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Disease on EC 6.1.1.7 - alanine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Ataxia
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration.
Brain Diseases
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
CADASIL
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.
Cardiomyopathies
A novel compound heterozygous mutation in AARS2 gene (c.965?G?>?A, p.R322H; c.334?G?>?C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Expansion of the clinical spectrum associated with AARS2-related disorders.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Cardiomyopathy, Dilated
Recessive Inheritance of a Rare Variant in the Nuclear Mitochondrial Gene for AARS2 in Late Onset Dilated Cardiomyopathy.
Cardiomyopathy, Hypertrophic
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Cerebellar Ataxia
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
Charcot-Marie-Tooth Disease
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
A recurrent loss-of-function alanyl-tRNA synthetase (AARS?) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Deafness
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Dementia
Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.
Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.
Dyskinesias
Surgical alar base management with a personal technique: the tightening alar base suture.
Genetic Diseases, Inborn
Case report: 'AARS2 leukodystrophy'.
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.
Heart Diseases
Case report: 'AARS2 leukodystrophy'.
Heart Failure
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Idiopathic Pulmonary Fibrosis
Autoantibody to alanyl-tRNA synthetase in patients with idiopathic pulmonary fibrosis.
Leukoencephalopathies
AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.
An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Expansion of the clinical spectrum associated with AARS2-related disorders.
New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Redefining the phenotype of ALSP and
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Lung Diseases, Interstitial
Anti-Synthetase Syndrome-Related Interstitial Lung Disease With Anti-PL-12 Antibodies.
Microcephaly
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Impact of alanyl-tRNA synthetase editing deficiency in yeast.
Mitochondrial Diseases
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Mitochondrial Encephalomyopathies
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Muscular Dystrophies, Limb-Girdle
Case report: 'AARS2 leukodystrophy'.
Myocardial Infarction
[tRNA and aminoacyl-tRNA synthetases from the liver of rabbits in experimental myocardial infarction]
Myocardial Ischemia
[Seasonal differences in activity of tRNA and aminoacyl-tRNA synthetases of rabbit liver in myocardial ischemia]
Myositis
Anti-Synthetase Syndrome-Related Interstitial Lung Disease With Anti-PL-12 Antibodies.
Autoantibodies against alanyl-tRNA synthetase and tRNAAla coexist and are associated with myositis.
Pulmonary Pathologic Manifestations of Anti-Alanyl-tRNA Synthetase (Anti-PL-12)-Related Inflammatory Myopathy.
RENAL, HEPATIC AND IMMUNE FUNCTION INDICES IN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY.
Nervous System Diseases
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Neurodegenerative Diseases
Substrate specificity and catalysis by the editing active site of Alanyl-tRNA synthetase from Escherichia coli.
The uniqueness of AlaRS and its human disease connections.
Optic Atrophy
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.
Polymyositis
Polymyositis and molecular mimicry, a mechanism of autoimmunity.
thymidine kinase deficiency
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Tremor
New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.