Verena Schöwel
Charité
Endothelial stem cellInternal medicineGeologySleeping Beauty transposon systemEndocrinologyGene deliveryPathologyMutantMembrane proteinCellTransposaseITGA7Developmental biologyCytoplasmSarcolemmaProtein foldingMyocyteAdult stem cellGrowth factorDystrophySatellite (biology)Animal modelLimb-girdle muscular dystrophyExon skippingMuscle spindleMuscular dystrophyDysferlinopathySkeletal muscleNucleusStem cellPopulationPhenylbutyrateTargeted MutationTransplantationCell cycleExonDysferlinMyogenesisCompartmentalization (psychology)Transposable elementMutationCancer researchConnective tissueGeneticsRemote sensingComputational biologyMedicineMissense mutationBiologyCell biology
8Publications
5H-index
68Citations
Publications 8
Newest
#1Kana Tominaga (MIT: Massachusetts Institute of Technology)H-Index: 1
#2Naoomi Tominaga (MIT: Massachusetts Institute of Technology)H-Index: 12
Last. Leonard Guarente (MIT: Massachusetts Institute of Technology)H-Index: 153
view all 8 authors...
Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin ( DYSF), a membrane protein involved in skeletal muscle membrane repair. We describe a cell-based assay in which human DYSF proteins bearing missense mutations are quantitatively assayed for membrane-localization by flow cytometry, and identified 64 localization-defective DYSF mutations. Using this platform, we show that the clinically approved drug 4-phenylbutryric acid (4-PBA) partially resto...
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#1Minchul Kim (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 3
#1Minchul KimH-Index: 13
Last. Carmen BirchmeierH-Index: 89
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Syncytial skeletal muscle cells contain hundreds of nuclei in a shared cytoplasm. We investigated nuclear heterogeneity and transcriptional dynamics in the uninjured and regenerating muscle using single-nucleus RNA-sequencing (snRNAseq) of isolated nuclei from muscle fibers. This revealed distinct nuclear subtypes unrelated to fiber type diversity, previously unknown subtypes as well as the expected ones at the neuromuscular and myotendinous junctions. In fibers of the Mdx dystrophy mouse model,...
19 CitationsSource
#1Jakub Malcher (French Institute of Health and Medical Research)H-Index: 1
#2Leonie Victoria Heidt (Charité)H-Index: 1
Last. Verena Schöwel (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 5
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Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and progressive muscle wasting. Dysferlin-null mouse models do not allow study of the consequences of missense mutations. We generated a new mouse model (MMex38) carrying a missense mutation in exon 38 in analogy to a clinically relevant human DYSF ...
7 CitationsSource
#1Joscha Griger (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 3
#2Robin Schneider (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 1
Last. Carmen Birchmeier (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 89
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The equilibrium between proliferation and quiescence of myogenic progenitor and stem cells is tightly regulated to ensure appropriate skeletal muscle growth and repair. The non-receptor tyrosine phosphatase Ptpn11 (Shp2) is an important transducer of growth factor and cytokine signals. Here we combined complex genetic analyses, biochemical studies and pharmacological interference to demonstrate a central role of Ptpn11 in postnatal myogenesis of mice. Loss of Ptpn11 drove muscle stem cells out o...
8 CitationsSource
#1Joscha Griger (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 3
#2Robin Schneider (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 1
Last. Carmen Birchmeier (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 89
view all 8 authors...
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#1Helena Escobar (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 4
#2Verena Schöwel (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 5
Last. Zsuzsanna Izsvák (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 60
view all 5 authors...
Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb. Sleeping Beauty (SB) transposon is a nonviral gene transfer vector, already used in clinical trials. The hyperactive SB system consists of a transposon DNA sequence and a transposase protein, SB100X, that can integrate DNA over 10 kb into the target genome....
21 CitationsSource
#2Michael Bader (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 117
Last. Verena Schöwel (Charité)H-Index: 5
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#1Ute Zacharias (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 7
#2Bettina Purfürst (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 14
Last. Hannelore Haase (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 36
view all 6 authors...
Ahnak1 is a giant, ubiquitously expressed, plasma membrane support protein whose function in skeletal muscle is largely unknown. Therefore, we investigated whether ahnak would be influenced by alterations of the sarcolemma exemplified by dysferlin mutations known to render the sarcolemma vulnerable or by mutations in calpain3, a protease known to cleave ahnak. Human muscle biopsy specimens obtained from patients with limb girdle muscular dystrophy (LGMD) caused by mutations in dysferlin (LGMD2B)...
21 CitationsSource