| FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. | FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
Li B, Liu F, Chen X, Chen T, Zhang J, Liu Y, Yao Y, Hu W, Zhang M, Wang B, Liu L, Chen K, Wu Y., Free PMC Article | 05/6/2024 |
| Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2. | Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
Li L, Ma J, Wang J, Dong L, Liu S., Free PMC Article | 10/1/2022 |
| Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. | Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B., Free PMC Article | 01/15/2022 |
| Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. | Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Roux CJ, Barcia G, Schiff M, Sissler M, Levy R, Dangouloff-Ros V, Desguerre I, Edvardson S, Elpeleg O, Rötig A, Munnich A, Boddaert N. | 09/11/2021 |
| Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease. | Breaking a single hydrogen bond in the mitochondrial tRNA(Phe) -PheRS complex leads to phenotypic pleiotropy of human disease.
Peretz M, Tworowski D, Kartvelishvili E, Livingston J, Chrzanowska-Lightowlers Z, Safro M., Free PMC Article | 05/15/2021 |
| the presence of aggregation-prone insoluble human mitochondrial phenylalanyl-tRNA synthetase (HsmitPheRS) variants could have a detrimental impact on organellar translation, and potentially impact normal mitochondrial function in Alpers encephalopathy | Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.
Chakraborty S, Ibba M, Banerjee R. | 05/16/2020 |
| The total number of unique pathogenic FARS2 variants known to date is 21 including three different partial gene deletions reported in four individuals. Except for the large deletions, all variants but two (one in-frame deletion of one amino acid and one splice-site variant) are missense. All large deletions and the single splice-site variant are in trans with a missense variant. | FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC. | 06/22/2019 |
| Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. | New insights into the phenotype of FARS2 deficiency.
Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R., Free PMC Article | 09/1/2018 |
| in patients with drug-resistant infantile spasm syndrome, associated with focal seizures, mild metabolic changes, and cerebral atrophy with volume loss of white matter on MRI, mutations in FARS2 should be considered. | Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M. | 10/21/2017 |
| Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2 have been described. | Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.
Kartvelishvili E, Tworowski D, Vernon H, Moor N, Wang J, Wong LJ, Chrzanowska-Lightowlers Z, Safro M., Free PMC Article | 08/26/2017 |
| A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. | A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y. | 10/22/2016 |
| this study expands the phenotypic spectrum of FARS2 related disease and emphasizes intragenic deletion in the list of causative mutations. | Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Vernon HJ, McClellan R, Batista DA, Naidu S. | 01/16/2016 |
| the three FARS2 mutations directly impair aminoacylation function and stability of mtPheRS, leading to a decrease in overall tRNA charging capacity. | Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A. | 06/22/2013 |
| Two phenylalanyl-tRNA synthetase variants Ser57Cys and Asp280Ser both display wild-type aminoacylation activity and stability with respect to their free energies of unfolding, but are less stable at low hydrogen-ion concentration (pH). | Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation.
Banerjee R, Reynolds NM, Yadavalli SS, Rice C, Roy H, Banerjee P, Alexander RW, Ibba M. | 08/20/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic 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. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| these results indicate that conformational flexibility of the two functional modules in mtPheRS is essential for its phenylalanylation activity. | Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase.
Yadavalli SS, Klipcan L, Zozulya A, Banerjee R, Svergun D, Safro M, Ibba M. | 01/21/2010 |
| Mitochondrial and cytoplasmic phenylalanyl-tRNA synthetases (HsmtPheRS and HsctPheRS, respectively) catalyze direct attachment of m-Tyr to tRNA(Phe). | Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine.
Klipcan L, Moor N, Kessler N, Safro MG., Free PMC Article | 01/21/2010 |
| Formation of the PheRS-tRNAPhe complex in human mitochondria must be accompanied by considerable rearrangement of the anticodon binding domain upon tRNA binding. | The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase.
Klipcan L, Levin I, Kessler N, Moor N, Finarov I, Safro M. | 01/21/2010 |
| The recombinant human enzyme has been purified to homogeneity and crystallized in complex with phenylalanine and ATP. | Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase.
Levin I, Kessler N, Moor N, Klipcan L, Koc E, Templeton P, Spremulli L, Safro M., Free PMC Article | 01/21/2010 |