We are analyzing https://link.springer.com/chapter/10.1007/8904_2014_397.

Title:
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature | SpringerLink
Description:
YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA. Mutations in YARS2 have been identified in patients with myopathy, lactic acidosis, and sideroblastic anemia type 2...
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Topics {✒️}

mitochondrial tyrosyl-trna synthetase vars2-linked mitochondrial encephalopathy coli aminoacyl-trna synthetase mitochondrial aminoacyl-trna synthetases month download article/chapter tyrosyl-trna synthetase springer-verlag berlin heidelberg graziella uziel declare homozygous splice-site mutation sideroblastic anemia-mlasa syndrome privacy choices/manage cookies device instant download cognate mt-trna cognate trna recognition medical university innsbruck congenital sideroblastic anemia phenotype-genotype correlation editor information editors molecular genetics unit european economic area older patient presented cognate mt-trnatyr case reports enlarging progressive myoclonic epilepsy growth hormone deficiency partial sensorineural deafness fc performed biochemical cda performed experiments distinct mitochondrial myopathy conditions privacy policy chapter jimd reports prevent severe complications animal subjects performed el monitored biochemical heidelberg university hospital de novo mutation yars2 mitochondrial myopathy accepting optional cookies cristina dallabona claudia donnini class ii mode luisa mariani centre ethic guidelines conflict mitochondrial disease patients genetic movement disorders main content log important intellectual content α-anticodon-binding check access gu critically revised

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ScholarlyArticle:
      headline:A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
      pageEnd:101
      pageStart:95
      image:https://media.springernature.com/w153/springer-static/cover/book/978-3-662-46700-8.jpg
      genre:
         Medicine
         Medicine (R0)
      isPartOf:
         name:JIMD Reports, Volume 20
         isbn:
            978-3-662-46700-8
            978-3-662-46699-5
         type:Book
      publisher:
         name:Springer Berlin Heidelberg
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Anna Ardissone
            affiliation:
                  name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Eleonora Lamantea
            affiliation:
                  name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
            name:Jade Quartararo
            affiliation:
                  name:University of Parma
                  address:
                     name:Department of Life Sciences, University of Parma, Parma, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Cristina Dallabona
            affiliation:
                  name:University of Parma
                  address:
                     name:Department of Life Sciences, University of Parma, Parma, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Franco Carrara
            affiliation:
                  name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Isabella Moroni
            affiliation:
                  name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Claudia Donnini
            affiliation:
                  name:University of Parma
                  address:
                     name:Department of Life Sciences, University of Parma, Parma, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Barbara Garavaglia
            affiliation:
                  name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Massimo Zeviani
            affiliation:
                  name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
                  name:MRC Mitochondrial Biology Unit
                  address:
                     name:MRC Mitochondrial Biology Unit, Cambridge, UK
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Graziella Uziel
            affiliation:
                  name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
                  address:
                     name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
                     type:PostalAddress
                  type:Organization
            type:Person
      keywords:Mitochondria, Myopathy, lactic acidosis, and sideroblastic anemia, Tyrosyl-tRNA synthetase, YARS2
      description: YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA. Mutations in YARS2 have been identified in patients with myopathy, lactic acidosis, and sideroblastic anemia type 2 (MLASA2). We report here on two siblings with a novel mutation and a review of literature. The older patient presented at 2 months with marked anemia and lactic acidemia. He required periodic blood transfusions until 14 months of age. Cognitive and motor development was normal. His younger sister was diagnosed at birth, presenting with anemia and lactic acidosis at 1 month of age requiring periodical transfusions. She is now 14 months old and doing well. For both our patients, there was no clinical evidence of muscle involvement. We found a new homozygous mutation in YARS2, located in the α-anticodon-binding (αACB) domain, involved in the interaction with the anticodon of the cognate mt-tRNATyr. Our study confirms that MLASA must be considered in patients with congenital sideroblastic anemia and underlines the importance of early diagnosis and supportive therapy in order to prevent severe complications. Clinical severity is variable among YARS2-reported patients: our review of the literature suggests a possible phenotype-genotype correlation, although this should be confirmed in a larger population.
      datePublished:2014
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Book:
      name:JIMD Reports, Volume 20
      isbn:
         978-3-662-46700-8
         978-3-662-46699-5
Organization:
      name:Springer Berlin Heidelberg
      logo:
         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
         type:ImageObject
      name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
      name:University of Parma
      address:
         name:Department of Life Sciences, University of Parma, Parma, Italy
         type:PostalAddress
      name:University of Parma
      address:
         name:Department of Life Sciences, University of Parma, Parma, Italy
         type:PostalAddress
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
      name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
      name:University of Parma
      address:
         name:Department of Life Sciences, University of Parma, Parma, Italy
         type:PostalAddress
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
      name:MRC Mitochondrial Biology Unit
      address:
         name:MRC Mitochondrial Biology Unit, Cambridge, UK
         type:PostalAddress
      name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
      address:
         name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Anna Ardissone
      affiliation:
            name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
      name:Eleonora Lamantea
      affiliation:
            name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
      email:[email protected]
      name:Jade Quartararo
      affiliation:
            name:University of Parma
            address:
               name:Department of Life Sciences, University of Parma, Parma, Italy
               type:PostalAddress
            type:Organization
      name:Cristina Dallabona
      affiliation:
            name:University of Parma
            address:
               name:Department of Life Sciences, University of Parma, Parma, Italy
               type:PostalAddress
            type:Organization
      name:Franco Carrara
      affiliation:
            name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
      name:Isabella Moroni
      affiliation:
            name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
      name:Claudia Donnini
      affiliation:
            name:University of Parma
            address:
               name:Department of Life Sciences, University of Parma, Parma, Italy
               type:PostalAddress
            type:Organization
      name:Barbara Garavaglia
      affiliation:
            name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
      name:Massimo Zeviani
      affiliation:
            name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
            name:MRC Mitochondrial Biology Unit
            address:
               name:MRC Mitochondrial Biology Unit, Cambridge, UK
               type:PostalAddress
            type:Organization
      name:Graziella Uziel
      affiliation:
            name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”
            address:
               name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
      name:Department of Life Sciences, University of Parma, Parma, Italy
      name:Department of Life Sciences, University of Parma, Parma, Italy
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
      name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
      name:Department of Life Sciences, University of Parma, Parma, Italy
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
      name:Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
      name:MRC Mitochondrial Biology Unit, Cambridge, UK
      name:Unit of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
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