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Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan, Yingzhou Edward; Tibbe, Debora; Harms, Frederike Leonie; Reißner, Carsten; Becker, Kerstin; Dingmann, Bri; Mirzaa, Ghayda; Kattentidt-Mouravieva, Anja A; Shoukier, Moneef; Aggarwal, Shagun; Missler, Markus; Kutsche, Kerstin; Kreienkamp, Hans-Jürgen.
Afiliação
  • Pan YE; Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Tibbe D; Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Harms FL; Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Reißner C; Institut für Anatomie und Molekulare Neurobiologie, Westfälische Wilhelms-Universität Münster, Münster, Germany.
  • Becker K; Medizinisch-Genetisches Zentrum, München, Germany.
  • Dingmann B; Medical Genetics Department, Seattle Children's Hospital, Seattle, Washington, DC, USA.
  • Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, DC, USA.
  • Kattentidt-Mouravieva AA; Department of Pediatrics, University of Washington, Seattle, Washington, DC, USA.
  • Shoukier M; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Aggarwal S; Stichting Zuidwester, Middelharnis, The Netherlands.
  • Missler M; Pränatal-Medizin München, Frauenärzte und Humangenetiker MVZ, München, Germany.
  • Kutsche K; Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Kreienkamp HJ; Institut für Anatomie und Molekulare Neurobiologie, Westfälische Wilhelms-Universität Münster, Münster, Germany.
J Neurochem ; 157(4): 1331-1350, 2021 05.
Article em En | MEDLINE | ID: mdl-33090494
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão de Célula Nervosa / Guanilato Quinases / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: J Neurochem Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão de Célula Nervosa / Guanilato Quinases / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: J Neurochem Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha