A5036159174- Sirtuins and Resveratrol in Medicine
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- PARP inhibition in cancer therapy
- Histone Deacetylase Inhibitors Research
- Bipolar Disorder and Treatment
- RNA Interference and Gene Delivery
- Electroconvulsive Therapy Studies
- Heart Failure Treatment and Management
Josep Carreras Leukaemia Research Institute
2023
Institute for Research in Biomedicine
2021
The Sirtuin family of NAD+-dependent enzymes plays an important role in maintaining genome stability upon stress. Several mammalian Sirtuins have been linked directly or indirectly to the regulation DNA damage during replication through Homologous recombination (HR). one them, SIRT1, is intriguing as it seems a general regulatory response (DDR) that has not yet addressed. SIRT1-deficient cells show impaired DDR reflected decrease repair capacity, increased instability and decreased levels...
Reproductive aging is an increasing health concern affecting family planning and overall well-being. While extensively studied in females, the mechanisms driving male reproductive remain largely unexamined. Here we found that mammalian Sirtuin 7 (SIRT7) sustains spermatogenesis age-dependent manner through control of histone 3 lysine 36 acetylation (H3K36ac). SIRT7 deficiency mice resulted increased levels H3K36ac spermatogonia spermatocytes. In a germ cell line, disrupted nucleosome...
Pericentric heterochromatin (PCH) plays an essential role in the maintenance of genome integrity and alterations PCH have been linked to cancer aging. HP1 α, β, γ, are hallmarks constitutive that thought promote structure through binding heterochromatin-specific histone modifications interaction with a wide range factors. Among less understood components is H2A variant H2A.Z, whose organization poorly defined. Here we show there complex interplay between H2A.Z isoforms PCH. While loss HP1α...
Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates-the so-called Bodies (LBs)-in several organs. The LBs in brain underlies neurological phenotype disease. are composed abnormal and various associated proteins, including p62, an autophagy adaptor that participates aggregation clearance misfolded proteins. To study role p62 formation its participation pathology LD, we generated mouse model (malinKO) lacking p62. Deletion...
ABSTRACT Background Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates—the so-called Bodies (LBs)—in several organs. The LBs in brain underlies neurological phenotype disease. are composed abnormal and various associated proteins, including p62, an autophagy adaptor that participates aggregation clearance misfolded proteins. Methods To study role p62 formation its participation pathology LD, we generated mouse model...