Search Results - "Bassi, M.T."

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family by Monti, E, Bassi, M.T, Bresciani, R, Civini, S, Croci, G.L, Papini, N, Riboni, M, Zanchetti, G, Ballabio, A, Preti, A, Tettamanti, G, Venerando, B, Borsani, G

“…Several mammalian sialidases have been cloned so far and here we describe the identification and expression of a new member of the human sialidase gene family…”
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Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development by Kosaki, K., Kosaki, R., Bassi, M.T., Lewin, M., Belmont, J., Schauer, G., Casey, B.

“…Members of the transforming growth factor (TGF)–β family of cell-signaling molecules have been implicated recently in mammalian left-right (LR) axis…”
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G.P.7.01 Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients by Trimarco, A, Torella, A, Cuomo, A, Bassi, M.T, Fanin, M, Galluzzi, G, Minetti, C, Politano, L, Nigro, V

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P.440 Metabolic disorders induced by antipsychotic drugs: in vitro study of the mechanisms of action by Vantaggiato, C., Panzeri, E., Citterio, A., Bassi, M.T., Pozzi, M.

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NMP03 A novel SETX missense mutation and a BSCL2 variant in a family with distal motor neuronopathy, spasticity, and distal amyotrophy of the lower limbs by D'Angelo, M.G, Airoldi, G, Crippa, F, Scaioli, V, Piccinini, L, Vantaggiato, C, Tonelli, A, Turconi, A.C, Bresolin, N, Bassi, M.T

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"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia by Pascual, B, de Bot, S T, Daniels, M R, França, Jr, M C, Toro, C, Riverol, M, Hedera, P, Bassi, M T, Bresolin, N, van de Warrenburg, B P, Kremer, B, Nicolai, J, Charles, P, Xu, J, Singh, S, Patronas, N J, Fung, S H, Gregory, M D, Masdeu, J C

“…The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with…”
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Alternative splicing in the human gene for the core protein A1 generates another hnRNP protein by Buvoli, M., Cobianchi, F., Bestagno, M.G., Mangiarotti, A., Bassi, M.T., Biamonti, G., Riva, S.

“…The human hnRNP core protein A1 (34 kd) is encoded by a 4.6 kb gene split into 10 exons. Here we show that the A1 gene can be differentially spliced by the…”
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Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization by Manzoni, M., Monti, E., Bresciani, R., Bozzato, A., Barlati, S., Bassi, M.T., Borsani, G.

“…Mucolipin-1 is a 65-kDa membrane protein encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), a rare neurodegenerative…”
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Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation by Dalpozzo, F, Rossetto, M G, Boaretto, F, Sartori, E, Mostacciuolo, M L, Daga, A, Bassi, M T, Martinuzzi, A

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cDNA cloning of human hnRNP protein Al reveals the existence of multiple mRNA isoforms by Buvoli, M., Biamonti, G., Tsoulfas, P., Bassi, M.T., Ghetti, A., Riva, S., Morandi, C.

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Isolation of an active gene encoding human hnRNP protein A1. Evidence for alternative splicing by Biamonti, G, Buvoli, M, Bassi, M T, Morandi, C, Cobianchi, F, Riva, S

“…Heterogeneous nuclear ribonucleoprotein (hnRNP) core protein A1 is a major component of mammalian hnRNP 40 S particles. We describe the structure of an active…”
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A New Region of Conservation Is Defined between Human and Mouse X Chromosomes by Dinulos, Mary Beth, Bassi, Maria T., Rugarli, Elena I., Chapman, Verne, Ballabio, Andrea, Disteche, Christine M.

“…Comparative mapping of the X chromosome in eutherian mammals has revealed distinct regions of conservation as well as evolutionary rearrangements between human…”
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