Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Sara Bondioni"'
Autor:
Emilio Clementi, Nereo Bresolin, Sara Bondioni, Elena I. Rugarli, Andrea Bozzato, Maria Teresa Bassi, Giovanni Airoldi, Giuseppe Borsani, Chiara Vantaggiato
Publikováno v:
Brain. 134:1808-1828
Senataxin is encoded by the SETX gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2. Based on prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6549e5343b735e2ad9a9718ae8c0b2
https://doi.org/10.1093/brain/awr084
https://doi.org/10.1093/brain/awr084
Autor:
Michela Morbin, Nereo Bresolin, Sara Bondioni, Francesca Redaelli, Roberto Giorda, Chiara Vantaggiato, Cristiana Perrotta, Maria Teresa Bassi, Veronica Saletti, Maria Clara Bonaglia, Daria Riva, Emilio Clementi, Alessandra Tonelli, Sestina Falcone
Publikováno v:
Human Mutation. 30:1104-1116
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7a04ec2aaec949a126e81a45bfa32a
https://doi.org/10.1002/humu.21012
https://doi.org/10.1002/humu.21012
Autor:
Luisella Alberti, Andrea Lania, Stefano Ferrero, Anna Spada, Marco Zappa, Paolo Beck-Peccoz, Sabrina Corbetta, Cecilia Invitti, Giovanna Mantovani, Luisa Gilardini, Sara Bondioni, Silvano Bosari
Publikováno v:
Diabetes. 58:620-626
OBJECTIVE—In human adipocytes, the cAMP-dependent pathway mediates signals originating from β-adrenergic activation, thus playing a key role in the regulation of important metabolic processes, i.e., lipolysis and thermogenesis. Cyclic AMP effects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2b5c4b5ffd78875791fe1ba521a99b4
https://doi.org/10.2337/db08-0585
https://doi.org/10.2337/db08-0585
Autor:
Erika Peverelli, Davide Calebiro, Giovanna Mantovani, Paolo Beck-Peccoz, Andrea Doni, Sara Bondioni, Andrea Lania, Anna Spada
Publikováno v:
Molecular Endocrinology. 22:676-688
Somatostatin (SS) is a widely distributed polypeptide that exerts inhibitory effects on hormone secretion and cell proliferation by interacting with five different receptors (SST1-SST5). β-Arrestins have been implicated in regulating SST internaliza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f6503d8cb793cf521222624609b469e
https://doi.org/10.1210/me.2007-0068
https://doi.org/10.1210/me.2007-0068
Autor:
Silvano Bosari, Monica Rodolfo, Nadia Polentarutti, Giovanna Mantovani, Erika Peverelli, Paolo Beck-Peccoz, Stefano Ferrero, Andrea Lania, Anna Spada, Sara Bondioni, T Veliz Rodriguez
Publikováno v:
Oncogene. 27:1834-1843
The cAMP-protein kinase A (PKA) pathway is the major signal transduction pathway involved in melanocyte-stimulating hormone receptor-mediated signaling and melanin production, whereas its role in the control of melanocyte proliferation is still contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9de6d835a33f78cb62ea10dce9a1068
https://doi.org/10.1038/sj.onc.1210831
https://doi.org/10.1038/sj.onc.1210831
Autor:
Erika Peverelli, Luisella Alberti, Silvano Bosari, Paolo Beck-Peccoz, Giovanna Mantovani, C. Asteria, Sara Bondioni, Caterina Pellegrini, Anna Spada
Publikováno v:
Molecular and Cellular Endocrinology. 247:135-139
Hesx1 is a paired-like homeobox gene first expressed during mouse embryogenesis in the anterior midline visceral endoderm. As gastrulation proceeds, Hesx1 is expressed in the ventral prosencephalon and, subsequently, at E9.0 appears in the ventral di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8393e1ffc0b0f703756245e623e3c5a4
https://doi.org/10.1016/j.mce.2005.12.036
https://doi.org/10.1016/j.mce.2005.12.036
Autor:
Andrea Lania, Giovanna Mantovani, Anna Spada, Sara Bondioni, Rossella Libé, C. Pedroni, Paolo Beck-Peccoz
Publikováno v:
Experimental and Clinical Endocrinology & Diabetes. 113:248-251
Little is known about the pathogenesis of adrenocortical tumors. The cAMP-dependent pathway is physiologically activated by ACTH in adrenocortical cells and different components of this cascade may be altered in some functioning adrenocortical tumors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b5198939b3beb300f6b010fa2bcc9fe
https://doi.org/10.1055/s-2005-837651
https://doi.org/10.1055/s-2005-837651
Autor:
Valentina Bollati, Sara Bondioni, Luisa de Sanctis, Francesca Elli, Giovanna Mantovani, Andrea Lania, Erika Peverelli, Anna Maria Barbieri, Valentina Vaira, Pamela Labarile, Paolo Beck-Peccoz, Anna Spada
Publikováno v:
The Journal of clinical endocrinology and metabolism. 95(2)
The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95496d8749f530453e1a853bd0a4f167
https://pubmed.ncbi.nlm.nih.gov/20061437
https://pubmed.ncbi.nlm.nih.gov/20061437
Autor:
Giovanna Mantovani, Pamela Labarile, Bruno Ambrosi, Andrea Lania, Chiara Dall'Asta, Barbara Rubino, Paolo Beck-Peccoz, Lorenzo Menicanti, Sabrina Corbetta, Anna Spada, Sara Bondioni, Erika Peverelli
Publikováno v:
Scopus-Elsevier
Cardiac myxomas are rare tumors that usually occur as sporadic lesions or, more rarely, in the familial form, mostly in the context of Carney complex (CNC). The molecular basis for the development of cardiac myxomas is unclear. However, somatic activ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5266b23698b4527afc2257a4741c86
https://pubmed.ncbi.nlm.nih.gov/19494712
https://pubmed.ncbi.nlm.nih.gov/19494712
Autor:
Clara De Palma, Chiara Vantaggiato, Maria Teresa Bassi, Orazio Cantoni, Andrea Guidarelli, Giovanni Airoldi, Alessandra Tonelli, Nereo Bresolin, Chris Panzeri, Maria Grazia D'Angelo, Sara Bonato, Sara Bondioni, Claudia Crimella, Emilio Clementi, Sestina Falcone
Publikováno v:
Neurogenetics. 11(1)
Ataxia with oculomotor apraxia (AOA) type 2 (AOA2 MIM 606002) is a recessive subtype of AOA characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. Various mutations either in homozygous or compound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e69763e4cbf3ee7613e10ebe61a1a2d
https://pubmed.ncbi.nlm.nih.gov/19593598
https://pubmed.ncbi.nlm.nih.gov/19593598