Browsing by Author "Borisova, Ekaterina"

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    • The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc. 

      Ambrozkiewicz, Mateusz C; Borisova, Ekaterina; Schwark, Manuela; Ripamonti, Silvia; Schaub, Theres; ... more authors ( Springer Nature , 2020 , Article)
      Kaufman oculocerebrofacial syndrome (KOS) is a severe autosomal recessive disorder characterized by intellectual disability, developmental delays, microcephaly, and characteristic dysmorphisms. Biallelic mutations of UBE3B, ...