Ask about this productRelated genes to: GFM2 Blocking Peptide
- Gene:
- GFM2 NIH gene
- Name:
- G elongation factor mitochondrial 2
- Previous symbol:
- -
- Synonyms:
- EFG2, FLJ21661, EF-G2mt
- Chromosome:
- 5q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-09-30
- Date modifiied:
- 2018-09-11
Related products to: GFM2 Blocking Peptide
Related articles to: GFM2 Blocking Peptide
- Source: PubMed
- We previously reported aberrant expression of the cytosolic ribosomal biogenesis factor Nop-7-associated 2 (NSA2) in diabetic nephropathy, the latter also known to involve mitochondrial dysfunction, however the connections between NSA2, mitochondria and renal disease were unclear. In the current paper, we show that NSA2 expression is co-regulated with the GTP-dependent ribosome recycling factor mitochondrial 2 (GFM2) and provide a molecular link between cytosolic and mitochondrial ribosomal biogenesis with mitochondrial dysfunction in chronic kidney disease (CKD). - Source: PubMed
Publication date: 2024/10/13
Zhang MinjieHogstrand ChristerPontrelli PaolaMalik Afshan N - Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a wide clinical and genetic spectrum and can manifest at any age. In this study, we established novel phenotype-genotype correlations between the clinical and molecular features of a cohort of Tunisian patients with mitochondrial diseases. Whole-exome sequencing was performed on five Tunisian patients with suspected mitochondrial diseases. Then, a combination of filtering and bioinformatics prediction tools was utilized to assess the pathogenicity of genetic variations. Sanger sequencing was subsequently performed to confirm the presence of potential deleterious variants in the patients and verify their segregation within families. Structural modeling was conducted to study the effect of novel variants on the protein structure. We identified two novel homozygous variants in (c.827G>C; p.Arg276Pro) and (c.496_497del; p.Leu166GlufsTer2) associated with a severe clinical form of Leigh and Leigh-like syndromes, respectively. Our results further disclosed two variants unreported in North Africa, in (c.569G>A; p.Arg190Gln) and (c.1261G>A; p.Val421Met) genes, and we described the first case of fumaric aciduria in a Tunisian patient harboring the c.1358T>C; p.Leu453Pro variant. Our study expands the mutational and phenotypic spectrum of mitochondrial diseases in Tunisia and highlights the importance of next-generation sequencing to decipher the pathomolecular mechanisms responsible for these disorders in an admixed population. - Source: PubMed
Publication date: 2024/01/12
Gouiza IsmailHechmi MeriemZioudi AbirDallali HamzaKheriji NadiaCharif MajidaLe Mao MorganeGalai SaidKraoua LiliaBen Youssef-Turki IlhemKraoua IchrafLenaers GuyKefi Rym - The crosstalk between genomic alterations and metabolic dysregulation in bladder cancer is largely unknown. A deep understanding of the interactions between cancer drivers and cancer metabolic changes will provide novel opportunities for targeted therapeutic strategies. - Source: PubMed
Publication date: 2023/10/26
Wei ChengchengDeng ChangqiDong RuiHou YaxinWang MiaoWang LiangHou TengChen Zhaohui - Cell entry of SARS-CoV-2 causes genome-wide disruption of the transcriptional profiles of genes and biological pathways involved in the pathogenesis of COVID-19. Expression allelic imbalance is characterized by a deviation from the Mendelian expected 1:1 expression ratio and is an important source of allele-specific heterogeneity. Expression allelic imbalance can be measured by allele-specific expression analysis (ASE) across heterozygous informative expressed single nucleotide variants (eSNVs). ASE reflects many regulatory biological phenomena that can be assessed by combining genome and transcriptome information. ASE contributes to the interindividual variability associated with the disease. We aim to estimate the transcriptome-wide impact of SARS-CoV-2 infection by analyzing eSNVs. - Source: PubMed
Publication date: 2023/02/01
Francisco Junior Ronaldo da SilvaTemerozo Jairo RFerreira Cristina Dos SantosMartins YasmminSouza Thiago Moreno LMedina-Acosta Enriquede Vasconcelos Ana Tereza Ribeiro