Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.

Jin, Danni; Wek, Sheree A; Kudlapur, Nathan T; Cantara, William A; Bakhtina, Marina; Wek, Ronald C; Musier-Forsyth, Karin

Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.

Jin, Danni; Wek, Sheree A; Kudlapur, Nathan T; Cantara, William A; Bakhtina, Marina; Wek, Ronald C; Musier-Forsyth, Karin.

Afiliación

Jin D; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Wek SA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis Indiana, USA.
Kudlapur NT; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Cantara WA; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Bakhtina M; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Wek RC; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis Indiana, USA.
Musier-Forsyth K; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA. Electronic address: musier-forsyth.1@osu.edu.

J Biol Chem ; 297(4): 101203, 2021 10.

Article en En | MEDLINE | ID: mdl-34537243

Asunto(s)

Enfermedades Óseas; Diabetes Mellitus; Enfermedades Genéticas Congénitas; Glutamato-ARNt Ligasa; Mutación Missense; Estrés Fisiológico/genética; Sustitución de Aminoácidos; Enfermedades Óseas/enzimología; Enfermedades Óseas/genética; Diabetes Mellitus/enzimología; Diabetes Mellitus/genética; Enfermedades Genéticas Congénitas/enzimología; Enfermedades Genéticas Congénitas/genética; Glutamato-ARNt Ligasa/química; Glutamato-ARNt Ligasa/genética; Glutamato-ARNt Ligasa/metabolismo; Células HEK293; Humanos; Masculino

Palabras clave

aminoacyl-tRNA synthetases; compound heterozygous mutations; endoplasmic reticulum stress (ER stress); enzyme kinetics; genetic disease; glutamyl-prolyl-tRNA synthetase; multisynthetase complex; stress response; tRNA charging

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Estrés Fisiológico / Enfermedades Óseas / Mutación Missense / Diabetes Mellitus / Glutamato-ARNt Ligasa / Enfermedades Genéticas Congénitas Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Revista: J Biol Chem Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google