HACE1 deficiency leads to structural and functional neurodevelopmental defects

OBJECTIVE: We aim to characterize the causality and molecular and functional underpinnings of HACE1 deficiency in a mouse model of a recessive neurodevelopmental syndrome called spastic paraplegia and psychomotor retardation with or without seizures (SPPRS). METHODS: By exome sequencing, we identifi...

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Publicat a:Neurol Genet
Autors principals: Nagy, Vanja, Hollstein, Ronja, Pai, Tsung-Pin, Herde, Michel K., Buphamalai, Pisanu, Moeseneder, Paul, Lenartowicz, Ewelina, Kavirayani, Anoop, Korenke, Georg Christoph, Kozieradzki, Ivona, Nitsch, Roberto, Cicvaric, Ana, Monje Quiroga, Francisco J., Deardorff, Matthew A., Bedoukian, Emma C., Li, Yun, Yigit, Gökhan, Menche, Jörg, Perçin, E. Ferda, Wollnik, Bernd, Henneberger, Christian, Kaiser, Frank J., Penninger, Josef M.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6561753/
https://ncbi.nlm.nih.gov/pubmed/31321300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000330
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