المؤلفون: Lewis AM; Chemistry Department, Skidmore College, Saratoga Springs, New York, USA., Fallon T; Chemistry Department, Skidmore College, Saratoga Springs, New York, USA., Dittemore GA; Chemistry Department, Skidmore College, Saratoga Springs, New York, USA., Sheppard K; Chemistry Department, Skidmore College, Saratoga Springs, New York, USA.

المصدر: IUBMB life [IUBMB Life] 2024 Aug; Vol. 76 (8), pp. 505-522. Date of Electronic Publication: 2024 Feb 23.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Published for the International Union of Biochemistry and Molecular Biology by Taylor & Francis Country of Publication: England NLM ID: 100888706 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-6551 (Electronic) Linking ISSN: 15216543 NLM ISO Abbreviation: IUBMB Life Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acyl-tRNA Synthetases*/genetics , Amino Acyl-tRNA Synthetases*/metabolism , RNA, Transfer, Amino Acyl*/metabolism , RNA, Transfer, Amino Acyl*/genetics , Evolution, Molecular* , Protein Biosynthesis*, Asparagine/metabolism ; Asparagine/genetics ; Glutamine/metabolism ; Bacteria/genetics ; Bacteria/enzymology ; Bacteria/metabolism ; Archaea/genetics ; Archaea/metabolism ; Archaea/enzymology ; Aspartate-tRNA Ligase/genetics ; Aspartate-tRNA Ligase/metabolism ; Amides/metabolism ; Humans

المؤلفون: Ficaretta ED; Department of Chemistry, Boston College, 2609 Beacon Street, Chestnut Hill, Massachusetts 02467, United States., Singha Roy SJ; Department of Chemistry, Boston College, 2609 Beacon Street, Chestnut Hill, Massachusetts 02467, United States., Voss L; Department of Chemistry, Boston College, 2609 Beacon Street, Chestnut Hill, Massachusetts 02467, United States., Chatterjee A; Department of Chemistry, Boston College, 2609 Beacon Street, Chestnut Hill, Massachusetts 02467, United States.

المصدر: ACS chemical biology [ACS Chem Biol] 2024 Jul 19; Vol. 19 (7), pp. 1563-1569. Date of Electronic Publication: 2024 Jun 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101282906 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8937 (Electronic) Linking ISSN: 15548929 NLM ISO Abbreviation: ACS Chem Biol Subsets: MEDLINE

مواضيع طبية MeSH: Escherichia coli*/genetics , Escherichia coli*/metabolism , Amino Acids*/metabolism , RNA, Transfer*/metabolism , RNA, Transfer*/genetics , Amino Acyl-tRNA Synthetases*/metabolism , Amino Acyl-tRNA Synthetases*/genetics, Escherichia coli Proteins/metabolism ; Escherichia coli Proteins/genetics ; Tyrosine-tRNA Ligase/metabolism ; Tyrosine-tRNA Ligase/genetics ; Protein Biosynthesis ; Codon, Nonsense

المؤلفون: Tang GQ; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, USA., Hu H; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, USA., Douglas J; Department of Physics, The University of Auckland, New Zealand.; Centre for Computational Evolution, University of Auckland, New Zealand.; Department of Computer Science, The University of Auckland, New Zealand., Carter CW Jr; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jul 08; Vol. 52 (12), pp. 7096-7111.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Nucleic Acid Conformation* , RNA, Transfer*/metabolism , RNA, Transfer*/chemistry , RNA, Transfer*/genetics , Amino Acyl-tRNA Synthetases*/metabolism , Amino Acyl-tRNA Synthetases*/chemistry , Amino Acyl-tRNA Synthetases*/genetics, Catalytic Domain ; Genetic Code ; RNA, Catalytic/chemistry ; RNA, Catalytic/metabolism ; Substrate Specificity ; Leucine-tRNA Ligase/metabolism ; Leucine-tRNA Ligase/chemistry ; Leucine-tRNA Ligase/genetics

المؤلفون: Yu L; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, China., Chen Z; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhou X; State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China., Teng F; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., Bai QR; Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Orthopaedic Department of Tongji Hospital, School of Life Sciences and Technology, Tongji University, Shanghai, China., Li L; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., Li Y; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, China., Liu Y; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Neurology, Huadong Hospital Affiliated to Fudan University, Shanghai, China., Zeng Q; State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China., Wang Y; State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China.; School of Life Science and Technology, ShanghaiTech University, Shanghai, China., Wang M; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Neurosurgery & Neurocritical Care, Huashan Hospital Affiliated to Fudan University, Shanghai, China., Xu Y; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China., Tang X; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wang X; Department of Neurology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

المصدر: Journal of pineal research [J Pineal Res] 2024 Aug; Vol. 76 (5), pp. e12998.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8504412 Publication Model: Print Cited Medium: Internet ISSN: 1600-079X (Electronic) Linking ISSN: 07423098 NLM ISO Abbreviation: J Pineal Res Subsets: MEDLINE

مواضيع طبية MeSH: Melatonin*/metabolism , Myelin Sheath*/metabolism , Oligodendroglia*/metabolism , Lysine-tRNA Ligase*/genetics, Animals ; Mice ; Amino Acyl-tRNA Synthetases/genetics ; Amino Acyl-tRNA Synthetases/metabolism ; Brain/metabolism ; Brain/pathology ; Gene Knock-In Techniques ; Leukoencephalopathies/genetics ; Leukoencephalopathies/metabolism ; Leukoencephalopathies/pathology ; Mutation

المؤلفون: Domínguez-Ruiz M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Olarte M; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., Onecha E; Servicio de Genética, Hospital Universitario Marqués de Valdecilla, IDIVAL, 39008 Santander, Spain., García-Vaquero I; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Programa de Doctorado en Biología, Escuela de Doctorado de la Universidad Autónoma de Madrid, 28049 Madrid, Spain., Gelvez N; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., López G; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., Villamar M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Morín M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Moreno-Pelayo MA; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Morales-Angulo C; Servicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, IDIVAL, 39008 Santander, Spain.; Facultad de Medicina, Universidad de Cantabria, 39005 Santander, Spain., Polo R; Servicio de Otorrinolaringología, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Tamayo ML; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., Del Castillo I; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.

المصدر: Genes [Genes (Basel)] 2024 Jul 19; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acyl-tRNA Synthetases*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Hearing Loss/genetics ; Mitochondrial Proteins/genetics ; Adult ; Pedigree ; Mitochondria/genetics ; Mutation ; Infant ; Deafness/genetics ; Phenotype ; Genetic Association Studies ; Lysine-tRNA Ligase/genetics

SCR Disease Name: Nonsyndromic Deafness

المؤلفون: Ju J; Department of Medical Ultrasound and Department of Stomatology, Shanghai Tenth People's Hospital, Tongji University Cancer Center, Tongji University School of Medicine, Shanghai, China., Zhang H; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Lin M; Department of General Surgery, Yangpu Hospital, Tongji University School of Medicine, Shanghai, China., Yan Z; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China.; School of Life Science, Inner Mongolia University, Hohhot, Inner Mongolia, China., An L; Department of Medical Ultrasound and Department of Stomatology, Shanghai Tenth People's Hospital, Tongji University Cancer Center, Tongji University School of Medicine, Shanghai, China., Cao Z; Department of Medical Ultrasound and Department of Stomatology, Shanghai Tenth People's Hospital, Tongji University Cancer Center, Tongji University School of Medicine, Shanghai, China., Geng D; School of Medicine, Anhui University of Science and Technology, Huainan, China., Yue J; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Tang Y; Department of Medical Ultrasound and Department of Stomatology, Shanghai Tenth People's Hospital, Tongji University Cancer Center, Tongji University School of Medicine, Shanghai, China., Tian L; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Chen F; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Han Y; Department of Medical Ultrasound and Department of Stomatology, Shanghai Tenth People's Hospital, Tongji University Cancer Center, Tongji University School of Medicine, Shanghai, China., Wang W; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Zhao S; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Jiao S; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China., Zhou Z; State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai, China.; Collaborative Innovation Center for Cancer Personalized Medicine, School of Public Health, Nanjing Medical University, Nanjing, China.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Mar 21; Vol. 134 (10). Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction* , Stomach Neoplasms*/enzymology , Stomach Neoplasms*/genetics , Stomach Neoplasms*/pathology , Transcription Factors*/metabolism , Transcription Factors*/genetics , YAP-Signaling Proteins*/metabolism , YAP-Signaling Proteins*/genetics , Alanine-tRNA Ligase*/genetics , Alanine-tRNA Ligase*/metabolism, Animals ; Humans ; Mice ; Adaptor Proteins, Signal Transducing/metabolism ; Adaptor Proteins, Signal Transducing/genetics ; Amino Acyl-tRNA Synthetases/metabolism ; Amino Acyl-tRNA Synthetases/genetics ; Cell Line, Tumor ; Cell Proliferation ; Gene Expression Regulation, Neoplastic ; Lactic Acid/metabolism ; Neoplasm Proteins/metabolism ; Neoplasm Proteins/genetics

المؤلفون: Narsimulu B; Department of Biotechnology & Bioinformatics, School of Life Sciences, University of Hyderabad, Prof. C.R. Rao Road, Hyderabad 500046, India., Jakkula P; Department of Biotechnology & Bioinformatics, School of Life Sciences, University of Hyderabad, Prof. C.R. Rao Road, Hyderabad 500046, India., Qureshi R; Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500039, India., Nasim F; Department of Biotechnology & Bioinformatics, School of Life Sciences, University of Hyderabad, Prof. C.R. Rao Road, Hyderabad 500046, India., Qureshi IA; Department of Biotechnology & Bioinformatics, School of Life Sciences, University of Hyderabad, Prof. C.R. Rao Road, Hyderabad 500046, India. Electronic address: insaf@uohyd.ac.in.

المصدر: International journal of biological macromolecules [Int J Biol Macromol] 2024 Jan; Vol. 254 (Pt 2), pp. 127756. Date of Electronic Publication: 2023 Oct 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0003 (Electronic) Linking ISSN: 01418130 NLM ISO Abbreviation: Int J Biol Macromol Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acyl-tRNA Synthetases*/chemistry , Leishmania donovani*/metabolism, Humans ; Glutamate-tRNA Ligase/chemistry ; Glutamate-tRNA Ligase/genetics ; Glutamate-tRNA Ligase/metabolism ; Glutamic Acid ; Adenosine Triphosphate ; Salicylates

المؤلفون: Zhang H; Department of Cell Biology and Molecular Genetics, The University of Maryland, College Park, MD 20742, USA., Murphy P; Department of Cell Biology and Molecular Genetics, The University of Maryland, College Park, MD 20742, USA., Yu J; Department of Cell Biology and Molecular Genetics, The University of Maryland, College Park, MD 20742, USA., Lee S; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Advanced Technology Core for Macromolecular X-ray Crystallography, Baylor College of Medicine, Houston, TX 77030, USA., Tsai FTF; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Advanced Technology Core for Macromolecular X-ray Crystallography, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, TX 77030, USA., van Hoof A; Department of Microbiology and Molecular Genetics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Ling J; Department of Cell Biology and Molecular Genetics, The University of Maryland, College Park, MD 20742, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2023 Oct 27; Vol. 51 (19), pp. 10606-10618.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acyl-tRNA Synthetases*/genetics , Amino Acyl-tRNA Synthetases*/metabolism , Proteotoxic Stress*, Humans ; Aminoacylation ; Mutation ; RNA, Transfer/genetics ; RNA, Transfer/metabolism ; Saccharomyces cerevisiae/metabolism ; Threonine-tRNA Ligase/genetics

المؤلفون: de Potter B; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain.; Utrecht University Faculty of Science, Department of Biology, Theoretical Biology and Bioinformatics Utrecht, Utrecht, The Netherlands., Vallee I; The Scripps Research Institute, Department of Molecular Medicine La Jolla, CA, USA., Camacho N; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain., Filipe Costa Póvoas L; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain., Bonsembiante A; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain., Pons I Pons A; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain., Eckhard U; Molecular Biology Institute of Barcelona, Department of Structural Biology, Barcelona, Catalunya, Spain., Gomis-Rüth FX; Molecular Biology Institute of Barcelona, Department of Structural Biology, Barcelona, Catalunya, Spain., Yang XL; The Scripps Research Institute, Department of Molecular Medicine La Jolla, CA, USA., Schimmel P; The Scripps Research Institute, Department of Molecular Medicine La Jolla, CA, USA., Kuhle B; The Scripps Research Institute, Department of Molecular Medicine La Jolla, CA, USA., Ribas de Pouplana L; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain.; ICREA, Catalan Institution for Research and Advanced Studies Barcelona, Catalonia, Spain.

المصدر: Nucleic acids research [Nucleic Acids Res] 2023 Oct 13; Vol. 51 (18), pp. 10001-10010.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Serine-tRNA Ligase*/chemistry , Serine-tRNA Ligase*/metabolism, Animals ; Amino Acyl-tRNA Synthetases/metabolism ; Catalytic Domain

المؤلفون: Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Cale AR; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Pierluissi JA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Jonatzke KE; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Park YN; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Oprescu SN; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Grachtchouk MA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA., Dlugosz AA; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA., Beg AA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA., Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA. Electronic address: antonell@umich.edu.

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100324. Date of Electronic Publication: 2024 Jul 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: Caenorhabditis elegans*/genetics , Saccharomyces cerevisiae*/genetics , Threonine-tRNA Ligase*/genetics , Threonine-tRNA Ligase*/metabolism, Animals ; Mice ; Humans ; Phenotype ; Loss of Function Mutation ; Disease Models, Animal ; Mutation, Missense