Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in genes encoding autophagy-related proteins. We report three i...

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Detalles Bibliográficos
Autores principales: Morimoto, Marie, Bhambhani, Vikas, Gazzaz, Nour, Davids, Mariska, Sathiyaseelan, Paalini, Macnamara, Ellen F., Lange, Jennifer, Lehman, Anna, Zerfas, Patricia M., Murphy, Jennifer L., Acosta, Maria T., Wang, Camille, Alderman, Emily, Reichert, Sara, Thurm, Audrey, Adams, David R., Introne, Wendy J., Gorski, Sharon M., Boerkoel, Cornelius F., Gahl, William A., Tifft, Cynthia J., Malicdan, May Christine V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918471/
https://www.ncbi.nlm.nih.gov/pubmed/36765070
http://dx.doi.org/10.1038/s41525-022-00343-8

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