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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurol Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer 2019
Pynciau:
Article
Mynediad Ar-lein: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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