Bernd Wollnik

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About Bernd Wollnik:

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SEEK ID: https://goeseek.gwdguser.de/people/9

Location: Germany

ORCID: https://orcid.org/0000-0003-2589-0364

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Sonderforschungsbereiche/Collaborative Research Centers

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Projects: CRC1002: Modulatory Units in Heart Failure, TRR 274: Checkpoints of Central Nervous System Recovery, SFB 1190: Compartmental Gates and Contact Sites in Cells

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CRC1002: Modulatory Units in Heart Failure

https://sfb1002.med.uni-goettingen.de/ (Research Data Platform) https://gepris.dfg.de/gepris/projekt/193793266?language=en (DFG Gepris entry) With a prevalence of between two and four percent, heart failure remains one of the most common diseases in Europe. Although tremendous progress has been made in its treatment, the morbidity and mortality of affected patients remains high. Advanced heart failure can still only be treated palliatively.We define modulatory units as cell-based and/or genetic ...

Programme: Sonderforschungsbereiche/Collaborative Research Centers

Public web page: https://herzzentrum.umg.eu/forschung/forschungsverbuende/sfb-1002/

Start date: 1st Jul 2012

End date: 30th Jun 2024

Organisms: Human, Mouse

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University Medical Center Göttingen

Country: Germany

City: Göttingen

Web page: https://ror.org/021ft0n22

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Biallelic variants in YRDC cause a developmental disorder with progeroid features.

CRC1002: Modulatory Units in Heart Failure

Abstract (Expand)

The highly conserved YrdC domain-containing protein (YRDC) interacts with the well-described KEOPS complex, regulating specific tRNA modifications to ensure accurate protein synthesis. Previous studies …

Authors: J. Schmidt, J. Goergens, T. Pochechueva, A. Kotter, N. Schwenzer, M. Sitte, G. Werner, J. Altmuller, H. Thiele, P. Nurnberg, J. Isensee, Y. Li, C. Muller, B. Leube, H. C. Reinhardt, T. Hucho, G. Salinas, M. Helm, R. D. Jachimowicz, D. Wieczorek, T. Kohl, S. E. Lehnart, G. Yigit, B. Wollnik

Date Published: 22nd Sep 2021

Publication Type: Journal

PubMed ID: 34545459

Citation: Hum Genet. 2021 Dec;140(12):1679-1693. doi: 10.1007/s00439-021-02347-3. Epub 2021 Sep 20.

Created: 24th May 2023 at 12:47

Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.

CRC1002: Modulatory Units in Heart Failure

Abstract

[Figure: see text].

Authors: J. Peper, D. Kownatzki-Danger, G. Weninger, F. Seibertz, J. R. D. Pronto, H. Sutanto, D. Pacheu-Grau, R. Hindmarsh, S. Brandenburg, T. Kohl, G. Hasenfuss, M. Gotthardt, E. A. Rog-Zielinska, B. Wollnik, P. Rehling, H. Urlaub, J. Wegener, J. Heijman, N. Voigt, L. Cyganek, C. Lenz, S. E. Lehnart

Date Published: 19th Mar 2021

Publication Type: Journal

PubMed ID: 33486968

Citation: Circ Res. 2021 Mar 19;128(6):e102-e120. doi: 10.1161/CIRCRESAHA.119.316547. Epub 2021 Jan 25.

Created: 24th May 2023 at 12:16

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.

CRC1002: Modulatory Units in Heart Failure

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Abstract (Expand)

BACKGROUND: Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinically variable symptoms, such as typical facial dysmorphisms, short stature, developmental delay, … intellectual disability as well as cardiac hypertrophy. The underlying mechanism is a gain-of-function of the RAS-mitogen-activated protein kinase signaling pathway. However, our understanding of the pathophysiological alterations and mechanisms, especially of the associated cardiomyopathy, remains limited and effective therapeutic options are lacking. METHODS: Here, we present a family with two siblings displaying an autosomal recessive form of NS with massive hypertrophic cardiomyopathy as clinically the most prevalent symptom caused by biallelic mutations within the leucine zipper-like transcription regulator 1 (LZTR1). We generated induced pluripotent stem cell-derived cardiomyocytes of the affected siblings and investigated the patient-specific cardiomyocytes on the molecular and functional level. RESULTS: Patients' induced pluripotent stem cell-derived cardiomyocytes recapitulated the hypertrophic phenotype and uncovered a so-far-not-described causal link between LZTR1 dysfunction, RAS-mitogen-activated protein kinase signaling hyperactivity, hypertrophic gene response and cellular hypertrophy. Calcium channel blockade and MEK inhibition could prevent some of the disease characteristics, providing a molecular underpinning for the clinical use of these drugs in patients with NS, but might not be a sustainable therapeutic option. In a proof-of-concept approach, we explored a clinically translatable intronic CRISPR (clustered regularly interspaced short palindromic repeats) repair and demonstrated a rescue of the hypertrophic phenotype. CONCLUSIONS: Our study revealed the human cardiac pathogenesis in patient-specific induced pluripotent stem cell-derived cardiomyocytes from NS patients carrying biallelic variants in LZTR1 and identified a unique disease-specific proteome signature. In addition, we identified the intronic CRISPR repair as a personalized and in our view clinically translatable therapeutic strategy to treat NS-associated hypertrophic cardiomyopathy.

Authors: U. Hanses, M. Kleinsorge, L. Roos, G. Yigit, Y. Li, B. Barbarics, I. El-Battrawy, H. Lan, M. Tiburcy, R. Hindmarsh, C. Lenz, G. Salinas, S. Diecke, C. Muller, I. Adham, J. Altmuller, P. Nurnberg, T. Paul, W. H. Zimmermann, G. Hasenfuss, B. Wollnik, L. Cyganek

Date Published: 15th Sep 2020

Publication Type: Journal

PubMed ID: 32623905

Citation: Circulation. 2020 Sep 15;142(11):1059-1076. doi: 10.1161/CIRCULATIONAHA.119.044794. Epub 2020 Jul 6.

Created: 30th May 2023 at 14:27

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