Search Results - "Berwanger, Carolin"
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Clinorotation inhibits myotube formation by fluid motion, not by simulated microgravity
Published in European journal of cell biology (01-06-2023)“…To study processes related to weightlessness in ground-based cell biological research, a theoretically assumed microgravity environment is typically simulated…”
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Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Published in Acta neuropathologica (01-09-2016)“…Secondary mitochondrial dysfunction is a feature in a wide variety of human protein aggregate diseases caused by mutations in different proteins, both in the…”
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Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria
Published in European journal of cell biology (01-06-2024)“…Desmin gene mutations cause myopathies and cardiomyopathies. Our previously characterised R349P desminopathy mice, which carry the ortholog of the common human…”
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Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
Published in International journal of molecular sciences (01-10-2022)“…Desmin mutations cause familial and sporadic cardiomyopathies. In addition to perturbing the contractile apparatus, both desmin deficiency and mutated desmin…”
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Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice
Published in PloS one (03-03-2020)“…Mutations in the human desmin gene (DES) cause autosomal-dominant and -recessive cardiomyopathies, leading to heart failure, arrhythmias, and AV blocks. We…”
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An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?
Published in Muscles (15-03-2024)“…SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a…”
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Coronin 1C-free primary mouse fibroblasts exhibit robust rearrangements in the orientation of actin filaments, microtubules and intermediate filaments
Published in European journal of cell biology (01-08-2016)“…Coronin 1C is an established modulator of actin cytoskeleton dynamics. It has been shown to be involved in protrusion formation, cell migration and invasion…”
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Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice
Published in Circulation (New York, N.Y.) (01-12-2020)“…BACKGROUND:Mutations in the human desmin gene cause myopathies and cardiomyopathies. This study aimed to elucidate molecular mechanisms initiated by the…”
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Effects of long‐term immobilisation on endomysium of the soleus muscle in humans
Published in Experimental physiology (01-10-2021)“…New Findings What is the central question of this study? While muscle fibre atrophy in response to immobilisation has been extensively examined, intramuscular…”
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N471D WASH complex subunit strumpellin knock‐in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue
Published in Neuropathology and applied neurobiology (01-02-2022)“…Aims We investigated N471D WASH complex subunit strumpellin (Washc5) knock‐in and Washc5 knock‐out mice as models for hereditary spastic paraplegia type 8…”
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The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Published in Biochemical and biophysical research communications (18-09-2018)“…Heterozygous missense mutations in the human VCP gene cause inclusion body myopathy associated with Paget disease of bone and fronto-temporal dementia (IBMPFD)…”
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CRN2 binds to TIMP4 and MMP14 and promotes perivascular invasion of glioblastoma cells
Published in European journal of cell biology (01-12-2019)“…•CRN2 knock-out mice display neurological and behavioural alterations.•glioblastoma cells overexpressing CRN2 more effectively encase capillaries.•CRN2…”
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Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients
Published in Neurobiology of aging (01-08-2017)“…Abstract Mutations of the human valosin-containing protein, p97 (VCP) and Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex genes cause motor…”
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