Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Maurizio De Fusco"'
Autor:
Céline Schaeffer, Maurizio De Fusco, Elena Pasqualetto, Caterina Scolari, Claudia Izzi, Francesco Scolari, Luca Rampoldi
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/7112b99ee4dc4962a0df5cf6a79baa58
Autor:
Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Maurizio Gallieni, Chiara Lanzani, Sandro Feriozzi, Luca Rampoldi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100926- (2022)
Anderson-Fabry Disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA, the gene encoding the lysosomal hydrolase α-galactosidase A (α-Gal A), leading to accumulation of glycosphingolipids in the lysosomes. FD is a multisystemic d
Externí odkaz:
https://doaj.org/article/9aaea011d5e846f6b1bd99cfbbe96960
Autor:
Loredana Leo, Lisa Gherardini, Virginia Barone, Maurizio De Fusco, Daniela Pietrobon, Tommaso Pizzorusso, Giorgio Casari
Publikováno v:
PLoS Genetics, Vol 7, Iss 6, p e1002129 (2011)
Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant form of migraine with aura that is caused by mutations of the α2-subunit of the Na,K-ATPase, an isoform almost exclusively expressed in astrocytes in the adult brain. We generated t
Externí odkaz:
https://doaj.org/article/b4355d38ee0a4d7a82d6e398eefa9be8
Misrouting to mitochondria of renin carrying dominant mutations in the leader peptide or pro-segment
Autor:
Céline Schaeffer, Maurizio De Fusco, Elena Pasqualetto, Caterina Scolari, Claudia Izzi, Francesco Scolari, Luca Rampoldi
Publikováno v:
Disease Models & Mechanisms.
Autosomal Dominant Tubulointerstitial Kidney Disease, a rare genetic disorder characterised by progressive chronic kidney disease, is caused by mutations in different genes including REN, encoding renin. Renin is a secreted protease composed of 3 dom
Autor:
Baptiste Fischer, Inge A. Meijer, Renzo Guerrini, Naomi Lubarr, Paolo Aridon, Nils Schoovaerts, Maurizio De Fusco, Elena Parrini, Jef Swerts, Giorgio Casari, Patrik Verstreken, Katherine M. Mackenzie, Wim Versées, Wang-Tso Lee, Jone Paesmans, Davide Cittaro, Davide Mei, Kevin Lüthy
Publikováno v:
Brain
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/cat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::652286af42bf1dc5ebe84c1211b0f53f
Autor:
Federico Zara, Yunjia Chen, Carlo Di Bonaventura, Renzo Guerrini, Shmuel Muallem, Maurizio De Fusco, Min Seuk Kim, Giorgio Casari, Davide Mei, Riccardo Vago, Qin Wang, Pasquale Striano
Publikováno v:
Annals of Neurology. 75:77-87
Objective Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by distal, fairly rhythmic myoclonus and epilepsy with variable severity. We have previously mapped the disease locus on chromosome 2p11.1-q12.2 by genome-wide link
Autor:
Valentina Arnao, Juliane Winkelmann, Luigi Ferini-Strambi, Paolo Aridon, Giorgio Casari, Marco Zucconi, Maurizio De Fusco
INTRODUCTION: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. METHODS: We re-evaluated the previously described RLS2 family by exome sequencing. RESUL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277f133fdf6068373e9dc7280f6b5418
http://hdl.handle.net/10447/201205
http://hdl.handle.net/10447/201205
Autor:
Giorgio Casari, Renzo Guerrini, Filippo Martinelli Boneschi, Federico Zara, Paolo Aridon, Giancarlo Comi, Carla Marini, Maurizio De Fusco
Publikováno v:
Neuroscience Letters. 388:71-74
A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 i
Autor:
Giuseppe De Michele, Letterio Morgante, Katrin Plewnia, Maja Rossi, Sadia Carapelli, Giorgio Casari, Paolo Aridon, Maurizio De Fusco, Roberto Marconi, Rosa Musolino, Giuseppe Micieli, Andrea Ballabio, A. Epifanio
Publikováno v:
Annals of Neurology. 53:376-381
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutati
Autor:
Enzo Wanke, Marzia Lecchi, Alessia Cherubini, Olivia Crociani, Rita Restano-Cassulini, Annarosa Arcangeli, Giorgio Casari, Maurizio De Fusco, Alessio Masi, Andrea Becchetti
Publikováno v:
European Journal of Neuroscience. 16:415-428
The voltage-dependent K+ channels belonging to the ether-a-go-go family (eag, erg, elk) are widely expressed in the mammalian CNS. Their neuronal function, however, is poorly understood. Among the elk clones, elk2 is the most abundantly expressed in