Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Maria Antonietta De Matteis"'
Autor:
Alessia Calcagni’, Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J. Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J. Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular trafficking hub connecting the Golgi and lysosome compartments. Proteo
Externí odkaz:
https://doaj.org/article/6b4c5ef6c8024f6aa64e8fc752ca2920
Autor:
Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)
Abstract Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiol
Externí odkaz:
https://doaj.org/article/c9d76b1dfda5478da27f60239b67fa37
Autor:
Luca Scorrano, Maria Antonietta De Matteis, Scott Emr, Francesca Giordano, György Hajnóczky, Benoît Kornmann, Laura L. Lackner, Tim P. Levine, Luca Pellegrini, Karin Reinisch, Rosario Rizzuto, Thomas Simmen, Harald Stenmark, Christian Ungermann, Maya Schuldiner
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Given the recent growing interest in interorganelle membrane contact sites, the field will benefit from clear rules to define and study them. In this Perspective, a panel of experts aims to provide this growing field with guidelines for experimental
Externí odkaz:
https://doaj.org/article/5394a31700dd4930b680e3b555969840
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 2, Pp 287-298 (2019)
Phosphoinositides (PIs) play pivotal roles in the regulation of many biological processes. The quality and quantity of PIs is regulated in time and space by the activity of PI kinases and PI phosphatases. The number of PI-metabolizing enzymes exceeds
Externí odkaz:
https://doaj.org/article/8f2fbe71fc0a4a258297b3863d0cda10
Autor:
Francesco Bellomo, Ester De Leo, Anna Taranta, Laura Giaquinto, Gianna Di Giovamberardino, Sandro Montefusco, Laura Rita Rega, Anna Pastore, Diego Luis Medina, Diego Di Bernardo, Maria Antonietta De Matteis, Francesco Emma
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12829 (2021)
Diagnosis and cure for rare diseases represent a great challenge for the scientific community who often comes up against the complexity and heterogeneity of clinical picture associated to a high cost and time-consuming drug development processes. Her
Externí odkaz:
https://doaj.org/article/98bad27755484d9aa5347e34f31a47fd
Autor:
Francesco Bellomo, Anna Taranta, Stefania Petrini, Rossella Venditti, Maria Teresa Rocchetti, Laura Rita Rega, Serena Corallini, Loreto Gesualdo, Maria Antonietta De Matteis, Francesco Emma
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0154805 (2016)
Cystinosin mediates an ATP-dependent cystine efflux from lysosomes and causes, if mutated, nephropathic cystinosis, a rare inherited lysosomal storage disease. Alternative splicing of the last exon of the cystinosin sequence produces the cystinosin-L
Externí odkaz:
https://doaj.org/article/d21a0f0a932c4a42823bd864fd9789cc
Autor:
Ekaterina A Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N Levtchenko
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0120998 (2015)
Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidney
Externí odkaz:
https://doaj.org/article/41aff619860a4bceae348e474907f8be
Autor:
Hichem Mahfouz, Antonella Ragnini-Wilson, Rossella Venditti, Maria Antonietta De Matteis, Cathal Wilson
Publikováno v:
PLoS ONE, Vol 8, Iss 5 (2013)
Externí odkaz:
https://doaj.org/article/023d3b730f164d54910295ea9b90c730
Autor:
Hichem Mahfouz, Antonella Ragnini-Wilson, Rossella Venditti, Maria Antonietta De Matteis, Cathal Wilson
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e41408 (2012)
Trs20p is a subunit of the evolutionarily conserved TRAPP (TRAnsport Protein Particle) complex that mediates various aspects of membrane trafficking. Three TRAPP complexes have been identified in yeast with roles in ER-to-Golgi trafficking, post-Golg
Externí odkaz:
https://doaj.org/article/1517182a56a04cb4a405dbd8768b57a3
Publikováno v:
The EMBO Journal. 41
Cells are able to adapt their growth to external mechanical strain. A recent study by Phuyal et al (2022) has shown that these responses depend on the heterodimerization of two small GTPases.