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  1. Article ; Online: SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

    Bulthuis, Elianne P / Adjobo-Hermans, Merel J W / de Potter, Bastiaan / Hoogstraten, Saskia / Wezendonk, Lisanne H T / Tutakhel, Omar A Z / Wintjes, Liesbeth T / van den Heuvel, Bert / Willems, Peter H G M / Kamsteeg, Erik-Jan / Gozalbo, M Estela Rubio / Sallevelt, Suzanne C E H / Koudijs, Suzanne M / Nicolai, Joost / de Bie, Charlotte I / Hoogendijk, Jessica E / Koopman, Werner J H / Rodenburg, Richard J

    Biochimica et biophysica acta. Molecular basis of disease

    2023  Volume 1869, Issue 8, Page(s) 166808

    Abstract: Ionic calcium ( ... ...

    Abstract Ionic calcium (Ca
    MeSH term(s) Humans ; Calcium/metabolism ; Calcium Channels/genetics ; Calcium Channels/metabolism ; Ion Transport ; Mitochondria/genetics ; Mitochondria/metabolism ; Muscles/metabolism
    Chemical Substances Calcium (SY7Q814VUP) ; Calcium Channels ; SMDT1 protein, human
    Language English
    Publishing date 2023-07-16
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2023.166808
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

    Bulthuis, Elianne P. / Adjobo-Hermans, Merel J.W. / de Potter, Bastiaan / Hoogstraten, Saskia / Wezendonk, Lisanne H.T. / Tutakhel, Omar A.Z. / Wintjes, Liesbeth T. / van den Heuvel, Bert / Willems, Peter H.G.M. / Kamsteeg, Erik Jan / Rubio Gozalbo, M.E. / Sallevelt, Suzanne C.E.H. / Koudijs, Suzanne M. / Nicolai, Joost / de Bie, Charlotte I. / Hoogendijk, Jessica E. / Koopman, Werner J.H. / Rodenburg, Richard J.

    Biochimica et Biophysica Acta - Molecular Basis of Disease

    2023  Volume 1869, Issue 8

    Abstract: Ionic calcium (Ca2+) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca2+ uniporter (MCU), which is regulated by EMRE (essential MCU regulator) ...

    Abstract Ionic calcium (Ca2+) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca2+ uniporter (MCU), which is regulated by EMRE (essential MCU regulator) encoded by the SMDT1 (single-pass membrane protein with aspartate rich tail 1) gene. This work presents the genetic, clinical and cellular characterization of two patients harbouring SMDT1 variants and presenting with muscle problems. Analysis of patient fibroblasts and complementation experiments demonstrated that these variants lead to absence of EMRE protein, induce MCU subcomplex formation and impair mitochondrial Ca2+ uptake. However, the activity of oxidative phosphorylation enzymes, mitochondrial morphology and membrane potential, as well as routine/ATP-linked respiration were not affected. We hypothesize that the muscle-related symptoms in the SMDT1 patients result from aberrant mitochondrial Ca2+ uptake.
    Keywords Calcium ; EMRE ; MCU ; Mitochondria ; Muscle involvement ; SMDT1
    Language English
    Publishing country nl
    Document type Article ; Online
    ZDB-ID 60-7
    ISSN 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
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    In stock of ZB MED Cologne/Königswinter

    Uc I Zs.247: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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