Giulia Mearini
University of Hamburg
30Publications
15H-index
786Citations
Publications 30
Newest
Published on Jul 3, 2018in Pflügers Archiv: European Journal of Physiology 2.77
Maksymilian Prondzynski6
Estimated H-index: 6
(University of Hamburg),
Giulia Mearini15
Estimated H-index: 15
(University of Hamburg),
Lucie Carrier42
Estimated H-index: 42
(University of Hamburg)
Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with an estimated prevalence of 1:200 caused by mutations in sarcomeric proteins. It is associated with hypertrophy of the left ventricle, increased interstitial fibrosis, and diastolic dysfunction for heterozygous mutation carriers. Carriers of double heterozygous, compound heterozygous, and homozygous mutations often display more severe forms of cardiomyopathies, ultimately leading to premature death. So far, there is no cura...
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Published on Jun 1, 2017in Molecular therapy. Nucleic acids 5.66
Maksymilian Prondzynski6
Estimated H-index: 6
(University of Hamburg),
Elisabeth Krämer14
Estimated H-index: 14
(University of Hamburg)
+ 11 AuthorsHansenArne21
Estimated H-index: 21
(University of Hamburg)
Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans -splicing, exon skipping, and gene replacement in a mouse model of hypertrophic cardiomyopathy (HCM) carrying a mutation in MYBPC3 , encoding cardiac myosin-binding protein C (cMyBP-C). Here we used human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from an HCM patient carrying a heterozygous c.1358-1359insC MYBPC3 mutation and from a healthy d...
14 Citations Source Cite
Published on May 11, 2017in Nature Protocols 12.42
Kaja Breckwoldt6
Estimated H-index: 6
,
David Letuffe-Brenière2
Estimated H-index: 2
+ 19 AuthorsSandra Laufer2
Estimated H-index: 2
This protocol describes how to generate defined embryoid bodies and subsequent standardized beating engineered heart tissue from human iPSCs using small molecules.
22 Citations Source Cite
Published on Aug 1, 2016in Journal of Molecular and Cellular Cardiology 5.30
Paul J.M. Wijnker12
Estimated H-index: 12
(University of Hamburg),
Felix W. Friedrich12
Estimated H-index: 12
(University of Hamburg)
+ 7 AuthorsLucie Carrier42
Estimated H-index: 42
(University of Hamburg)
Abstract Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. The most frequently mutated gene is MYBPC3 , encoding cardiac myosin-binding protein-C (cMyBP-C). We compared the pathomechanisms of a truncating mutation (c.2373_2374insG) and a missense mutation (c.1591G>C) in MYBPC3 in engineered heart tissue (EHT). EHTs enable to study the direct effects of mutants without interference of second...
12 Citations Source Cite
Published on Oct 1, 2016in Journal of Cardiac Failure 3.94
Julia Münch5
Estimated H-index: 5
,
Maxim Avanesov7
Estimated H-index: 7
(University of Hamburg)
+ 7 AuthorsMonica Patten4
Estimated H-index: 4
Abstract Background Hypertrophic cardiomyopathy (HCM) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia (VT), and myocardial fibrosis reflects an important risk factor. Several matrix metalloproteinases (MMPs) and procollagen N-terminal propeptides (PNPs) are involved in collagen turnover and discussed as fibrosis biomarkers. We aimed to identify biomarkers that correlate with myocardial fibrosis in late-gadolinium-enhancement cardiac magnetic resonance ...
8 Citations Source Cite
Published on Dec 1, 2015in Gene 2.50
Lucie Carrier42
Estimated H-index: 42
(University of Hamburg),
Giulia Mearini15
Estimated H-index: 15
(University of Hamburg)
+ 1 AuthorsFriederike Cuello6
Estimated H-index: 6
(University of Hamburg)
Abstract More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in card...
41 Citations Source Cite
Published on Jul 15, 2014in Cardiovascular Research 6.29
Giulia Mearini15
Estimated H-index: 15
(University of Hamburg),
D Simpel (University of Hamburg)+ 6 AuthorsEschenhagenThomas65
Estimated H-index: 65
(University of Hamburg)
Purpose: Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) and diastolic dysfunction, and is frequently caused by MYBPC3 mutations, which mainly result in haploinsufficiency of cardiac myosin-binding protein C (cMyBP-C). We recently provided proof-of-concept studies that adeno-associated virus (AAV)-mediated RNA-based therapies (exon skipping and trans-splicing) remove the mutation in a homozygous Mybpc3-targeted knock-in (KI) mouse model of HCM. However, t...
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Published on Nov 11, 2014in Journal of the American Heart Association 4.45
Atsushi Tanaka35
Estimated H-index: 35
(Saga University),
Shinsuke Yuasa31
Estimated H-index: 31
(Keio University)
+ 16 AuthorsTomoyuki Suzuki14
Estimated H-index: 14
(Keio University)
BackgroundDespite the accumulating genetic and molecular investigations into hypertrophic cardiomyopathy (HCM), it remains unclear how this condition develops and worsens pathologically and clinically in terms of the genetic–environmental interactions. Establishing a human disease model for HCM would help to elucidate these disease mechanisms; however, cardiomyocytes from patients are not easily obtained for basic research. Patient‐specific induced pluripotent stem cells (iPSCs) potentially hold...
54 Citations Source Cite
Published on Dec 1, 2014in Nature Communications 12.35
Giulia Mearini15
Estimated H-index: 15
,
Doreen Stimpel3
Estimated H-index: 3
+ 13 AuthorsPaul J.M. Wijnker12
Estimated H-index: 12
Hereditary hypertrophic cardiomyopathy (HCM) is caused by mutations in cardiomyocyte genes, such as MYBPC3. Here, the authors use virus-mediated gene therapy to correct Mycbpc3 mutations in 1-day-old mice and, by administering just a single dose, prevent development of HCM over a period of 34 weeks.
56 Citations Source Cite
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