J
Juliane Najm
Publications - 4
Citations - 868
Juliane Najm is an academic researcher. The author has contributed to research in topics: Microcephaly & CASK. The author has an hindex of 4, co-authored 4 publications receiving 810 citations.
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Journal ArticleDOI
Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
Hyung Goo Kim,Shotaro Kishikawa,Anne W. Higgins,Ihn Sik Seong,Diana J. Donovan,Yiping Shen,Eric Lally,Lauren A. Weiss,Lauren A. Weiss,Juliane Najm,Kerstin Kutsche,Maria Descartes,Lynn Holt,Stephen R. Braddock,Robin Troxell,Lee M. Kaplan,Fred R. Volkmar,Ami Klin,Katherine D. Tsatsanis,David J. Harris,Ilse Noens,David L. Pauls,Mark J. Daly,Mark J. Daly,Marcy E. MacDonald,Marcy E. MacDonald,Cynthia C. Morton,Cynthia C. Morton,Bradley J. Quade,James F. Gusella +29 more
TL;DR: A number of rare sequence variants in the coding region, including two missense changes in conserved residues of the alpha-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD.
Journal ArticleDOI
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Juliane Najm,Denise Horn,Isabella Wimplinger,Jeffrey A. Golden,Victor V. Chizhikov,Jyotsna Sudi,Susan L. Christian,Reinhard Ullmann,Alma Kuechler,Carola A. Haas,Armin Flubacher,Lawrence Charnas,Gökhan Uyanik,Ulrich Frank,Eva Klopocki,William B. Dobyns,Kerstin Kutsche +16 more
TL;DR: A previously unreported X-linked brain malformation syndrome caused by mutations of CASK is described, with all five affected individuals with CASK mutations having congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.
Journal ArticleDOI
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module
Vanessa A. van Rahden,Kristina Brand,Juliane Najm,Joerg Heeren,Suzanne R. Pfeffer,Thomas Braulke,Kerstin Kutsche +6 more
TL;DR: The data suggest that PI(4,5)P(2) dephosphorylation through OCRL regulates a Rac1-cofilin signalling cascade implicated in MPR trafficking from endosomes to the TGN.
Journal ArticleDOI
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (Nature Genetics (2008) 40, (1065-1067))
Juliane Najm,Denise Horn,Isabella Wimplinger,Jeffrey A. Golden,Victor V. Chizhikov,Jyotsna Sudi,Susan L. Christian,Reinhard Ullmann,Alma Kuechler,Carola A. Haas,Armin Flubacher,Lawrence Charnas,Gökhan Uyanik,Ulrich Frank,Eva Klopocki,William B. Dobyns,Kerstin Kutsche +16 more
TL;DR: The protein interacting with CASK is the CASK interacting nucleosome assembly protein (CINAP/TSPYL2) and not the TATA-binding protein associated factor TAF9.