Aktuelle Projekte (Auswahl):

• Translationale Identifikation von „Drug Targets“ bei Chorea Akanthozytose
• Neuronale Zellkulturmodelle (aus induzierbaren pluripotenten Stammzellen) von Mutationen der VPS13-Genfamilie
• CaChAc-Studie (kardiale Beteiligung bei Chorea Akanthozytose im Vergleich zum McLeod-Syndrom)
• Identifikation von Biomarkern für Neuroakanthozytose-Syndrome und Untersuchungen zum natürlichen Krankheitsverlauf

Patienten mit Interesse an wissenschaftlichen Studien können sich bei einer Ambulanzvorstellung hierzu näher informieren.

EMINA-2

Die „European Multidisciplinary Initiative on Neuroacanthocytosis“ war ein internationales Konsortium, das sich der Erforschung der molekularen Pathophysiologie der Chorea Akanthozytose widmete. Es wurde im Rahmen des E-Rare Programms 2009 gefördert. Prof. Andreas Hermann war Koordinator des Konsortiums. 

Kooperationspartner (Auswahl)

Prof. Dr. Giel Bosman, Radboud University Medical Centre, Nijmegen, The Netherlands

Prof. Dr. Margit Burmeister, University of Michigan, USA

Prof. Dr. Adrian Danek, LMU München, Germany

Prof. Dr. Björn Falkenburger, Universitätsklinik Carl Gustav Carus Dresden, Germany

Prof. Dr. Michael Föller, Universität Halle, Germany

Prof. Dr. Lucia De Franceschi, University of Verona, Italy

Prof. Dr. Florian Lang, Universität Tübingen, Germany

Prof. Dr. Lars Kaestner, Universität des Saarlandes, Germany

Prof. Dr. Rainer Ordemann, Universitätsklinik Carl Gustav Carus Dresden, Germany

PD Dr. Silvio Quick, Klinikum Chemnitz, Germany

Prof. Dr. Ody Sibon, UMCG, Groningen, The Netherlands

Recktenwald SM, Lopes MGM, Peter S, Hof S, Simionato G, Peikert K, Hermann A, Danek A, van Bentum K, Eichler H, Wagner C, Quint S and Kaestner L.  Erysense, a Lab-on-a-Chip-Based Point-of-Care Device to Evaluate Red Blood Cell Flow Properties With Multiple Clinical Applications. Front. Physiol. April 2022; 13:884690

Reichel F, Kräter M, Peikert K, Glaß H, Rosendahl P, Herbig M, Rivera Prieto A, Kihm A, Bosman G, Kaestner L, Hermann A, Guck J. Changes in Blood Cell Deformability in Chorea Acanthocytosis and Effects of Treatment With Dasatinib or Lithium. Front. Physiol. April 2022 13:852946.

Peikert K, Hermann A, Danek A. XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease. Transfus Med Hemother 2022;49:4-12.

Federti E, Matte A, Riccardi V, Peikert K, Alper SL, Danek A, Walker RH, Siciliano A, Iatcenko I, Hermann A, De Franceschi L. Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from Mouse Model of Chorea-Acanthocytosis. Antioxidants. 2022; 11(1):76.

Jung HH, Danek A, Walker RH, Frey BM, Peikert K. McLeod Neuroacanthocytosis Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2004 Dec 3 [updated 2021 Sep 16].

Quick S, Heidrich FM, Winkler MV, Winkler AH, Ibrahim K, Linke A, Speiser U, Grabmaier U, Buhmann C, Marxreiter F, Saft C, Danek A, Hermann A, Peikert K. Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome. Parkinsonism Relat Disord. 2021 Jul;88:90-95.

Peikert K*, Federti E*, Matte A, Constantin G, Pietronigro EC, Fabene PF, Defilippi P, Turco E, Del Gallo F, Pucci P, Amoresano A, Illiano A, Cozzolino F, Monti M, Garello F, Terreno E, Alper SL, Glaß H, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, Brunati AM, Tibaldi E, Andolfo I, Iolascon A, Bertini G, Buffelli M, Zancanaro C, Lorenzetto E, Siciliano A, Bonifacio M, Danek A, Walker RH, Hermann A*, De Franceschi L*. Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis. Acta Neuropathol Commun. May 2021; 9:81. doi:10.1186/s40478-021-01181-y . *contributed equally.

Peikert K, Glaß H, Federti E, Matte A, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, The Network for Translational Research for Neuroacanthocytosis Patients, De Franceschi L*, Hermann A*. Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease. Journal of Personalized Medicine. May 2021; 11(5):392. doi.org/10.3390/jpm11050392 . *contributed equally.

Rabe A*, Kihm A*, Darras A*, Peikert K*, Simionato G*, Dasanna AK*, Glaß H, Geisel J, Quint S, Danek A, Wagner C, Fedosov DA, Hermann A, Kaestner L. The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib. Biomolecules. May 2021; 11(5):727. doi.org/10.3390/biom11050727 . *contributed equally.

Darras A*, Peikert K*, Rabe A, Yaya F, Simionato G, John T, Dasanna AK, Buvalyy S, Geisel J, Hermann A, Fedosov DA, Danek A, Wagner C, Kaestner L. Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification.
Cells. April 2021; 10(4):788. doi.org/10.3390/cells10040788 . *contributed equally

Peikert K, Akgün K, Beste C, Ziemssen T, Buhmann C, Danek A, Hermann A.
Neurofilament light chain in serum is significantly increased in chorea-acanthocytosis.
Parkinsonism Relat Disord. 2020 Sep 7;80:28-31. doi: 10.1016/j.parkreldis.2020.09.004 . Epub ahead of print.

Glaß H, Neumann P, Pal A, Reinhardt P, Storch A, Sterneckert J, Hermann A.
Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
Int. J. Mol. Sci. 2020 March 5, 21(5), 1797; doi: 10.3390/ijms21051797 Free Full Text

Peikert K, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. European Journal of Medical Genetics. 2018;61(11):699-705.

Peikert K, Hermann A. Proceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes. Tremor and other hyperkinetic movements (New York, NY). 2018;8:579.

Glass H, Pal A, Reinhardt P, …, Storch A, Hermann A. Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling. Molecular and cellular neurosciences. 2018;92:137-148.

Hermann A. Neuroacanthocytosis syndromes, in: C., F.-P., J., F., P., M.-M., K, C. (Eds.), Movement Disorders Curricula. Springer, Vienna, 2017.

Hermann A & Walker RH. Diagnosis and Treatment of Chorea Syndromes; Current Neurology and Neuroscience Reports, Jan 2015, 15:1

Hermann A, Chapter 3: Chorea-acanthocytosis, in Chorea, F.E. Micheli, P.A. LeWitt (eds.), Springer, 2017, p.31-55

Stanslowsky N*, Reinhardt P*, Glass H, Kalmbach N, Naujock M, Lübben V, Hensel N, Pal A, Venneri A, De Franceschi L, Claus P, Sterneckert J, Storch A, Hermann A*, Wegner F*. Neuronal dysfunction in iPSC-derived medium spiny neurons from Chorea-Acanthocytosis patients is reversed by Src kinase inhibition and F-actin stabilization, J Neurosci, 2016 Nov 23;36(47):12027-12043., *contributed equally

Pelzl L, Elsir B, Sahu I, Bissinger R, Singh Y, Sukkar B, Honisch S, Schoels L, Jemaà M, Lang E, Storch A, Hermann A, Stournaras C, Lang F. Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients. Cell Physiol Biochem. 2017 Aug 11;42(5):2066-2077.

Föller M*, Hermann A*, Gu S, Alesutan I, Qadri SM, Borst O, Schmidt E-M, Schiele F, Müller vom Hagen I, Saft C, Schöls L, Lerche H, Stournaras C, Storch A*, Lang F*, 2012, Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis, FASEB J. 26(4): 1526-1534 *contributed equally

Pappas SS, Bonifacino J, Danek A, Dauer WT, De M, De Franceschi L, DiPaolo G, Fuller R, Haucke V, Hermann A, Kornmann B, Landwehrmeyer B, Levin J, Neiman AM, Rudnicki DD, Sibon O, Velayos-Baeza A, Vonk JJ, Walker RH, Weisman LS, Albin RL. Eighth International Chorea–Acanthocytosis Symposium: summary of workshop discussion and action points. Tremor Other Hyperkinet Mov. 2017; 15;7:428.

Lupo F, Tibaldi E, Matte A, Sharma AK, Brunati AM, Alper SL, Zancanaro C, Benati D, Siciliano A, Bertoldi M, Zonti F, Storch A, Walker RH, Danek A, Bader B, Hermann A, De Franceschi L. Impaired autophagy is involved in abnormalities of erythroid cells from patients with chorea-acanthocytosis. Blood, 2016 Dec 22;128(25):2976-2987.

Honisch S, Gu S, Vom Hagen JM, Alkahtani S, Al Kahtane AA, Tsapara A, Hermann A, Storch A, Schöls L, Lang F, Stournaras C. Chorein Sensitive Arrangement of Cytoskeletal Architecture. Cell Physiol Biochem. 2015;37(1):399-408.

Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U. Alterations of red cell membrane properties in neuroacanthocytosis. PLoS One. 2013 Oct 3;8(10):e76715.

Schmidt EM, Schmid E, Münzer P, Hermann A, Eyrich AK, Russo A, Walker B, Gu S, Müller Vom Hagen J, Faggio C, Schaller M, Föller M, Schöls L, Gawaz M, Borst O, Storch A, Stournaras C, Lang F, Chorein sensitivity of cytoskeletal organization and degranulation of platelets. FASEB J., 27(7):2799-806