4.8 Article

FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIIe and mitochondrial translation

Feilong Meng et al.

Summary: This study revealed the pleiotropic effects of a deafness-associated tRNA mutation on mitochondrial functions, such as affecting tRNA structure and function, impairment of mitochondrial translation, respiratory deficiency, and increasing production of reactive oxygen species.

NUCLEIC ACIDS RESEARCH (2021)

Article Biochemistry & Molecular Biology

An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function

Xiaofen Jin et al.

Summary: YARS2 deficiency can lead to impaired mitochondrial protein synthesis, affecting the stability and activity of the oxidative phosphorylation system, ultimately causing vision impairments. Utilizing CRISPR/Cas9 technology, YARS2 knockout was successfully generated in HeLa cells and zebrafish, revealing the underlying pathophysiology and highlighting the critical role of YARS2 in mitochondrial function and vision disorders.

JOURNAL OF BIOLOGICAL CHEMISTRY (2021)

Article Biochemistry & Molecular Biology

Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency

Qinghai Zhang et al.

Summary: Deficient maturation of mitochondrial transcripts is associated with clinical abnormalities, particularly hypertrophic cardiomyopathy. Knocking out mto1 in zebrafish leads to impaired mitochondrial RNA maturation, affecting mitochondrial translation and oxidative phosphorylation complex activities, resulting in heart development defects and cardiomyocyte hypertrophy.

NUCLEIC ACIDS RESEARCH (2021)

Article Biochemistry & Molecular Biology

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy

Yanchun Ji et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2020)

Review Genetics & Heredity

tRNA Metabolism and Neurodevelopmental Disorders

Ashleigh E. Schaffer et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 20, 2019 (2019)

Review Biochemistry & Molecular Biology

When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases

Ligia Elena Gonzalez-Serrano et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2019)

Review Biochemistry & Molecular Biology

Human aminoacyl-tRNA synthetases in diseases of the nervous system

Jana Ognjenovic et al.

RNA BIOLOGY (2018)

Review Biochemistry & Molecular Biology

Mitochondrial DNA transcription and translation: clinical syndromes

Veronika Boczonadi et al.

MITOCHONDRIAL DISEASES (2018)

Article Clinical Neurology

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

Supreet K. Sahai et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)

Article Genetics & Heredity

Mitochondrial genetic medicine

Douglas C. Wallace

NATURE GENETICS (2018)

Article Clinical Neurology

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy

Jae So Cho et al.

EPILEPSY RESEARCH (2017)

Article Genetics & Heredity

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler et al.

GENETICS (2017)

Review Biochemistry & Molecular Biology

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

Rebecca Meyer-Schuman et al.

HUMAN MOLECULAR GENETICS (2017)

Letter Clinical Neurology

Phenotypic spectrum of DARS2 mutations

Josef Finsteree et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2017)

Article Endocrinology & Metabolism

New insights into the phenotype of FARS2 deficiency

Elise Vantroys et al.

MOLECULAR GENETICS AND METABOLISM (2017)

Review Biochemistry & Molecular Biology

Recent Advances in Mitochondrial Aminoacyl-tRNA Synthetases and Disease

Marie Sissler et al.

TRENDS IN MOLECULAR MEDICINE (2017)

Article Genetics & Heredity

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler et al.

GENETICS (2017)

Article Biochemistry & Molecular Biology

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Abdulraheem Almalki et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)

Editorial Material Medicine, Research & Experimental

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

Henna Tyynismaa et al.

EMBO MOLECULAR MEDICINE (2014)

Article Genetics & Heredity

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Daria Diodato et al.

HUMAN MUTATION (2014)

Article Biochemistry & Molecular Biology

Drosophila melanogaster LRPPRC2 is involved in coordination of mitochondrial translation

Francesca Baggio et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Genetics & Heredity

Genome Engineering of Drosophila with the CRISPR RNA-Guided Cas9 Nuclease

Scott J. Gratz et al.

GENETICS (2013)

Article Genetics & Heredity

Highly Efficient Genome Modifications Mediated by CRISPR/Cas9 in Drosophila

Zhongsheng Yu et al.

GENETICS (2013)

Article Biochemistry & Molecular Biology

Human mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies

Tanit Guitart et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Genetics & Heredity

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals

Anna Wredenberg et al.

PLOS GENETICS (2013)

Article Biochemistry & Molecular Biology

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Jenni M. Elo et al.

HUMAN MOLECULAR GENETICS (2012)

Article Genetics & Heredity

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Hanan E. Shamseldin et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Cell Biology

Mitochondrial tRNA mutations associated with deafness

Jing Zheng et al.

MITOCHONDRION (2012)

Review Genetics & Heredity

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

Tsutomu Suzuki et al.

ANNUAL REVIEW OF GENETICS, VOL 45 (2011)

Article Biochemistry & Molecular Biology

New Aminoacyl-tRNA Synthetase-like Protein in Insecta with an Essential Mitochondrial Function

Tanit Guitart et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Review Neurosciences

From bench to drug:: Human seizure modeling using Drosophila

Juan Song et al.

PROGRESS IN NEUROBIOLOGY (2008)

Article Cell Biology

Respiratory chain enzyme analysis in muscle and liver

DR Thorburn et al.

MITOCHONDRION (2004)

Review Biochemistry & Molecular Biology

Human mitochondrial tRNAs in health and disease

C Florentz et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2003)