CASS4 is a genetic risk factor for #Alzheimers disease but remains understudied in the brain. In @jem.org, @lukensjohnr.bsky.social et al identify CASS4 as a critical regulator of amyloid β plaque compaction, microglial mobilization to damage, & focal adhesion signaling. rupress.org/jem/article/...
Rockefeller University Press
Rockefeller University Press
@rupress.org
We publish the scientific journals @jcb.org, @jem.org, @jgp.org, @jhumimmunity.org, and co-publish @lsajournal.org. Visit our journals at https://rupress.org
632 followers89 following1.2K posts
📽️ See a short video summary by the first author, Adeline E. Walsh: youtu.be/KXdNLjwme0I
In @jhumimmunity.org, Mørk, Jensen, Mogensen et al. investigated neutralizing IFN-I #autoantibodies in centenarians from Denmark, Colombia, Australia, & Japan and found that the prevalence of auto-Abs reaches a plateau in centenarians and declines in Japanese and females rupress.org/jhi/article/...
Commentary @jgp.org: A new study by @talongden.bsky.social et al. (rupress.org/jgp/article/...) reveals reduced function of brain capillary pericyte KATP channels in a mouse model of #Alzheimers disease. William F. Jackson discusses the questions raised by the study: rupress.org/jgp/article/...
In @jem.org, Ai-Ping Cao, Jun-Cheng Li, Rui Wang et al. reveal that the Vanin-pantethine-cholesterol axis acts as a metabolic checkpoint controlling #DendriticCell activation in autoimmune #inflammation. rupress.org/jem/article/... #Autoimmunity #Psoriasis
Viewpoint @jcb.org: Zhiqi Tian, Yujie Sun, and Jiajie Diao discuss how #mitochondria supply protons to acidify #lysosomes through direct membrane contacts, and consider implications for mitochondrial quality control, aging, and disease therapeutics. rupress.org/jcb/article/... #Biophysics
📰 #PressRelease: Researchers have discovered that the vitamin derivative pantethine prevents the development of #psoriasis in mice and helps alleviate patient symptoms in a small-scale human trial. www.eurekalert.org/news-release... See the original @jem.org study: rupress.org/jem/article-...
In @jhumimmunity.org, Santiago et al. utilize a large, limited, de-identified dataset to explore characteristics of patients with APDS. Hypertension was found in 28.5%. There was variable usage of leniolisib- and leniolisib-treated patients had lower odds of hypertension. rupress.org/jhi/article/...
Despite the changes brought by technological advances, Susan King, executive director of RUP, says that collaborative human relationships are at the heart of publishing more than ever before. Read the interview in @rockefeller.edu Science News 👉 www.rockefeller.edu/news/40794-h...
In @jhumimmunity.org, Ahuja et al. describe three siblings with an #immunodeficiency who have a novel homozygous synonymous variant in DOCK2 that creates a defect in mRNA splicing, resulting in a frameshift and loss of DOCK2 protein expression rupress.org/jhi/article/... #InbornErrorsOfImmunity
New Perspective @jcb.org: Gilles Hickson @cra-chusj.bsky.social revives a material-processing view of #cytokinesis, asking how a shrinking membrane–cortex interface sustains closure despite continued material inflow. rupress.org/jcb/article/... #CellCycle #CellDivision #Cytoskeleton
In @jhumimmunity.org, Belaid et al report the largest single-country cohort of RAG1/2 deficiency in Algeria. 2 founder variants explain 77% of cases, yet identical genotypes produced 3 different phenotypes. Mortality (89%) reflected transplant access, not diagnostic delay rupress.org/jhi/article/...
In @jem.org, Marwa Saad, Angelina Bilate, @danmucida.bsky.social et al. show that colorectal tumors with distinct metastatic potential trigger divergent early T cell responses. rupress.org/jem/article/... #SolidTumors #MucosalImmunology #TumorImmunology #ColonCancer #TCells
In @jcb.org, Kaade, Ohkura et al. identify Sle as an integral component of the spindle matrix, & the Gwl kinase as a spindle envelope protein in #Drosophila #oocytes. They work together to ensure proper structure & function of the meiotic spindle in oocytes. rupress.org/jcb/article/...
In @jhumimmunity.org, @romberglab.bsky.social et al. describe recurrent, sterile inflammatory responses to surgery and trauma in a patient with a heterozygous, truncating NFKB1 variant. This case highlights the prospect of a targeted, personalized immunomodulatory therapy rupress.org/jhi/article/...
In @jhumimmunity.org, Irabu, Shimizu et al. identify low-VAF #KRAS variants in two children with systemic #lupus erythematosus and confirms both variants in independent blood samples. rupress.org/jhi/article/... #SLE
New work @jcb.org by Faria, Janody et al. @i3suporto.bsky.social reveals that P-#cadherin engagement and FAK activate mechanosensitive proliferation in premalignant Src-activated cells, highlighting a key role for adhesion-mediated signaling before malignant progression. rupress.org/jcb/article/...
In @jcb.org: Using microneedle manipulation, Mullin-Bernstein et al. @dumontlabucsf.bsky.social show that #microtubule bundles of the mammalian #anaphase spindle are mechanically coupled, transmitting force both laterally and between spindle poles. rupress.org/jcb/article/... #Mitosis #CellDivision
“JGP continues to champion the work after publication, helping its significance reach the broader scientific community.” — Chieko Koike, Ritsumeikan University Learn more about @jgp.org: hubs.la/Q04t83Z10
Read Dr. Koike and colleagues’ JGP article, “A mechanism for pathological oscillations in mouse retinal ganglion cells in a model of night blindness Open Access.” hubs.la/Q04t83Z60 Find more commentary in Research News coverage, “The origins of oscillations.” hubs.la/Q04t83WG0
Scientists co-led by @stjuderesearch.bsky.social have identified a potential therapeutic vulnerability in some forms of #osteosarcoma.: www.stjude.org/media-resour... See the original @jem.org study by @adurbinlab.bsky.social @junqilab.bsky.social and colleagues here: rupress.org/jem/article/...
In @jhumimmunity.org, @macattacklab.bsky.social review the molecular, immunologic & clinical features of #TLR8 gain-of-function syndrome. They review findings from patients w/ mosaic & germline disease & integrate knowledge of key structural components of the TLR8 protein rupress.org/jhi/article/...
Stevenson et al. (rupress.org/jem/article/...) highlight the functional consequence of α-syn aggregates at the brain border, uncovering their active role in reshaping lymphatic integrity and the neuroimmune macroenvironment. Insights @jem.org by Kim, Munkhbat & Tischfield rupress.org/jem/article/...
In @jcb.org, @maggieutgaard.bsky.social, @myosincity.bsky.social, @pwoakes.bsky.social et al. show that #septins accumulate at the cortex in response to mechanical cues, where they serve to buffer mechanical forces that act on the #nucleus. rupress.org/jcb/article/... #Cytoskeleton #Mechanobiology
See the related study from Mayca Pozo et al. @septinlab.bsky.social: rupress.org/jcb/article/...
New work in @jcb.org from @septinlab.bsky.social reshapes #septin biology: septins relieve #actomyosin forces, shielding #actin & the #nucleus from mechanical damage. SEPT9 overexpression may promote tumor cell survival by limiting genomic damage during #metastasis. rupress.org/jcb/article/...
See the related study from @maggieutgaard.bsky.social, @myosincity.bsky.social, @pwoakes.bsky.social et al. rupress.org/jcb/article/...
Adults with IEI and their caregivers face a substantial occupational burden. In @jhumimmunity.org, a nationwide study in Italy highlights work impairment, healthcare demands and unmet workplace needs and identifies actionable targets to support work participation. rupress.org/jhi/article/...
In @jem.org, Zhang et al. show that Ag-independent IgM BCR signaling restrains human IgM PC differentiation & persistence. Disruption of SYK enhances IgM PC output & persistence, which can be leveraged to improve the durability of engineered IgM-secreting PCs. rupress.org/jem/article/...
In @jcb.org, Huizar, Ewald et al. show that E-#cadherin promotes #BreastCancer cell survival and #metastasis by suppressing mitochondrial ROS. The cytoplasmic domain of E-cadherin is essential, while extracellular domains, and adhesion and catenin interactions are not. rupress.org/jcb/article/...
Researchers at the University of Osaka uncover early changes seen in ANCA-associated glomerulonephritis and investigate a treatment to stop it in its tracks: www.med.osaka-u.ac.jp/eng/activiti... See the original @jem.org study here: rupress.org/jem/article/...
In @jhumimmunity.org, McTaggart, Lim, Amarnath, Carpenter, Laurence et al. report on a #CTLA4 homozygous variant identified in a 16-year-old male. CTLA4 expression was severely diminished in CD4+ T cells and T regulatory cells. rupress.org/jhi/article/... #homozygous #PID #checkpoints #Tregs
In @jhumimmunity.org: Using CRISPR/Cas9, Webbers, Rojas-Rodriguez, Kuijpers et al. show that disruption of kindlin-3 in cultured #neutrophils largely recapitulates the LAD-III phenotype but some effector functions remain upon stimulation without intact kindlin-3. rupress.org/jhi/article/...
In @jcb.org, Jain, Izadi-Seitz and Ji et al. identify mechanisms & cellular functions of the N-Ank protein Ankrd24 in shaping nerve cells by coordinating remodeling of membrane topologies and cytoskeletal structures, shedding light on proper neuronal arbor development. rupress.org/jcb/article/...
Spotlight @jcb.org: Clegg, @shawnferguson.bsky.social et al. (doi.org/10.1083/jcb....) show that PIKfyve inhibition swells #lysosomes, traps Rab #GTPases, and activates #LRRK2 without the GABARAP–CASM pathway. @suzannepfeffer.bsky.social discusses the findings: rupress.org/jcb/article/...
In @jcb.org, Clegg, @shawnferguson.bsky.social et al. @yalecellbiology.bsky.social show that LRRK2 integrates distinct lysosomal stress signals through stimulus-specific combinations of interactions with Rab GTPases and GABARAP. rupress.org/jcb/article/... #Lysosomes #CellSignaling #Disease
In @jem.org, Spinella, Natoli, Monticelli et al. linked a #Crohns disease risk allele regulating SKAP2 expression to #Tcell function. SKAP2 enhances cell adhesion while suppressing migration. Sustained TCR signaling triggers its proteolytic cleavage to enable migration. rupress.org/jem/article/...
In @jcb.org, Quinn, @carajgottardi.bsky.social et al. show how force-dependent phosphorylations on the cell–cell adhesive scaffold, α-catenin, drive apical junction enrichment and barrier function, and how loss of this mechanism leads to hydrocephalus. rupress.org/jcb/article/...
In @jhumimmunity.org, the Jeffrey Modell Foundation’s “Jeffrey’s Insights” next-generation sequencing (NGS) program demonstrates that, for trained clinical immunologists, NGS yields significant diagnostic and clinical value, improving patient care and outcomes. rupress.org/jhi/article/... #IEIs
In @jem.org, Delahunty et al. identify that EP300 controls the growth of AKT-dysregulated #osteosarcoma cells by regulating expression of state-specific genetic dependencies. AKT inhibitors synergize with EP300 degraders to suppress osteosarcoma growth in vitro & in vivo. rupress.org/jem/article/...
In @jcb.org, Vandal et al. @moseleylab.bsky.social combine experimental and mathematical approaches to define how time-dependent accumulation of fission yeast cyclin Cdc13 occurs through constant synthesis of a stable protein countered by dilution through cell growth. rupress.org/jcb/article/...
In @jhumimmunity.org, Ali, Alazami, and Al-Mousa describe a novel case of human BCL10 deficiency with a 13-year follow-up after hematopoietic stem cell transplantation. Their findings expand the clinical and genetic spectrum of this ultra-rare immunodeficiency rupress.org/jhi/article/... #HSCT
In @jem.org, Stevenson, Rustenhoven et al. @aucklanduni.bsky.social show that aggregated α-synuclein at CNS borders drives inflammation and impairs lymphatic function, positioning meningeal immunity as a driver of clearance deficits in #Parkinsons disease. rupress.org/jem/article/...
In @jcb.org: Faithful #mitosis depends on precise regulation of #separase. Learn how Sak1/LKB1 activates separase and promotes its nuclear localization. Vaquero-Pelaz, Queralt et al. reveal a novel regulatory mechanism conserved from yeast to humans. rupress.org/jcb/article/... #CellCycle
See a short video summary by the first author, David Vaquero-Pelaz: youtu.be/H8zA2iFOvMA
A team at the University of Basel has identified a molecular switch that controls how cells ensure that the right cargo ends up in the right recycling vesicle. www.eurekalert.org/news-release... See the @jcb.org article from @spanglab.bsky.social @biozentrum.unibas.ch: rupress.org/jcb/article/...
In @jhumimmunity.org, Sophia Marie Armbruster, Bodo Grimbacher et al. review all published patients with NFKB1 variants. Variants were divided into subcohorts & classified into distinct variant classes, & correlative analyses searched for genotype–phenotype correlations rupress.org/jhi/article/...
In @jcb.org, Hailey Q. Wang, Demetria G. Fortson, Eavan D. Burton, Erin L. Barnhart et al. @columbiauniversity.bsky.social measure and manipulate mitochondrial dynamics in #neurons in the #Drosophila visual system. rupress.org/jcb/article/... #Mitochondria #Neuroscience
How does aging drive #oocyte #aneuploidy? New work in @jcb.org from the @binyammogessie.bsky.social, Fachinetti, and Redemann labs links reduced CENP-A/CENP-C to high rates of chromosome segregation errors during maternal #aging. rupress.org/jcb/article/... #Development #Cytoskeleton #Celldivision