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Disease on EC 6.1.1.20 - phenylalanine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Brain Diseases
Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.
FARS2 Mutations: More Than Two Phenotypes? A Case Report.
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
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.
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.
Dermatomyositis
Autoantibodies and their significance in myositis.
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.
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.
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Dysarthria
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
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.
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
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.
Lung Diseases, Interstitial
Autoantibodies and their significance in myositis.
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.
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
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
Autoantibodies and their significance in myositis.
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.
Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase.
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.
FARS2 Mutations: More Than Two Phenotypes? A Case Report.
New insights into the phenotype of FARS2 deficiency.
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.
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid.
New insights into the phenotype of FARS2 deficiency.
Seizures
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
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.
Starvation
Regulation of E.coli phenylalanyl-tRNA synthetase operon in vivo.
Status Epilepticus
A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene.
Tremor
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Tuberculosis
Re-discovery of PF-3845 as a new chemical scaffold inhibiting phenylalanyl-tRNA synthetase in Mycobacterium tuberculosis.
Rediscovery of PF-3845 as a new chemical scaffold inhibiting phenylalanyl-tRNA synthetase in Mycobacterium tuberculosis.