential role of the molybdenum biosynthetic pathway in β-cell regeneration.
- Helminth protein enhances wound healing by inhibiting fibrosis and promoting tissue regeneration
A helminth-derived protein leads to rapid wound closure, skin regeneration, and reprogramming of macrophage activation through TGF-βR binding.
- mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells
This is the first demonstration that mTORC1 inhibits Hedgehog signaling. mTORC1 prevents cilia accumulation of Smo and activation of GlI2. Also, evidence is provided for a 2-step activation process of GLI2.
- Helicobacter pylori induces the expression of Lgr5 and stem cell properties in gastric target cells
Helicobacter pylori infection induces Lgr5 expression and stem cell properties in its target cells in a type IV secretion system/NF-kB-dependent manner. This effect on stemness is exacerbated by constitutive Wnt pathway activation and persists after antibiotic eradication.
- Reprogramming of breast tumor–associated macrophages with modulation of arginine metabolism
A shift of arginine metabolism from polyamine synthesis to nitric oxide synthesis induces reprogramming of macrophages from pro-tumor M2 to anti-tumor M1 types.
- A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function
Identification of a new function for CSA protein in the regulation of the nuclear envelope, preventing nuclear ruptures and activation of inflammation pathways.
- Differential modulation of polycomb-associated histone marks by cBAF, pBAF, and gBAF complexes
This study shows that the canonical BAF (cBAF) complex uniquely opposes polycomb-associated repressive marks at the Nkx2-9 gene in mouse embryonic stem cells, leading to transcriptional activation, a function not shared by gBAF or pBAF complexes.
- Mitochondrial double-stranded RNA homeostasis depends on cell-cycle progression
The accumulation of mitochondrial double-stranded RNA (mt-dsRNA) in cancer cells depends on cell proliferation status. Mt-dsRNA is more abundant in patient lung adenocarcinoma compared with healthy tissue.
- Cryo-EM reveals a phosphorylated R-domain envelops the NBD1 catalytic domain in an ABC transporter
Cryo-EM reveals that the R-domain of an ABCC transporter encircles the ATP catalytic domain-1 in a tetra-phosphorylated manner and regulates the ATPase activity along with cellular transport.
- Regulation of proteostasis by sleep through autophagy in Drosophila models of Alzheimer’s disease
Sleep modulation alters Tau-induced neurodegeneration in Drosophila models of tauopathy.
- Mast cell extracellular trap formation underlies vascular and neural injury and hyperalgesia in sickle cell disease
Mast cell extracellular traps catalyzed by peptidylarginine deiminase 4 contribute to vascular stasis and nerve injury, which may contribute to acute and chronic pain in sickle cell disease.
- Non-redundant roles for the human mRNA decapping cofactor paralogs DCP1a and DCP1b
The study represents the first functional dissection of the two human cofactors present in the RNA decapping complex, and, significantly, it evaluates their role in the transcript buffering system.
- Structural roles of Ump1 and β-subunit propeptides in proteasome biogenesis
A 2.1 Å cryo-EM structure of a late proteasome precursor reveals roles of the assembly chaperone Ump1 and β-subunit propeptides in proteasome biogenesis.
- Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival
This study shows that the ciliopathy kinases Mak and Ick cooperatively act as ciliary tip-localized IFT regulators that are phosphorylated and activated by Ccrk in retinal photoreceptor cells.
Methods
- Identification of single-cell blasts in pediatric acute myeloid leukemia using an autoencoder
The authors present a novel automated approach for the identification of blasts and their developmental stage in a longitudinal pediatric acute myeloid leukemia (AML) cohort. KMT2A-rearranged AMLs show unstable immunophenotype, with most patients presenting a more differentiated phenotype at relapse.
- Cell-Int: a cell–cell interaction assay to identify native membrane protein interactions
A cell interaction assay to study membrane protein interactions in quasi-physiological settings, with multiple applications, from deciphering interaction networks to assessing therapeutic molecules.
- Novel imaging tools to study mitochondrial morphology in Caenorhabditis elegans
This study presents novel genetic tools for live imaging of mitochondrial morphology in the nematode Caenorhabditis elegans, offering insights into mitochondrial dynamics and providing a thorough comparison with existing methods.
Retractions
- Retraction: Chitinase 1 regulates pulmonary fibrosis by modulating TGF-β/SMAD7 pathway via TGFBRAP1 and FOXO3
Chitinase 1 (CHIT1) plays a role in the pathogenesis of pulmonary fibrosis by modulating canonical and noncanonical TGF-β signaling via interaction with TGFBRAP1 and FOXO3. These findings highlight the CHIT1/SMAD7 axis as a potential biomarker and therapeutic target of pulmonary fibrosis.