Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Elvira Costantino-Ceccarini"'
Autor:
Massimo Riccio, Spartaco Santi, Maja Dembic, Rossella Di Giaimo, Elena Cipollini, Elvira Costantino-Ceccarini, Davide Ambrosetti, Nadir M. Maraldi, Marialuisa Melli
Publikováno v:
Neurobiology of Disease, Vol 20, Iss 1, Pp 104-114 (2005)
Cystatin B (cystB) is an anti-protease implicated in EPM1, a degenerative disease of the central nervous system. This work analyzes the pattern of expression of cystB in developing and adult cerebellum, identifying the cystB positive cells by double
Externí odkaz:
https://doaj.org/article/49bd417411ff44d1b686ceff43e4e7d6
Autor:
Laura Crifasi, Alice Luddi, Giuseppe Belmonte, Elvira Costantino-Ceccarini, Martina Gori, Camilla Marrocco, Paola Piomboni
Publikováno v:
Systems Biology in Reproductive Medicine. 63:77-85
Spermatogenesis is a complex process of proliferation and differentiation during male germ cell development whereby undifferentiated spermatogonial germ cells evolve into maturing spermatozoa. In this developmental process the interactions between di
Publikováno v:
Journal of Neuroscience Research. 94:1273-1283
Krabbe's disease (KD) is a degenerative lysosomal storage disease resulting from deficiency of β-galactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns. In affected
Autor:
Assunta Zanfini, Laura Governini, Alice Luddi, Gianfranco Corbini, Elena Dreassi, Anna Berardi, Paolo Balestri, Elvira Costantino-Ceccarini
Publikováno v:
Journal of Pharmaceutical and Biomedical Analysis. 80:44-49
Globoid cell leukodystrophy or Krabbe disease is an inherited autosomal recessive disorder caused by mutations in the galactosylceramidase (GALC) gene. Deficiency of GALC results in the accumulation of a highly cytotoxic metabolite galactosylsphingos
Autor:
Vincenzo Perciavalle, Domenico Mazzone, Elvira Costantino-Ceccarini, Venera Cardile, Elisa Alvares, Giovanna Pannuzzo
Publikováno v:
Molecular Genetics and Metabolism. 100:234-240
Krabbe disease or globoid cell leukodystrophy is an autosomal recessively inherited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme that catalyzes the hydrolysis of galactose from galactosylceramide and galactosylsphin
Autor:
Paola Piomboni, Elvira Costantino-Ceccarini, Alice Luddi, Elena Dreassi, Assunta Zanfini, Anna Berardi
Publikováno v:
Lipids. 49(11)
Globoid cell leukodystrophy or Krabbe disease is an inherited autosomal recessive disorder caused by mutations in the galactosylceramidase gene. The objective of the study was to present information about the fatty acid (FA) composition of the brain
Autor:
Erica Puggioni, Laura Governini, Martina Gori, Alice Luddi, Elvira Costantino-Ceccarini, Paola Piomboni
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 4 (2014)
Frontiers in Endocrinology, Vol 4 (2014)
Mammalian spermatogenesis is a complex hormone-dependent developmental program where interactions between different cell types are finely regulated. Mouse models in which any of the sperm maturation steps are perturbed provide major insights into the
Autor:
Adriana Carol Eleonora Graziano, Anna Berardi, Giovanna Pannuzzo, Paola Piomboni, Elvira Costantino-Ceccarini, Alice Luddi
Krabbe disease or globoid cell leukodystrophy is a degenerative, lysosomal storage disease resulting from the deficiency of β-galactocerebrosidase activity. This enzyme catalyzes the lysosomal hydrolysis of galactocerebroside and psychosine. Krabbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9ff46166be44c2e27e61996f52fc28
http://hdl.handle.net/11365/49792
http://hdl.handle.net/11365/49792
Autor:
A. Smorlesi, M. Volterrani, David A. Wenger, Elvira Costantino-Ceccarini, Alice Luddi, Mohammad A. Rafi, J. Datto, Michelina Strazza
Publikováno v:
Neurobiology of Disease, Vol 8, Iss 4, Pp 600-610 (2001)
Galactocerebrosidase (GALC) is deficient in all tissues from human patients and animal models with globoid cell leukodystrophy (GLD) or Krabbe disease. The deficiency results in decreased lysosomal catabolism of certain galactolipids including galact
Autor:
David A. Wenger, Margherita Volterrani, Elvira Costantino-Ceccarini, Alice Luddi, Mohammad A. Rafi, Michelina Strazza
Publikováno v:
Neurochemical Research. 24:287-293
Krabbe disease or globoid cell leukodystropy is a lysosomal disorder caused by a deficiency of galactocerebrosidase (GALC) activity. This results in defects in myelin that lead to severe symptoms and early death in most human patients and animals wit