Results 51 to 60 of about 4,130 (205)
Cytoskeleton, EarlyView.ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith +9 more
wiley +1 more source
Generation of a Hutchinson–Gilford progeria syndrome monkey model by base editing
Protein & Cell, 2020 Many human genetic diseases, including Hutchinson-Gilford progeria syndrome (HGPS), are caused by single point mutations. HGPS is a rare disorder that causes premature aging and is usually caused by a de novo point mutation in the LMNA gene. Base editors
Fang Wang +17 more
doaj +1 more source
eLife, 2020 Vascular dysfunctions are a common feature of multiple age-related diseases. However, modeling healthy and pathological aging of the human vasculature represents an unresolved experimental challenge. Here, we generated induced vascular endothelial cells (
Simone Bersini +4 more
doaj +1 more source
PDE4D and PDE3B orchestrate distinct cAMP microdomains in 3T3‐L1 adipocytes
British Journal of Pharmacology, EarlyView.Basal conditions: •Ins/PDE3B lowers cytoplasmic cAMP (cyt‐cAMP) without affecting plasma membrane cAMP (pm‐cAMP). •Insulin decreases lipid droplet cAMP (LD‐cAMP) independent of PDE3B. •FGF1/PDE4D modestly reduces both cyt‐ and pm‐cAMP, while PDE4D alone can modulate LD‐cAMP. ISO stimulation: •Ins/PDE3B has minimal impact on cyt‐cAMP.
Johannes Krier +9 more
wiley +1 more source
Wiederherstellen der Proteinabbauwege im Hutchinson-Gilford Progerie Syndrom (HGPS) [PDF]
, 2019 The Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that leads to death at an average age of 14.7 years. A point mutation within the lamin A gene results in the accumulation of a mutant protein called progerin.
Gabriel, Diana
core
HGPS fibroblasts show reduced gammaH2AX response upon Dox treatment.
, 2016 (A) Representative fluorescence images of gammaH2AX foci in middle passage normal and HGPS fibroblasts after Dox treatment. Scale Bar: 5um. (B).
Celeste Witting (3372776) +6 more
core +1 more source
The FEBS Journal, EarlyView.Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi +12 more
wiley +1 more source
Methylene blue restores H3K9me3 and rescues DDR defects in HGPS.
, 2016 (A). Western blotting analysis with anti-pATM(S1981), anti-ATM, anti- gammaH2AX, anti-HP1alpha, anti-H3K9me3 and anti-GAPDH antibodies on late passage normal and HGPS fibroblasts treated with or without MB after 30 days.
Celeste Witting (3372776) +6 more
core +1 more source
Hutchinson-Gilford Progeria Syndrome (HGPS)
Journal of Oral Diagnosis, 2016 Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic condition characterized by premature aging and it’s about one case for every four to eight million people. Children affected usually have premature death due to cardiovascular problems.
Alexandre Simoes Nogueira +6 more
openaire +1 more source
Journal of Diabetes Investigation, EarlyView.Circulating Annexin A2 is positively associated with peripheral insulin sensitivity. ABSTRACT Background and Aim Subcellular annexin A2 (ANXA2) is known to regulate membrane dynamics and GLUT4 trafficking in adipocytes; however, the role of serum ANXA2 in glucose metabolism remains unclear.
Yuichi Ito +12 more
wiley +1 more source