| [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene]. | [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
Zhang Q, Feng X, Wang X, Liu F, Zhou B, Zhang C, Wang Y, Shi J, Hao S, Hui L, Yi B. | 04/5/2024 |
| Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications. | Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications.
Giangregorio N, Tonazzi A, Console L, Scalise M, Indiveri C., Free PMC Article | 07/5/2023 |
| Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia. | Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N. | 01/29/2022 |
| Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant. | Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Gürbüz BB, Yılmaz DY, Özgül RK, Koşukcu C, Dursun A, Sivri HS, Coşkun T, Tokatlı A. | 10/2/2021 |
| we report the first 2 cases of CACTD identified from the mainland China. Apart from a founder mutation c.199-10T>G, we have identified a novel c.1A>G mutation. Patients with Carnitine-acylcarnitine translocase deficiency with a genotype of c.199-10T>G mutation usually presents with a severe clinical phenotype. Early recognition and appropriate treatment is crucial in this highly lethal disorder. | Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
Yan HM, Hu H, Ahmed A, Feng BB, Liu J, Jia ZJ, Wang H., Free PMC Article | 12/2/2017 |
| We provide evidence that the downregulation of hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase in both expression and activity of CPT1A, CACT and CrAT in malignant prostate cells. | Deregulation of MicroRNAs mediated control of carnitine cycle in prostate cancer: molecular basis and pathophysiological consequences.
Valentino A, Calarco A, Di Salle A, Finicelli M, Crispi S, Calogero RA, Riccardo F, Sciarra A, Gentilucci A, Galderisi U, Margarucci S, Peluso G. | 11/4/2017 |
| The antiport mode of transport, typical of mitochondrial carriers such as CAC, results from coupling of uniport reactions in opposite directions mediated by specific amino acid residues. | Identification of amino acid residues underlying the antiport mechanism of the mitochondrial carnitine/acylcarnitine carrier by site-directed mutagenesis and chemical labeling.
Giangregorio N, Console L, Tonazzi A, Palmieri F, Indiveri C. | 01/10/2015 |
| C.576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations. | Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, Fukao T, Saito T. | 05/24/2014 |
| CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders. | Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
Violante S, Ijlst L, Te Brinke H, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM. | 07/6/2013 |
| 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 |
| Results show Steroid Receptor Coactivator-3 (SRC-3) plays a central role in long chain fatty acid metabolism by directly regulating carnitine/acyl-carnitine translocase (CACT) gene expression. | Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy.
York B, Reineke EL, Sagen JV, Nikolai BC, Zhou S, Louet JF, Chopra AR, Chen X, Reed G, Noebels J, Adesina AM, Yu H, Wong LJ, Tsimelzon A, Hilsenbeck S, Stevens RD, Wenner BR, Ilkayeva O, Xu J, Newgard CB, O'Malley BW., Free PMC Article | 10/6/2012 |
| These results show that FOXA and Sp1 sites in HepG2 cells and only the Sp1 site in HEK293 and SK-N-SH cells have a critical role in the transcriptional regulation of the CAC proximal promoter. | Role of FOXA and Sp1 in mitochondrial acylcarnitine carrier gene expression in different cell lines.
Convertini P, Infantino V, Bisaccia F, Palmieri F, Iacobazzi V. | 02/26/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | 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., Free PMC Article | 12/5/2010 |
| PPARalpha regulates the expression of human SLC25A20 via the peroxisome proliferator responsive element. | Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.
Tachibana K, Takeuchi K, Inada H, Yamasaki D, Ishimoto K, Tanaka T, Hamakubo T, Sakai J, Kodama T, Doi T. | 01/21/2010 |
| Functional analysis of mutations of residues Pro278 and Ala279 in A. nidulans, together with kinetic data in reconstituted liposomes, suggest a predominant structural role for these amino acids. | Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif.
De Lucas JR, Indiveri C, Tonazzi A, Perez P, Giangregorio N, Iacobazzi V, Palmieri F. | 01/21/2010 |
| Report the outcome of two siblings with CACT deficiency. | Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A. | 01/21/2010 |
| The modulation of CACT expression has consequences for CPT 1 activity, while the biologic effects of acetyl-carnitine are not associated with a generic supply of energy compounds but to the anaplerotic property of the molecule. | Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells.
Peluso G, Petillo O, Margarucci S, Grippo P, Melone MA, Tuccillo F, Calvani M. | 01/21/2010 |
| A deficiency in CACT was treated with a carnitine diet and administration of medium-chain triglycerides. | Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. | 01/21/2010 |
| The clinical, biochemical, & molecular features of 6 CACT-deficient patients from Italy, Spain, & North America who had significant clinical heterogeneity are reported. 5 novel & 3 previously reported mutations were found. | Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F. | 01/21/2010 |