| SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma. | SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma.
Fan Z, Duan J, Luo P, Shao L, Chen Q, Tan X, Zhang L, Xu X., Free PMC Article | 04/23/2022 |
| SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. | SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD., Free PMC Article | 03/26/2022 |
| Dentate gyrus volume deficit in schizophrenia. | Dentate gyrus volume deficit in schizophrenia.
Nakahara S, Turner JA, Calhoun VD, Lim KO, Mueller B, Bustillo JR, O'Leary DS, McEwen S, Voyvodic J, Belger A, Mathalon DH, Ford JM, Macciardi F, Matsumoto M, Potkin SG, van Erp TGM., Free PMC Article | 04/17/2021 |
| Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent. | Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
Ravindra N, Athiyarath R, S E, S S, Kulkarni U, N A F, Korula A, Shaji RV, George B, Edison ES. | 03/20/2021 |
| Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38. | Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.
Uminski K, Houston DS, Hartley JN, Liu J, Cuvelier GDE, Israels SJ. | 01/9/2021 |
| These findings suggest that sideroblastic anemia must be considered a possible etiology in cases with unexplained hemolytic anemia. Furthermore, mutations in SLC25A38 gene could be a prevalent cause of congenital sideroblastic anemia (CSA) in the Iranian population. | Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M. | 03/23/2019 |
| report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications | Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP. | 08/25/2018 |
| the biochemical and molecular characterization of yeast Hem25p and human SLC25A38, providing evidence that they are mitochondrial carriers for glycine. In particular, the hem25Delta mutant manifests a defect in the biosynthesis of delta-aminolevulinic acid and displays reduced levels of downstream heme and mitochondrial cytochromes. | Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.
Lunetti P, Damiano F, De Benedetto G, Siculella L, Pennetta A, Muto L, Paradies E, Marobbio CM, Dolce V, Capobianco L., Free PMC Article | 05/20/2017 |
| Appoptosin can interact with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology. | Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology.
Zhang C, Shi Z, Zhang L, Zhou Z, Zheng X, Liu G, Bu G, Fraser PE, Xu H, Zhang YW., Free PMC Article | 12/17/2016 |
| Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia | Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
Fernández-Murray JP, Prykhozhij SV, Dufay JN, Steele SL, Gaston D, Nasrallah GK, Coombs AJ, Liwski RS, Fernandez CV, Berman JN, McMaster CR., Free PMC Article | 05/14/2016 |
| This study findings reveal a novel role for appoptosin in neurological disorders with tau neuropathology, linking caspase-3-mediated tau cleavage to synaptic dysfunction and behavioral/motor defects. | Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.
Zhao Y, Tseng IC, Heyser CJ, Rockenstein E, Mante M, Adame A, Zheng Q, Huang T, Wang X, Arslan PE, Chakrabarty P, Wu C, Bu G, Mobley WC, Zhang YW, St George-Hyslop P, Masliah E, Fraser P, Xu H., Free PMC Article | 11/28/2015 |
| Letter/Case Report: novel frameshift mutation in SLC25A38 causing congenital sideroblastic anaemia. | Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.
Wong WS, Wong HF, Cheng CK, Chang KO, Chan NP, Ng MH, Wong KF. | 05/23/2015 |
| Several missense mutations are found in SLC25A38 in a Chinese population with congenital sideroblastic anemia. | Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.
Liu G, Guo S, Kang H, Zhang F, Hu Y, Wang L, Li M, Ru Y, Camaschella C, Han B, Nie G., Free PMC Article | 07/19/2014 |
| Our study identifies appoptosin as a crucial player in apoptosis and a novel pro-apoptotic protein involved in neuronal cell death. | Appoptosin is a novel pro-apoptotic protein and mediates cell death in neurodegeneration.
Zhang H, Zhang YW, Chen Y, Huang X, Zhou F, Wang W, Xian B, Zhang X, Masliah E, Chen Q, Han JD, Bu G, Reed JC, Liao FF, Chen YG, Xu H., Free PMC Article | 02/27/2014 |
| 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 |
| Mutations in the SLC25A38 gene cause severe, non-syndromic, microcytic/hypochromic sideroblastic anemia in many populations. | Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A., Free PMC Article | 09/24/2011 |
| Twelve CSA probands had biallelic mutations in SLC25A38 | Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ., Free PMC Article | 02/1/2010 |