about
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1Steroid receptor RNA activator protein binds to and counteracts SRA RNA-mediated activation of MyoD and muscle differentiationTherapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic DystrophyNew function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeatsAbnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle.RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoformsHigh-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.Impairment of synaptic transmission by transient hypoxia in hippocampal slices: improved recovery in glutathione peroxidase transgenic mice.Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophyNesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.Precise small-molecule recognition of a toxic CUG RNA repeat expansion.Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide MetforminDystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle.Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteinsLarge CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cellsTriplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.Gain of RNA function in pathological cases: Focus on myotonic dystrophy.Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscleViral vector producing antisense RNA restores myotonic dystrophy myoblast functions.Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.Immunocytochemical localization of seleno-glutathione peroxidase in the adult mouse brain.Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.Effect of constitutive inactivation of the myostatin gene on the gain in muscle strength during postnatal growth in two murine models.Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1.Endogenous TWIST expression and differentiation are opposite during human muscle development.Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts.Replicative aging down-regulates the myogenic regulatory factors in human myoblasts.Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.Cells of Matter-In Vitro Models for Myotonic Dystrophy.In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Denis Furling
@ast
Denis Furling
@en
Denis Furling
@es
Denis Furling
@nl
Denis Furling
@sl
type
label
Denis Furling
@ast
Denis Furling
@en
Denis Furling
@es
Denis Furling
@nl
Denis Furling
@sl
prefLabel
Denis Furling
@ast
Denis Furling
@en
Denis Furling
@es
Denis Furling
@nl
Denis Furling
@sl
P1053
M-2346-2017
P106
P31
P3829
P496
0000-0001-7912-4409