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    BOLA3 bolA family member 3 [ Homo sapiens (human) ]

    Gene ID: 388962, updated on 9-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.

    BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
    Zhong H, Janer A, Khalimonchuk O, Antonicka H, Shoubridge EA, Barrientos A., Free PMC Article

    11/30/2023
    Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.

    Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.
    Bargagna B, Banci L, Camponeschi F., Free PMC Article

    08/3/2023
    BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.

    BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.
    Wang XF, Lei W, Liu CM, Yang J, Zhu YH.

    05/14/2022
    Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.

    Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
    Saudino G, Suraci D, Nasta V, Ciofi-Baffoni S, Banci L., Free PMC Article

    06/19/2021
    A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.

    A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.
    Nasta V, Suraci D, Gourdoupis S, Ciofi-Baffoni S, Banci L.

    04/24/2021
    BOLA3 can form a functional homodimer capable of engaging in Fe-S cluster transfer

    Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer.
    Wachnowsky C, Rao B, Sen S, Fries B, Howard CJ, Ottesen JJ, Cowan JA., Free PMC Article

    07/18/2020
    this study shows that BOLA3 deficiency controls endothelial metabolism and glycine homeostasis in pulmonary hypertension

    BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.
    Yu Q, Tai YY, Tang Y, Zhao J, Negi V, Culley MK, Pilli J, Sun W, Brugger K, Mayr J, Saggar R, Saggar R, Wallace WD, Ross DJ, Waxman AB, Wendell SG, Mullett SJ, Sembrat J, Rojas M, Khan OF, Dahlman JE, Sugahara M, Kagiyama N, Satoh T, Zhang M, Feng N, Gorcsan J 3rd, Vargas SO, Haley KJ, Kumar R, Graham BB, Langer R, Anderson DG, Wang B, Shiva S, Bertero T, Chan SY., Free PMC Article

    04/11/2020
    Clinical features of BOLA3-associated variant nonketotic hyperglycemia include severe neurodegeneration after a period of normal development.

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
    Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL., Free PMC Article

    04/12/2014
    BOLA3 plays a crucial role in the biogenesis of iron-sulfur clusters.

    Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
    Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H.

    09/28/2013
    Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report]

    Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
    Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH., Free PMC Article

    12/17/2011
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    This study reported that all three human BolA proteins (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted proteins identified with bioinformatics and molecular biology experiments.

    hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence.
    Zhou YB, Cao JB, Wan BB, Wang XR, Ding GH, Zhu H, Yang HM, Wang KS, Zhang X, Han ZG.

    01/21/2010
    BOLA-like proteins are widely conserved from prokaryotes to eukaryotes and may be involved in cell proliferation or cell-cycle regulation.

    Solution structure of a BolA-like protein from Mus musculus.
    Kasai T, Inoue M, Koshiba S, Yabuki T, Aoki M, Nunokawa E, Seki E, Matsuda T, Matsuda N, Tomo Y, Shirouzu M, Terada T, Obayashi N, Hamana H, Shinya N, Tatsuguchi A, Yasuda S, Yoshida M, Hirota H, Matsuo Y, Tani K, Suzuki H, Arakawa T, Carninci P, Kawai J, Hayashizaki Y, Kigawa T, Yokoyama S., Free PMC Article

    11/1/2005
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