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Medical Research

  • Plasmalogen loss caused by remodeling deficiency in mitochondria
    Open Access
    Plasmalogen loss caused by remodeling deficiency in mitochondria

    Tomohiro Kimura, Atsuko K Kimura, Mindong Ren, Vernon Monteiro, Yang Xu, Bob Berno, Michael Schlame, Richard M Epand

    Tomohiro Kimura ... Richard M Epand

    Published 21 August 2019

    31P NMR unveils cell type–dependent losses of plasmalogen in the chain remodeling–deficient brain, liver, kidney, and lymphoblast in association with aberrant mitochondrial function and morphology.

  • Human organotypic brain slice culture: a novel framework for environmental research in neuro-oncology
    Open Access
    Human organotypic brain slice culture: a novel framework for environmental research in neuro-oncology

    Vidhya M Ravi, Kevin Joseph, Julian Wurm, Simon Behringer, Nicklas Garrelfs, Paolo d’Errico, Yashar Naseri, Pamela Franco, Melanie Meyer-Luehmann, Roman Sankowski, Mukesch Johannes Shah, Irina Mader, Daniel Delev, Marie Follo, Jürgen Beck, Oliver Schnell, Ulrich G Hofmann, Dieter Henrik Heiland

    Vidhya M Ravi ... Dieter Henrik Heiland

    Published 27 June 2019

    Therapeutically resected, adult brain segments were maintained and characterized for an extended period to study glioblastoma progression and treatment in its almost natural environment.

  • An N-terminal–truncated isoform of FAM134B (FAM134B-2) regulates starvation-induced hepatic selective ER-phagy
    Open Access
    An N-terminal–truncated isoform of FAM134B (FAM134B-2) regulates starvation-induced hepatic selective ER-phagy

    Shohei Kohno, Yuji Shiozaki, Audrey L Keenan, Shinobu Miyazaki-Anzai, Makoto Miyazaki

    Shohei Kohno ... Makoto Miyazaki

    Published 17 May 2019

    This study has identified a novel truncated isoform of FAM134B (FAM134B-2) that regulates starvation-induced selective ER-phagy of secretory proteins such as ApoCIII through the activation of C/EBPβ.

  • Functional inhibition of acid sphingomyelinase disrupts infection by intracellular bacterial pathogens
    Open Access
    Functional inhibition of acid sphingomyelinase disrupts infection by intracellular bacterial pathogens

    Chelsea L Cockburn, Ryan S Green, Sheela R Damle, Rebecca K Martin, Naomi N Ghahrai, Punsiri M Colonne, Marissa S Fullerton, Daniel H Conrad, Charles E Chalfant, Daniel E Voth, Elizabeth A Rucks, Stacey D Gilk, Jason A Carlyon

    Chelsea L Cockburn ... Jason A Carlyon

    Published 22 March 2019

    Many intracellular pathogens hijack cholesterol. Inhibiting acid sphingomyelinase alters cholesterol traffic to target different intracellular bacteria, signifying a host-directed approach for treating infectious disease.

  • <em>PISD</em> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
    Open Access
    PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

    Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh, Care4Rare Canada Consortium, Jean E Vance, Steven M Claypool, A Micheil Innes, Timothy E Shutt

    Tian Zhao ... Timothy E Shutt

    Published 11 March 2019

    This work demonstrates that pathogenic variants in PISD cause mitochondrial disease and suggests a novel mechanistic link whereby impaired lipid content in the inner mitochondrial membrane alters the activity of inner mitochondrial membrane proteases.

  • Innate extracellular vesicles from melanoma patients suppress β-catenin in tumor cells by miRNA-34a
    Open Access
    Innate extracellular vesicles from melanoma patients suppress β-catenin in tumor cells by miRNA-34a

    Jung-Hyun Lee, Jochen Dindorf, Martin Eberhardt, Xin Lai, Christian Ostalecki, Nina Koliha, Stefani Gross, Katja Blume, Heiko Bruns, Stefan Wild, Gerold Schuler, Julio Vera, Andreas S Baur

    Jung-Hyun Lee ... Andreas S Baur

    Published 7 March 2019

    Operated cancer patients develop elevated levels of extracellular vesicles (EVs) in their blood stream, suppressing cancer cells through miRNA-34a.

  • Mucosa-associated microbiota drives pathogenic functions in IBD-derived intestinal iNKT cells
    Open Access
    Mucosa-associated microbiota drives pathogenic functions in IBD-derived intestinal iNKT cells

    Claudia Burrello, Gabriella Pellegrino, Maria Rita Giuffrè, Giulia Lovati, Ilaria Magagna, Alice Bertocchi, Fulvia Milena Cribiù, Francesca Boggio, Fiorenzo Botti, Elena Trombetta, Laura Porretti, Antonio Di Sabatino, Maurizio Vecchi, Maria Rescigno, Flavio Caprioli, Federica Facciotti

    Claudia Burrello ... Federica Facciotti

    Published 13 February 2019

    Pro-inflammatory iNKT cells are enriched in IBD patients’ lamina propria. Exposure to the mucosa-associated microbiota drives their activation, inducing pathogenic activities against the epithelium.

  • Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund–Thomson syndrome
    Open Access
    Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund–Thomson syndrome

    Hideki Yokoyama, Daniel Moreno-Andres, Susanne A Astrinidis, Yuqing Hao, Marion Weberruss, Anna K Schellhaus, Hongqi Lue, Yoshikazu Haramoto, Oliver J Gruss, Wolfram Antonin

    Hideki Yokoyama ... Wolfram Antonin

    Published 4 February 2019

    RECQL4, which is mutated in the Rothmund–Thomson syndrome characterized by premature aging and cancer susceptibility, is a microtubule-associated protein required for mitotic chromosome alignment.

  • Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum
    Open Access
    Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum

    Yuichi Abe, Masanori Honsho, Ryota Itoh, Ryoko Kawaguchi, Masashi Fujitani, Kazushirou Fujiwara, Masaaki Hirokane, Takashi Matsuzaki, Keiko Nakayama, Ryohei Ohgi, Toshihiro Marutani, Keiichi I Nakayama, Toshihide Yamashita, Yukio Fujiki

    Yuichi Abe ... Yukio Fujiki

    Published 3 December 2018

    Peroxisome biogenesis deficiency leads to increased expression of BDNF and of a truncated form of the BDNF receptor in the cerebellum, attenuates BDNF-TrkB signaling, and results in malformation of the cerebellum.

  • Extracellular vesicles from mature dendritic cells (DC) differentiate monocytes into immature DC
    Open Access
    Extracellular vesicles from mature dendritic cells (DC) differentiate monocytes into immature DC

    Stefan Schierer, Christian Ostalecki, Elisabeth Zinser, Ricarda Lamprecht, Bianca Plosnita, Lena Stich, Jan Dörrie, Manfred B Lutz, Gerold Schuler, Andreas S Baur

    Stefan Schierer ... Andreas S Baur

    Published 3 December 2018

    Mature dendritic cells (DC) secrete substantial amounts of vesicles that are primarily ingested by monocytes, leading to differentiation processes in these target cells towards monocyte-derived DC.

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