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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Bibliografiska uppgifter
I publikationen:Neurol Genet
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wolters Kluwer 2019
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Article
Länkar: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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