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    1. Developmental Biology
    2. Structural Biology and Molecular Biophysics

    Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling

    Samuel C Griffiths, Jia Tan ... Hsin-Yi Henry Ho
    Structure-function analysis of the ROR2 cysteine-rich domain reveals a new mechanism of WNT5A reception at the cell surface and provides new insights into the pathogenic mechanisms of Robinow syndrome-driving ROR2 mutations.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Dedicated chaperones coordinate co-translational regulation of ribosomal protein production with ribosome assembly to preserve proteostasis

    Benjamin Pillet, Alfonso Méndez-Godoy ... Dieter Kressler
    A novel co-translational mechanism continuously adjusts the expression levels of ribosomal proteins Rpl3 and Rpl4 to their consumption during ribosome synthesis by regulating the abundance of their mRNAs.
    1. Medicine
    2. Neuroscience

    AAV-Txnip prolongs cone survival and vision in mouse models of retinitis pigmentosa

    Yunlu Xue, Sean K Wang ... Constance L Cepko
    AAV-Txnip prolongs vision in mouse models of blindness, enhancing lactate catabolism, mitochondrial health, and ATP production in a condition that likely has a limited glucose supply.
    1. Developmental Biology
    2. Genetics and Genomics

    Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

    Samuel Andrew Malone, Georgios E Papadakis ... Paolo Giacobini
    Mouse in vivo and in vitro analysis and human genetic screening highlight the role of anti-Müllerian hormone (AMH) signaling in GnRH neuronal development and function, and identify mutations in AMH and AMHR2 in CHH patients.
    1. Biochemistry and Chemical Biology

    Dual engagement of the nucleosomal acidic patches is essential for deposition of histone H2A.Z by SWR1C

    Alexander S Baier, Nathan Gioacchini ... Craig L Peterson
    Nucleosome recognition by the SWR1C chromatin remodeling enzyme requires both nucleosomal acidic patches.
    1. Cell Biology
    2. Genetics and Genomics

    LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

    Jae Yeon Hwang, Pengxin Chai ... Jean-Ju Chung
    LRRC23 is a radial spoke 3 head component essential for normal sperm motility and fertility in mammals.
    1. Cell Biology
    2. Structural Biology and Molecular Biophysics

    The dimeric Golgi protein Gorab binds to Sas6 as a monomer to mediate centriole duplication

    Agnieszka Fatalska, Emma Stepinac ... David M Glover
    The dual functional protein, Gorab, associates with the Golgi as a dimer but as a monomer with the procentriole cartwheel protein, Sas6, to mediate centriole duplication.
    1. Cell Biology

    A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b

    Shunsuke Saito, Tokiro Ishikawa ... Kazutoshi Mori
    When non-glycosylated, Seipin, which spans the endoplasmic reticulum (ER) membrane twice, forms aggregates in an oligomerization-dependent manner, distorts the shape of the ER, and incorporates SERCA2b via direct interaction, inactivation of which results in induction of ER stress and apoptosis.
    1. Biochemistry and Chemical Biology
    2. Cancer Biology

    Novel RNA and DNA strand exchange activity of the PALB2 DNA binding domain and its critical role for DNA repair in cells

    Jaigeeth Deveryshetty, Thibaut Peterlini ... Sergey Korolev
    Biochemical studies revealed novel property of human tumor suppressor PALB2, which significantly contribute into DNA repair in cells and can be targeted for the development of novel anticancer treatment.
    1. Neuroscience

    Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

    Wu Chen, Zhao-Lin Cai ... Mingshan Xue
    Two genetically distinct Stxbp1 haploinsufficiency mouse models exhibit seizures and impairments in cognitive, psychiatric, and motor functions, representing robust preclinical models of STXBP1 encephalopathy with both construct and face validity.