Mitochondrial Carrier SLC25A13 Drives Ferroptosis Resistance and Immune Evasion via a STAT3–IFI6 Circuit in Breast Cancer [PDF]
Advanced ScienceTriple‐negative breast cancer (TNBC) remains poorly responsive to immunotherapy, and how ferroptosis can be leveraged to enhance antitumor immunity is unclear.
Yingze Zhu +8 more
doaj +2 more sources
Frontiers in Pediatrics, 2023 BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis.Case presentationWe report ...
Sainan Shu, Zhihua Huang
exaly +3 more sources
Comprehensive In Silico Investigation of L-Glutamine Transporters and Metabolism in Glioblastoma [PDF]
PharmaceuticalsBackground/Objectives: Glioblastoma (GBM) is the most aggressive primary brain tumor in adults and remains associated with poor prognosis despite multimodal therapy.
Sachin Kumar +6 more
doaj +2 more sources
Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II [PDF]
European Journal of Case Reports in Internal MedicineBackground: Adult-onset citrullinemia type II (CTLN2) is a rare autosomal recessive urea cycle disorder caused by mutations in the solute carrier family 25 member 13 (SLC25A13) gene, which encodes citrin–a mitochondrial transporter involved in the malate–
Thanh-Huong Truong +6 more
doaj +2 more sources
Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes [PDF]
Jornal de PediatriaObjective: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations in the SLC25A13 gene. This study aimed to expand the current body of data on Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency ...
Lingli Chen +5 more
doaj +2 more sources
Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report [PDF]
Frontiers in MedicineBackgroundPrimary sclerosing cholangitis (PSC) is the most common and clinically significant hepatobiliary extraintestinal manifestation of ulcerative colitis (UC), bringing considerable difficulties to clinical diagnosis and treatment and carrying a ...
Yamei Shi, Kun Chen, Jun Ye, Mei Yang
doaj +2 more sources
Unveiling the oncogenic role of SLC25A13: a multi-omics pan-cancer analysis reveals its impact on glioma progression [PDF]
Cancer Cell InternationalSLC25A13, a pivotal component of the mitochondrial aspartate-glutamate carrier, is integral to cellular metabolism and has been linked to various diseases. However, its role in cancer biology remains largely unexplored.
Wenjie Wu +6 more
doaj +2 more sources
A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report [PDF]
Frontiers in PediatricsCitrin deficiency (CD) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier 2, also known as citrin.
Ruyi Ye +7 more
doaj +2 more sources
Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review [PDF]
Human GenomicsObjective In China, research on expanded carrier screening (ECS) has exhibited significant inconsistencies due to regional variations, with a lack of large-scale data analysis of the population nationwide.
Yirong Xia, Yinan Ma
doaj +2 more sources
Comprehensive analysis of circRNA-miRNA-mRNA networks to reveal potential cell death, inflammation and oxidative stress-related targets for postoperative cognitive dysfunction [PDF]
Frontiers in Aging NeuroscienceBackgroundPostoperative cognitive dysfunction (POCD) is a common neurological complication involving the hippocampus, a brain region critical for learning and memory. Circular RNA (circRNA) plays an important role in regulating gene expression.
Yajing Zhang +8 more
doaj +2 more sources