Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Bruno, Bembi"'
Autor:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27
Autor:
Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the
Externí odkaz:
https://doaj.org/article/ab17b1837b304f17a1e4a5db3c2fb62f
Autor:
Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characteri
Externí odkaz:
https://doaj.org/article/1030be956c3b4ceaaaacd1eedd1f9036
Autor:
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/3525e157591141978b324498de1df8af
Autor:
Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-15 (2020)
Abstract Background For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outs
Externí odkaz:
https://doaj.org/article/59147f98fbb844a99a8ff42581d76f3a
Autor:
Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, Mauro Marzorati, Simone Porcelli, Annarita Tullio, Anna Bacco, Simona Bertoli, Andrea Dardis, Lea Biasutti, Maria Barbara Pasanisi, Grazia Devigili, Bruno Bembi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Late onset Pompe disease (LOPD) is a lysosomal neuromuscular disorder which can progressively impair the patients’ exercise tolerance, motor and respiratory functions, and quality of life. The available enzyme replacement therap
Externí odkaz:
https://doaj.org/article/ee6bce0c704144d6b69bc06dbc26f16c
Autor:
Annalisa Sechi, Alessandro Vit, Claudio Avellini, Andrea Dardis, Andrea Pellegrin, Maurizio Scarpa, Bruno Bembi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100808- (2021)
Acid sphingomyelinase deficiency (ASMD) is a rare metabolic disorder due to biallelic mutation in the SMPD1 gene. The defect leads to the accumulation of sphingomyelin within the cells of the reticulo-endothelial system, particularly in the spleen, l
Externí odkaz:
https://doaj.org/article/8f6fd1550a1049d88aba4637f2f3f973
Autor:
Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
EBioMedicine, Vol 43, Iss , Pp 553-561 (2019)
Background: Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant
Externí odkaz:
https://doaj.org/article/c609b87ce42d44c0bebf44fcafbb18b0
Autor:
Cathrine K. Fog, Paola Zago, Erika Malini, Lukasz M. Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj H.T. Petersen, Bruno Bembi, Johannes F.M.G. Aerts, Andrea Dardis, Thomas Kirkegaard
Publikováno v:
EBioMedicine, Vol 38, Iss , Pp 142-153 (2018)
Background: Gaucher Disease is caused by mutations of the GBA gene which encodes the lysosomal enzyme acid beta-glucosidase (GCase). GBA mutations commonly affect GCase function by perturbing its protein homeostasis rather than its catalytic activity
Externí odkaz:
https://doaj.org/article/73a0c1f67b9c4c39af175f9198dbb0e8
Autor:
Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100678- (2020)
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase encoding gene (GBA1), resulting in the deficient activity of acid β-glucosidase (GCase). To date, there is no approved treatment
Externí odkaz:
https://doaj.org/article/c76429547ea544bda01a8f9b7b7c690e