Gestörte selektive Autophagie bei FAM134B-assoziierter Neuropathie

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Projektbezogene Publikationen (Auswahl)

• Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering. Cell Rep. 2018 May 15;23(7):2026-2038
  Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Müller FJ, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S
  
• A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. Cell Mol Life Sci. 2019 Apr;76(7):1433-1445
  Behrendt L, Kurth I, Kaether C
  
• Sensory neuropathy-causing mutations in ATL3 affect ER- mitochondria contact sites and impair axonal mitochondrial distribution. Hum Mol Genet. 2019 Feb 15;28(4):615-627
  Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S
  
• ER-phagy and human diseases. Cell Death Differ. 2020 Mar;27(3):833-842
  Hübner CA, Dikic I
  
• MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B. EMBO J. 2020 Sep 1;39(17):e105696
  Cinque L, De Leonibus C, Iavazzo M, Krahmer N, Intartaglia D, Salierno FG, De Cegli R, Di Malta C, Svelto M, Lanzara C, Maddaluno M, Wanderlingh LG, Huebner AK, Cesana M, Bonn F, Polishchuk E, Hübner CA, Conte I, Dikic I, Mann M, Ballabio A, Sacco F, Grumati P, Settembre C
  
• Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control. EMBO Rep. 2021 Sep 6;22(9):e52289
  Reggio A, Buonomo V, Berkane R, Bhaskara RM, Tellechea M, Peluso I, Polishchuk E, Di Lorenzo G, Cirillo C, Esposito M, Hussain A, Huebner AK, Hübner CA, Settembre C, Hummer G, Grumati P, Stolz A