Mayo Clinic - AuthorCitation

Effects of Neuromyelitis Optica(NMO)-IgG for leukocyte transmigration at the Blood-Brain Barrier (S46.003)

Takeshita, Yukio , Obermeier, Birgit , Cotleur, Anne C. , Kryzer, Thomas J., Lennon, Vanda A. , Sano, Yasuteru , Kanda, Takashi , Ransohoff, Richard M. , Cotleur, Anne C , Shimizu, Fumitaka , Spampinato, Simona Federica

Neurology | December 6, 2023 | Volume: 84 | Issue: 14_supplement | Pages: No page available

10.1212/wnl.84.14_supplement.s46.003

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

Helman, Guy , Zarekiani, Parand , Tromp, Samantha A. M., Andrews, Ashley , Bonkowsky, Joshua L. , Chassevent, Anna , Giorgio, Elisa , Pippucci, Tommaso , Wei, Shen, Smith‐Hicks, Constance , Vaula, Giovanna , Schimmel, Mareike , Vollert, Kurt, Shimizu, Fumitaka , Kanda, Takashi , Lynch, Matthew , Roscioli, Tony , Taft, Ryan J. , Simons, Cas , Bugiani, Marianna , Shen, Wei , Bonkowsky, Joshua L , Willemsen, Michèl A A P , Shimizu, Fumitaka , van der Knaap, Marjo S , Shen, Wei , Giorgio, Elisa , Simons, Cas , Botto, Lorenzo D. , Kuijpers, Taco Willem , Knaap, Marjo S. van der

Annals of Neurology | August 10, 2022 | Volume: 92 | Issue: 5 | Pages: 895-901

NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams‐Oliver syndrome, and cardiovascular defects. We describe 7 unrelated patients grouped by the presence of leukoencephalopathy with calcifications and heterozygous de novo gain‐of‐function variants in NOTCH1. Immunologic profiling showed upregulated CSF IP‐10, a cytokine secreted downstream of NOTCH1 signaling. Autopsy revealed extensive leukoencephalopathy and microangiopathy with vascular calcifications. This evidence implicates that heterozygous gain‐of‐function variants in NOTCH1 lead to a chronic central nervous system (CNS) inflammatory response resulting in a calcifying microangiopathy with leukoencephalopathy. ANN NEUROL 2022;92:895–901

Glucose-regulated protein 78 autoantibody associates with blood-brain barrier disruption in neuromyelitis optica

Schaller, K , Owens, Gregory P. , Cotleur, Anne C. , Kellner, Debra , Takeshita, Yukio , Obermeier, Birgit , Kryzer, Thomas J., Sano, Yasuteru , Kanda, Takashi , Lennon, Vanda A. , Ransohoff, Richard M. , Bennett, Jeffrey L. , Shimizu, Fumitaka , Schaller, Kristin L , Kellner, Debra , Obermeier, Birgit , Sano, Yasuteru , Kanda, Takashi , Ransohoff, Richard M , Bennett, Jeffrey L , Shimizu, Fumitaka , Cotleur, Anne C

Science Translational Medicine | October 12, 2017 | Volume: 9 | Issue: 397 | Pages: No page available

10.1126/scitranslmed.aai9111

An autoantibody target on brain microvascular endothelial cells in patients with neuromyelitis optica may be exploited to manipulate blood-brain barrier permeability.

Effects of neuromyelitis optica–IgG at the blood–brain barrier in vitro

Takeshita, Yukio , Obermeier, Birgit , Cotleur, Anne C. , Spampinato, Simona Federica , Yamamoto, Erin , Sano, Yasuteru , Kryzer, Thomas J., Lennon, Vanda A. , Kanda, Takashi , Ransohoff, Richard M. , Spampinato, Simona F, Shimizu, Fumitaka , Cotleur, Anne C

Neurology Neuroimmunology & Neuroinflammation | December 19, 2016 | Volume: 4 | Issue: 1 | Pages: No page available

10.1212/nxi.0000000000000311