Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Theisen, Benjamin E; Rumyantseva, Anastasia; Cohen, Julie S; Alcaraz, Wendy A; Shinde, Deepali N; Tang, Sha; Srivastava, Siddarth; Pevsner, Jonathan; Trifunovic, Aleksandra; Fatemi, Ali

Theisen, Benjamin E; Rumyantseva, Anastasia; Cohen, Julie S; Alcaraz, Wendy A; Shinde, Deepali N; Tang, Sha; Srivastava, Siddarth; Pevsner, Jonathan; Trifunovic, Aleksandra; Fatemi, Ali.

Afiliación

Theisen BE; Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.
Rumyantseva A; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Cohen JS; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Center for Molecular Medicine and Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne, Cologne, North-Rhine Westfalia, Germany.
Alcaraz WA; Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.
Shinde DN; AmbryGenetics, Aliso Viejo, California.
Tang S; AmbryGenetics, Aliso Viejo, California.
Srivastava S; AmbryGenetics, Aliso Viejo, California.
Pevsner J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Trifunovic A; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Fatemi A; Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.

Am J Med Genet A ; 173(9): 2505-2510, 2017 Sep.

Article en En | MEDLINE | ID: mdl-28650581

Asunto(s)

Discapacidad Intelectual/genética; Leucoencefalopatías/genética; Cuadriplejía/genética; Triptófano-ARNt Ligasa/genética; Edad de Inicio; Secuencia de Aminoácidos/genética; Humanos; Lactante; Discapacidad Intelectual/fisiopatología; Leucoencefalopatías/fisiopatología; Masculino; Microcefalia; Mitocondrias/genética; Mutación; Cuadriplejía/fisiopatología; Patología del Habla y Lenguaje; Adulto Joven

Palabras clave

aminoacyl tRNA synthetase; aminoacylation; brain; intellectual disability; leukoencephalopathy; mitochondria

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cuadriplejía / Triptófano-ARNt Ligasa / Leucoencefalopatías / Discapacidad Intelectual Tipo de estudio: Etiology_studies Límite: Adult / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article

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