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    PMP2 peripheral myelin protein 2 [ Homo sapiens (human) ]

    Gene ID: 5375, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.

    PMP2/FABP8 induces PI(4,5)P(2)-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.
    Abe M, Makino A, Murate M, Hullin-Matsuda F, Yanagawa M, Sako Y, Kobayashi T.

    02/19/2022
    Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.

    Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
    Uusitalo M, Klenow MB, Laulumaa S, Blakeley MP, Simonsen AC, Ruskamo S, Kursula P.

    12/25/2021
    Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.

    Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
    Geroldi A, Prada V, Veneri F, Trevisan L, Origone P, Grandis M, Schenone A, Gemelli C, Lanteri P, Fossa P, Mandich P, Bellone E.

    06/5/2021
    Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.

    Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
    Ruskamo S, Krokengen OC, Kowal J, Nieminen T, Lehtimäki M, Raasakka A, Dandey VP, Vattulainen I, Stahlberg H, Kursula P., Free PMC Article

    01/16/2021
    Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

    Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
    Palaima P, Chamova T, Jander S, Mitev V, Van Broeckhoven C, Tournev I, Peeters K, Jordanova A., Free PMC Article

    05/2/2020
    High PMP2 expression is associated with melanoma cell invasion.

    The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion.
    Graf SA, Heppt MV, Wessely A, Krebs S, Kammerbauer C, Hornig E, Strieder A, Blum H, Bosserhoff AK, Berking C.

    07/20/2019
    These findings demonstrate that altered biophysical properties and functional dynamics of P2 may cause myelin defects in Charcot-Marie-Tooth disease 1 patients.

    Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2.
    Ruskamo S, Nieminen T, Kristiansen CK, Vatne GH, Baumann A, Hallin EI, Raasakka A, Joensuu P, Bergmann U, Vattulainen I, Kursula P., Free PMC Article

    02/9/2019
    The structural characterization of the F57A mutant of P2 which shows changes in the portal region and helix alpha2 and an unfolded status upon lipid bilayer binding. Further results suggest a central role for Phe57 in regulating the opening of the portal region in human P2, and the F57A mutation disturbs dynamic cross-correlation networks in the portal region of P2.

    Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins.
    Laulumaa S, Nieminen T, Raasakka A, Krokengen OC, Safaryan A, Hallin EI, Brysbaert G, Lensink MF, Ruskamo S, Vattulainen I, Kursula P., Free PMC Article

    12/22/2018
    SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients.

    Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
    Zhao X, Jiang MM, Yan YZ, Liu L, Xie YZ, Li XB, Hu ZM, Zi XH, Xia K, Tang BS, Zhang RX., Free PMC Article

    08/18/2018
    Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie- Tooth disease type 1.

    De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
    Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS., Free PMC Article

    05/13/2017
    A fully deuterated sample of myelin P2 protein was produced identifying the neutron crystal structure.

    Production, crystallization and neutron diffraction of fully deuterated human myelin peripheral membrane protein P2.
    Laulumaa S, Blakeley MP, Raasakka A, Moulin M, Härtlein M, Kursula P., Free PMC Article

    09/17/2016
    This report might expand the genetic and clinical features of Charcot-Marie-Tooth disease and a further mechanism study will enhance our understanding of PMP2-associated peripheral neuropathy.

    A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
    Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO., Free PMC Article

    07/30/2016
    The structure of human P2 refined at the ultrahigh resolution of 0.93 A allows detailed structural analyses, including the full organization of an internal hydrogen-bonding network.

    Atomic resolution view into the structure-function relationships of the human myelin peripheral membrane protein P2.
    Ruskamo S, Yadav RP, Sharma S, Lehtimäki M, Laulumaa S, Aggarwal S, Simons M, Bürck J, Ulrich AS, Juffer AH, Kursula I, Kursula P., Free PMC Article

    09/6/2014
    the structure and function of the P2 protein from human myelin, which is able to bind both monomeric lipids inside its cavity and membrane surfaces

    Structural and functional characterization of human peripheral nervous system myelin protein P2.
    Majava V, Polverini E, Mazzini A, Nanekar R, Knoll W, Peters J, Natali F, Baumgärtel P, Kursula I, Kursula P., Free PMC Article

    06/18/2011
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