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    SLC25A1 solute carrier family 25 member 1 [ Homo sapiens (human) ]

    Gene ID: 6576, updated on 6-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.

    Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.
    Zhang R, Peng X, Du JX, Boohaker R, Estevao IL, Grajeda BI, Cox MB, Almeida IC, Lu W., Free PMC Article

    11/18/2023
    The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.

    The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.
    Fernandez-Fuente G, Overmyer KA, Lawton AJ, Kasza I, Shapiro SL, Gallego-Muñoz P, Coon JJ, Denu JM, Alexander CM, Puglielli L., Free PMC Article

    09/13/2023
    Targeting Citrate Carrier (CIC) in Inflammatory Macrophages as a Novel Metabolic Approach in COVID-19 Patients: A Perspective.

    Targeting Citrate Carrier (CIC) in Inflammatory Macrophages as a Novel Metabolic Approach in COVID-19 Patients: A Perspective.
    Vakili ME, Saleh Z, Kabelitz D, Kalantar K.

    10/29/2022
    Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.

    Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.
    Rigby MJ, Orefice NS, Lawton AJ, Ma M, Shapiro SL, Yi SY, Dieterich IA, Frelka A, Miles HN, Pearce RA, Yu JPJ, Li L, Denu JM, Puglielli L., Free PMC Article

    04/30/2022
    Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

    Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
    Al-Futaisi A, Ahmad F, Al-Kasbi G, Al-Thihli K, Koul R, Al-Maawali A.

    06/5/2021
    Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

    Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
    Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H., Free PMC Article

    05/1/2021
    Mitochondrial SLC25 Carriers: Novel Targets for Cancer Therapy.

    Mitochondrial SLC25 Carriers: Novel Targets for Cancer Therapy.
    Rochette L, Meloux A, Zeller M, Malka G, Cottin Y, Vergely C., Free PMC Article

    02/20/2021
    SLC25A1 plays a key role in maintaining the mitochondrial pool of citrate and redox balance in cancer stem cells (CSCs), whereas its inhibition leads to reactive oxygen species build-up thereby inhibiting the self-renewal capability of CSCs.

    The mitochondrial citrate carrier, SLC25A1, drives stemness and therapy resistance in non-small cell lung cancer.
    Fernandez HR, Gadre SM, Tan M, Graham GT, Mosaoa R, Ongkeko MS, Kim KA, Riggins RB, Parasido E, Petrini I, Pacini S, Cheema A, Varghese R, Ressom HW, Zhang Y, Albanese C, Üren A, Paige M, Giaccone G, Avantaggiati ML., Free PMC Article

    09/21/2019
    High expression of mitochondrial citrate transporter was associated with invasion and advanced tumor stage across many human cancers.

    Extracellular Citrate Affects Critical Elements of Cancer Cell Metabolism and Supports Cancer Development In Vivo.
    Mycielska ME, Dettmer K, Rümmele P, Schmidt K, Prehn C, Milenkovic VM, Jagla W, Madej GM, Lantow M, Schladt M, Cecil A, Koehl GE, Eggenhofer E, Wachsmuth CJ, Ganapathy V, Schlitt HJ, Kunzelmann K, Ziegler C, Wetzel CH, Gaumann A, Lang SA, Adamski J, Oefner PJ, Geissler EK.

    06/15/2019
    SLC25A1 mutations might be associated with mitochondrial complex V deficiency and should be considered in the differential diagnosis of mitochondrial respiratory chain defects.

    A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
    Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS.

    03/9/2019
    SLC25A1 and ACLY upregulation suggests that metabolic reprogramming in Behcet's syndrome involves the citrate pathway dysregulation.

    New Insights into Behçet's Syndrome Metabolic Reprogramming: Citrate Pathway Dysregulation.
    Santarsiero A, Leccese P, Convertini P, Padula A, Abriola P, D'Angelo S, Bisaccia F, Infantino V., Free PMC Article

    12/22/2018
    tested the expression specificity of the Cochlin-tomoprotein by testing blood and CSF samples. The concentration was below the detection limit (0.2 ng/ml) in 38 of the 40 blood, and 14 of the 19 CSF samples

    Study of formation of green eggshell color in ducks through global gene expression.
    Xu FQ, Li A, Lan JJ, Wang YM, Yan MJ, Lian SY, Wu X., Free PMC Article

    03/10/2018
    Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

    Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
    Majd H, King MS, Smith AC, Kunji ERS.

    03/10/2018
    this study shows increased expression of SLC25A1 gene in cells from children with Down syndrome

    The contribution of the citrate pathway to oxidative stress in Down syndrome.
    Convertini P, Menga A, Andria G, Scala I, Santarsiero A, Castiglione Morelli MA, Iacobazzi V, Infantino V., Free PMC Article

    05/20/2017
    Altered metabolism in 22qDS reflected a critical role for the haploinsufficiency of the mitochondrial citrate transporter SLC25A1, further enhanced by HIF-1alpha, MYC, and metabolite controls.

    Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.
    Napoli E, Tassone F, Wong S, Angkustsiri K, Simon TJ, Song G, Giulivi C., Free PMC Article

    12/19/2015
    we report for the first time on a patient with a genetically confirmed diagnosis of SLC25A1 deficiency and treatment with either malate or citrate

    Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
    Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R.

    05/16/2015
    SLC25A1 has a key role in TNF-alpha and IFNgamma induced inflammation and is induced at the transcriptional level by these two inflammation mediators cytokines.

    A key role of the mitochondrial citrate carrier (SLC25A1) in TNFα- and IFNγ-triggered inflammation.
    Infantino V, Iacobazzi V, Menga A, Avantaggiati ML, Palmieri F., Free PMC Article

    01/17/2015
    We report for the first time a patient with a mitochondrial citrate carrier deficiency. Our data support a role for citric acid cycle defects in agenesis of corpus callosum

    Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
    Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O.

    09/7/2013
    Compares and contrasts all the known human SLC25A* genes and includes functional information.

    The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    Palmieri F.

    07/2/2013
    Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

    Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
    Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS., Free PMC Article

    06/8/2013
    The mitochondrial citrate carrier (CIC) is present and regulates insulin secretion by human male gamete.

    The mitochondrial citrate carrier (CIC) is present and regulates insulin secretion by human male gamete.
    Cappello AR, Guido C, Santoro A, Santoro M, Capobianco L, Montanaro D, Madeo M, Andò S, Dolce V, Aquila S.

    07/14/2012
    muscular symptoms of CTP deficiency respond to creatine supplementation

    Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
    Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P.

    05/26/2012
    The mitochondrial citrate carrier: a new player in inflammation

    The mitochondrial citrate carrier: a new player in inflammation.
    Infantino V, Convertini P, Cucci L, Panaro MA, Di Noia MA, Calvello R, Palmieri F, Iacobazzi V.

    11/26/2011
    The results of molecular cloning of a citrate transporter from human normal prostate epithelial PNT2-C2 cells, is reported.

    Molecular origin of plasma membrane citrate transporter in human prostate epithelial cells.
    Mazurek MP, Prasad PD, Gopal E, Fraser SP, Bolt L, Rizaner N, Palmer CP, Foster CS, Palmieri F, Ganapathy V, Stühmer W, Djamgoz MB, Mycielska ME., Free PMC Article

    09/6/2010
    Results suggest an evolutionary conserved role for Sea/SLC25A1 in the regulation of chromosome integrity.

    A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.
    Morciano P, Carrisi C, Capobianco L, Mannini L, Burgio G, Cestra G, De Benedetto GE, Corona DF, Musio A, Cenci G.

    03/1/2010
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