A5041979313- Mitochondrial Function and Pathology
- Alzheimer's disease research and treatments
- Parkinson's Disease Mechanisms and Treatments
- Neuroscience and Neuropharmacology Research
- Lipid Membrane Structure and Behavior
- Cellular transport and secretion
- Genetic Neurodegenerative Diseases
- Autophagy in Disease and Therapy
- ATP Synthase and ATPases Research
- Genetics and Neurodevelopmental Disorders
- Endoplasmic Reticulum Stress and Disease
- Trace Elements in Health
- Neurological diseases and metabolism
- Glycosylation and Glycoproteins Research
- Hedgehog Signaling Pathway Studies
- Retinal Development and Disorders
- Congenital heart defects research
- Developmental Biology and Gene Regulation
- Analytical Chemistry and Sensors
- Advanced Fluorescence Microscopy Techniques
- Ion channel regulation and function
- Photoreceptor and optogenetics research
University of Padua
2016-2023
Contact sites are discrete areas of organelle proximity that coordinate essential physiological processes across membranes, including Ca2+ signaling, lipid biosynthesis, apoptosis, and autophagy. However, tools to easily image inter-organelle over a range distances in living cells vivo lacking. Here we report split-GFP-based contact site sensor (SPLICS) engineered fluoresce when organelles proximity. Two SPLICS versions efficiently measured narrow (8-10 nm) wide (40-50 juxtapositions between...
Abstract Membrane contact sites between virtually any known organelle have been documented and, in the last decades, their study received momentum due to importance for fundamental activities of cell and subtle comprehension many human diseases. The lack tools finely image inter-organelle proximity hindered our understanding on how these subcellular communication hubs mediate regulate homeostasis. We develop an improved expanded palette split-GFP-based site sensors (SPLICS) detection single...
Morphogens release and activity can be negatively affected by an impaired glycosaminoglycans (GAGs) turnover proteoglycans assembly in the extracellular matrix, leading to altered tissue morphogenesis. In this work, we show that loss of Iduronate-2-sulfatase (IDS) activity, affecting GAGs catabolism responsible for a life-threatening valvulopathy mucopolysaccharidosis type II (MPSII), triggers early Sonic Hedgehog (Shh) Wnt/β-catenin signaling defects, aberrant heart development...
Familial Parkinson's disease (PD) is associated with duplication or mutations of α-synuclein gene, whose product a presynaptic cytosolic protein also found in mitochondria and mitochondrial-associated ER membranes. We have originally shown the role α-syn as modulator ER-mitochondria interface mitochondrial Ca2+ transients, suggesting that, at mild levels expression, sustains cell metabolism. Here, we investigated possibility that action on tethering could be compromised by presence...
Abstract Parkinson’s disease (PD), the second most common neurodegenerative disorder, is characterized by dopaminergic neuronal loss that initiates in substantia nigra pars compacta and formation of intracellular inclusions mainly constituted aberrant α-synuclein (α-syn) deposits known as Lewy bodies. Most cases PD are sporadic, but about 10% familial, among them those caused mutations SNCA gene have an autosomal dominant transmission. encodes α-syn, a small 140-amino acids protein that,...
Mutations in presenilin 2 (PS2) have been causally linked to the development of inherited Alzheimer’s disease (AD). Besides its role as part γ-secretase complex, mammalian PS2 is also involved, an individual protein, a growing number cell processes, which result altered AD. To gain more insight into (dys)functions, we generated presenilin2 (psen2) knockout zebrafish line. We found that absence protein does not markedly influence Notch signaling at early developmental stages, suggesting Psen2...
The privileged physical connection between ER and mitochondria plays an important role in fundamental cellular processes, such as maintenance of Ca2+ lipid homeostasis, regulation autophagy life-or-death decisions. We previously demonstrated that Presenilin-2 (PS2) Familial Alzheimer's disease (FAD)-linked mutants dampen [Ca2+] favor ER-mitochondria physical/functional juxtaposition (Brunello et al. 2009; Zampese 2011). latter effect is due to the PS2 capacity bind inhibit Mitofusin-2, a...