Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.

Iyer, Chitra C; Corlett, Kaitlyn M; Massoni-Laporte, Aurélie; Duque, Sandra I; Madabusi, Narasimhan; Tisdale, Sarah; McGovern, Vicki L; Le, Thanh T; Zaworski, Phillip G; Arnold, W David; Pellizzoni, Livio; Burghes, Arthur H M

Iyer, Chitra C; Corlett, Kaitlyn M; Massoni-Laporte, Aurélie; Duque, Sandra I; Madabusi, Narasimhan; Tisdale, Sarah; McGovern, Vicki L; Le, Thanh T; Zaworski, Phillip G; Arnold, W David; Pellizzoni, Livio; Burghes, Arthur H M.

Afiliación

Iyer CC; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Corlett KM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Massoni-Laporte A; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Duque SI; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Madabusi N; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Tisdale S; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.
McGovern VL; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Le TT; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Zaworski PG; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Arnold WD; PharmOptima, LLC, Portage, MI, USA.
Pellizzoni L; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Burghes AHM; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.

Hum Mol Genet ; 27(19): 3404-3416, 2018 10 01.

Article en En | MEDLINE | ID: mdl-29982416

Asunto(s)

Atrofia Muscular Espinal/genética; Ribonucleoproteínas Nucleares Pequeñas/genética; Proteínas del Complejo SMN/genética; Alelos; Animales; Caenorhabditis elegans/genética; Línea Celular; Modelos Animales de Enfermedad; Drosophila melanogaster/genética; Exones/genética; Humanos; Ratones; Ratones Transgénicos; Neuronas Motoras/metabolismo; Neuronas Motoras/patología; Atrofia Muscular Espinal/metabolismo; Atrofia Muscular Espinal/patología; Mutación Missense; Ribonucleoproteínas Nucleares Pequeñas/química; Proteínas del Complejo SMN/química; Proteína 2 para la Supervivencia de la Neurona Motora/química; Proteína 2 para la Supervivencia de la Neurona Motora/genética; Pez Cebra/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Ribonucleoproteínas Nucleares Pequeñas / Proteínas del Complejo SMN Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

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