Functional analysis of kinesin-associated RNA transport granules in neurons

• Applicants: Professor Dr. Stefan Kindler; Professor Dr. Hans-Jürgen Kreienkamp
• Subject Area: General Genetics and Functional Genome Biology ; Cell Biology
• Term: from 2016 to 2020
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 313496798

No abstract available

Publications

• De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. The American Journal of Human Genetics, 101(5), 716-724.
  Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R.F.; Harel, Tamar; Eldomery, Mohammad K.; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P.A.; Gerkes, Erica H.; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M.; ... & Kreienkamp, Hans-Jürgen
  
• Germline AGO2 mutations impair RNA interference and human neurological development. Nature Communications, 11(1).
  Lessel, Davor; Zeitler, Daniela M.; Reijnders, Margot R. F.; Kazantsev, Andriy; Hassani Nia, Fatemeh; Bartholomäus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie-Rosell, Allyn; McDonald, Marie; Lozic, Bernarda; Tan, Ee-Shien; Gerkes, Erica; Johannsen, Jessika; Denecke, Jonas; Telegrafi, Aida; Zonneveld-Huijssoon, Evelien; Lemmink, Henny H.; ... & Kreienkamp, Hans-Jürgen
  
• Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine, 13(1).
  Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes; Murry, Jaclyn B.; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J.; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A.; Braathen, Geir Julius; Busk, Øyvind L.; Chenbhanich, Jirat; Denecke, Jonas; ... & Lessel, Davor
  
• Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257-272.
  Kreienkamp, Hans-Jürgen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-François; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Löbel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M. & Lessel, Davor