Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins.

Viera Ortiz, Ashley P; Cajka, Gregory; Olatunji, Olamide A; Mikytuck, Bailey; Shalem, Ophir; Lee, Edward B

Viera Ortiz, Ashley P; Cajka, Gregory; Olatunji, Olamide A; Mikytuck, Bailey; Shalem, Ophir; Lee, Edward B.

Afiliación

Viera Ortiz AP; Biochemistry and Molecular Biophysics Graduate Group, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Cajka G; Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Olatunji OA; Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Mikytuck B; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Shalem O; Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Lee EB; Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

Brain ; 146(7): 2897-2912, 2023 07 03.

Article en En | MEDLINE | ID: mdl-36516294

Asunto(s)

Esclerosis Amiotrófica Lateral; Demencia Frontotemporal; Enfermedades Neurodegenerativas; Animales; Humanos; Dipéptidos/genética; Proteína C9orf72/genética; Proteína C9orf72/metabolismo; Esclerosis Amiotrófica Lateral/metabolismo; Enfermedades Neurodegenerativas/genética; Ribosomas; Expansión de las Repeticiones de ADN/genética; Demencia Frontotemporal/genética; Mamíferos/genética; Mamíferos/metabolismo

Palabras clave

C9orf72; ALS/FTD; NEMF; RAN translation; ribosome-associated quality control

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

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