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    SAMM50 SAMM50 sorting and assembly machinery component [ Homo sapiens (human) ]

    Gene ID: 25813, updated on 12-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Sam50 is Associated with Fragmentation and Alterations in Metabolism in Human and Murine Myotubes.

    Sam50 is Associated with Fragmentation and Alterations in Metabolism in Human and Murine Myotubes.
    Marshall AG, Garza-Lopez E, Vue Z, Vang L, Hinton A.

    08/25/2023
    Loss of Sam50 in hepatocytes induces cardiolipin-dependent mitochondrial membrane remodeling to trigger mtDNA release and liver injury.

    Loss of Sam50 in hepatocytes induces cardiolipin-dependent mitochondrial membrane remodeling to trigger mtDNA release and liver injury.
    Chen L, Dong J, Liao S, Wang S, Wu Z, Zuo M, Liu B, Yan C, Chen Y, He H, Meng Q, Song Z.

    10/29/2022
    The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms.

    The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms.
    Li Z, Shen W, Wu G, Qin C, Zhang Y, Wang Y, Song G, Xiao C, Zhang X, Deng G, Wang R, Wang X., Free PMC Article

    04/9/2022
    Effects of PNPLA3, TM6SF2 and SAMM50 on the development and severity of non-alcoholic fatty liver disease in children.

    Effects of PNPLA3, TM6SF2 and SAMM50 on the development and severity of non-alcoholic fatty liver disease in children.
    Lee KJ, Moon JS, Kim NY, Ko JS.

    04/2/2022
    SAMM50 acts with p62 in piecemeal basal- and OXPHOS-induced mitophagy of SAM and MICOS components.

    SAMM50 acts with p62 in piecemeal basal- and OXPHOS-induced mitophagy of SAM and MICOS components.
    Abudu YP, Shrestha BK, Zhang W, Palara A, Brenne HB, Larsen KB, Wolfson DL, Dumitriu G, Øie CI, Ahluwalia BS, Levy G, Behrends C, Tooze SA, Mouilleron S, Lamark T, Johansen T., Free PMC Article

    10/23/2021
    Sam50, the core component of the sorting and assembly machinery (SAM), is a critical regulator of mitochondrial dynamics and PINK1-Parkin-mediated mitophagy.

    Sam50 Regulates PINK1-Parkin-Mediated Mitophagy by Controlling PINK1 Stability and Mitochondrial Morphology.
    Jian F, Chen D, Chen L, Yan C, Lu B, Zhu Y, Chen S, Shi A, Chan DC, Song Z.

    11/2/2019
    The authors results demonstrate that SNP in the SAMM50 gene is significantly associated with the presence and severity of NAFLD in a Korean populations.

    Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population.
    Chung GE, Lee Y, Yim JY, Choe EK, Kwak MS, Yang JI, Park B, Lee JE, Kim JA, Kim JS., Free PMC Article

    11/10/2018
    Findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry.

    Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population.
    Larrieta-Carrasco E, Flores YN, Macías-Kauffer LR, Ramírez-Palacios P, Quiterio M, Ramírez-Salazar EG, León-Mimila P, Rivera-Paredez B, Cabrera-Álvarez G, Canizales-Quinteros S, Zhang ZF, López-Pérez TV, Salmerón J, Velázquez-Cruz R., Free PMC Article

    09/29/2018
    Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.

    Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.
    Sastri M, Darshi M, Mackey M, Ramachandra R, Ju S, Phan S, Adams S, Stein K, Douglas CR, Kim JJ, Ellisman MH, Taylor SS, Perkins GA., Free PMC Article

    05/26/2018
    SAMM50 affects the Drp1-dependent mitochondrial morphology.

    SAMM50 Affects Mitochondrial Morphology through the Association of Drp1 in Mammalian Cells.
    Liu S, Gao Y, Zhang C, Li H, Pan S, Wang X, Du S, Deng Z, Wang L, Song Z, Chen S.

    05/6/2017
    downregulation of SAM50 in BCR-ABL-expressing, but not normal CD34(+) human hematopoietic stem and progenitor cells (HSPCs) caused a significant decrease in growth, colony formation, and replating capacity.

    Depletion of SAM50 Specifically Targets BCR-ABL-Expressing Leukemic Stem and Progenitor Cells by Interfering with Mitochondrial Functions.
    Capala ME, Pruis M, Vellenga E, Schuringa JJ.

    11/19/2016
    the integrity of MICOS and its efficient interaction with Sam50 are indispensable for cristae organization, which is relevant to mitochondrial function.

    Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.
    Ding C, Wu Z, Huang L, Wang Y, Xue J, Chen S, Deng Z, Wang L, Song Z, Chen S., Free PMC Article

    10/29/2016
    Polymorphisms in the SAMM50 and PARVB genes in addition to those in the PNPLA3 gene were observed to be associated with the development and progression of NAFLD.

    Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
    Kitamoto T, Kitamoto A, Yoneda M, Hyogo H, Ochi H, Nakamura T, Teranishi H, Mizusawa S, Ueno T, Chayama K, Nakajima A, Nakao K, Sekine A, Hotta K.

    08/31/2013
    The study describes a novel role of SAM50 in maintaining the mitochondrial shape and the morphology of cristae.

    Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes.
    Ott C, Ross K, Straub S, Thiede B, Götz M, Goosmann C, Krischke M, Mueller MJ, Krohne G, Rudel T, Kozjak-Pavlovic V., Free PMC Article

    04/14/2012
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    09/15/2010
    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
    Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS, Mooser V., Free PMC Article

    08/12/2009
    mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import

    The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
    Xie J, Marusich MF, Souda P, Whitelegge J, Capaldi RA.

    01/21/2010
    The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved.

    Conserved roles of Sam50 and metaxins in VDAC biogenesis.
    Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T., Free PMC Article

    01/21/2010
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