Disease on EC 6.1.1.20 - phenylalanine-tRNA ligase
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Brain Diseases
Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.
Brain Diseases
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Brain Diseases
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
Brain Diseases
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Brain Diseases
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Brain Diseases
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.
Brain Diseases
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Brain Diseases
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Carcinoma, Hepatocellular
A comparison of phenylalanyl-tRNA synthetase from rat liver and a minimal deviation hepatoma.
Carcinoma, Hepatocellular
Effects of ochratoxin A metabolites on yeast phenylalanyl-tRNA synthetase and on the growth and in vivo protein synthesis of hepatoma cells.
Cardiovascular Diseases
Developmental Angiogenesis Requires the Mitochondrial Phenylalanyl-tRNA Synthetase.
Cystic Fibrosis
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.
Cytochrome-c Oxidase Deficiency
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Diabetes Mellitus
Genetic polymorphisms associated with oxaliplatin-induced peripheral neurotoxicity in Japanese patients with colorectal cancer.
Diffuse Cerebral Sclerosis of Schilder
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Diffuse Cerebral Sclerosis of Schilder
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Drug Resistant Epilepsy
A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene.
Drug Resistant Epilepsy
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Dysphonia
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
Epilepsies, Myoclonic
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Epilepsy
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Epilepsy
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
Epilepsy
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Epilepsy
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Epilepsy
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Epilepsy
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Leigh Disease
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Human phenylalanyl-tRNA synthetase: cloning, characterization of the deduced amino acid sequences in terms of the structural domains and coordinately regulated expression of the alpha and beta subunits in chronic myeloid leukemia cells.
Leukemia, Myeloid
Expression of a gene encoding a tRNA synthetase-like protein is enhanced in tumorigenic human myeloid leukemia cells and is cell cycle stage- and differentiation-dependent.
Malaria
Plasmodium falciparum mitochondria import tRNAs along with an active phenylalanyl-tRNA synthetase.
Mitochondrial Diseases
A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene.
Mitochondrial Diseases
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Mitochondrial Diseases
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Mitochondrial Diseases
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Muscle Hypotonia
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Muscle Spasticity
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Myoclonus
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Neoplasms
Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer.
Neurodegenerative Diseases
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
Pancreatic Neoplasms
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks.
Paraplegia
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
Paraplegia
Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.
Paraplegia
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Paraplegia
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.
Paraplegia
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
phenylalanine-trna ligase deficiency
Developmental Angiogenesis Requires the Mitochondrial Phenylalanyl-tRNA Synthetase.
phenylalanine-trna ligase deficiency
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
phenylalanine-trna ligase deficiency
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
phenylalanine-trna ligase deficiency
Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid.
Seizures
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Seizures
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
Spastic Paraplegia, Hereditary
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
Status Epilepticus
A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene.
Tuberculosis
Re-discovery of PF-3845 as a new chemical scaffold inhibiting phenylalanyl-tRNA synthetase in Mycobacterium tuberculosis.
Tuberculosis
Rediscovery of PF-3845 as a new chemical scaffold inhibiting phenylalanyl-tRNA synthetase in Mycobacterium tuberculosis.
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