A5057646088- RNA regulation and disease
- Autophagy in Disease and Therapy
- Ubiquitin and proteasome pathways
- Calpain Protease Function and Regulation
- Neurological diseases and metabolism
- Toxoplasma gondii Research Studies
- Porphyrin Metabolism and Disorders
- Cancer-related gene regulation
- Hereditary Neurological Disorders
- Hippo pathway signaling and YAP/TAZ
- Peptidase Inhibition and Analysis
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2022
Vita-Salute San Raffaele University
2020-2022
Istituti di Ricovero e Cura a Carattere Scientifico
2022
Consorzio Interuniversitario per le Biotecnologie
2016-2018
AREA Science Park
2017
Abstract Neurodegeneration associated with defective pantothenate kinase-2 (PKAN) is an early-onset monogenic autosomal-recessive disorder. The hallmark of the disease massive accumulation iron in globus pallidus brain region patients. PKAN caused by mutations PANK2 gene encoding mitochondrial enzyme kinase-2, whose function to catalyze first reaction CoA biosynthetic pathway. To date, way which this alteration leads has not been elucidated. Starting from previously obtained hiPS clones, we...
ULK1 (unc-51 like autophagy activating kinase 1) is a core component at multiple steps of canonical macroautophagy/autophagy. The activity tightly regulated by several post-translational modifications, including ubiquitination, yet the deubiquitinase (DUB) responsible for its reversible deubiquitination has not been described. Here, we identified USP1 (ubiquitin specific peptidase as key player in modulation K63-linked deubiquitination. Moreover, both depletion and chemical inhibition...
Pantothenate Kinase-associated Neurodegeneration (PKAN) belongs to a wide spectrum of diseases characterized by brain iron accumulation and extrapyramidal motor signs. PKAN is caused mutations in PANK2, encoding the mitochondrial pantothenate kinase 2, which first enzyme biosynthesis Coenzyme A. We established glutamatergic neurons starting from previously developed Induced Pluripotent Stem Cells (iPSCs). Results obtained inductively coupled plasma mass spectrometry indicated higher amount...
CAPNS1 is essential for stability and function of the ubiquitous calcium dependent proteases micro- milli-calpain. Upon inhibition endoplasmic reticulum Ca2+ ATPase by 100nM thapsigargin, both micro-calpain autophagy are activated in human U2OS osteosarcoma cells a manner. As reported other triggers, thapsigargin treatment induces Golgi fragmentation fusion Atg9/Bif-1 containing vesicles with LC3 bodies control cells. On opposite, depletion coupled to an accumulation Rab5 early endosomes....
CAPNS1 is essential for the stability and function of ubiquitous CAPN1 CAPN2. Calpain modulates by proteolytic cleavage many cellular substrates its activity often deregulated in cancer cells, therefore calpain inhibition has been proposed as a therapeutical strategy number malignancies. Here we show that depletion coupled to impairment MCF7 MCF10AT cell lines growth on plate defective architecture mammary acini derived from MCF10A cells. In soft agar leads increase MCF7, decrease both...