Juliane Najm

Untersuchungen zum Einfluss des bei Patienten mit Lowe-Syndrom mutierten humanen OCRL-Proteins auf endozytotische Prozesse in eukaryotischen Zellen (2009)

Najm, Juliane

Das Lowe-Syndrom (LS) ist eine X-chromosomal vererbte Multisystemerkrankung, die durch kongenitale Katarakt, selektive proximale Tubulopathie und mentale Retardierung gekennzeichnet ist. Mutationen...

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (2008)

Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, ...

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a...

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Kim, Hyung-Goo, Kishikawa, Shotaro, Higgins, Anne W., Seong, Ihn-Sik, Donovan, Diana J., Shen, Yiping, ...

Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an...