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Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis.

• Sofia Stinchi, Renate Lüllmann-Rauch, +5 authors Paul Saftig
• Human molecular genetics
• 1999

Alpha-mannosidosis is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the lysosomal alpha-mannosidase, which is involved in the degradation of… (More)

Lysosomal alpha-mannosidases of mouse tissues: characteristics of the isoenzymes, and cloning and expression of a full-length cDNA.

• Tommaso Beccari, Massimo Appolloni, +6 authors Antonio Orlacchio
• The Biochemical journal
• 1997

Lysosomal alpha-d-mannosidase from mouse tissues was separated into its constituent isoenzymes by DEAE-cellulose chromatography. Forms corresponding to the human isoenzymes B and A were present in… (More)

Lysosomal alpha-D-mannosidase.

• Tommaso Beccari, Sofia Stinchi, Antonio Orlacchio
• Bioscience reports
• 1999

Alpha-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal alpha-D-mannosidasea activity. Lysosomal alpha-D-mannosidase is involved in the… (More)

Promoter characterization and structure of the gene encoding mouse lysosomal α-d-mannosidase

• Sofia Stinchi, An. Orlacchio, Egidia Costanzi, John L Stirling, Anna Rita Menghini, Tommaso Beccari
• Mammalian Genome
• 1998

Mouse lysosomal α-d-mannosidase (EC 3.2.1.24) is an enzyme involved in the catabolism of N-linked glycoproteins. The gene is differentially expressed in mouse tissues, and the highest level of mRNA… (More)

Lysosomal a-D-mannosidase

• Tommaso Beccari, Sofia Stinchi, Antonio Orlacchio
• 2002

a-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal a-D-mannosidasea actvity. Lysosomal a-D-mannosidase is involved in the catabolism… (More)

Promoter characterization and structure of the gene encoding mouse lysosomal alpha-d-mannosidase.

• Sofia Stinchi, Egidia Costanzi, John L Stirling, Anna Rita Menghini, Antonio Orlacchio, Tommaso Beccari
• Mammalian genome : official journal of the…
• 1998

Mouse lysosomal alpha-d-mannosidase (EC 3.2.1.24) is an enzyme involved in the catabolism of N-linked glycoproteins. The gene is differentially expressed in mouse tissues, and the highest level of… (More)

Targeted disruption of the lysosomal α-mannosidase gene results in mice resembling a mild form of human α-mannosidosis

• Sofia Stinchi, Dieter Hartmann, Ruth Coenen, Aldo Orlacchio, Paul Saftig
• 1999

1Dipartimento di Biologia Cellulare e Molecolare, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, Via del Giochetto, 06126 Perugia, Italy, 2Anatomisches Institut der… (More)

Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping

• Egidia Costanzi, Tommaso Beccari, Sofia Stinchi, Lucia Bibi, John J. Hopwood, Antonio Orlacchio
• Mammalian Genome
• 2000

Sulphamidase is an exoglycosidase involved in the degradation of heparan sulfate. Lack of sulphamidase activity leads to the lysosomal storage disorder Mucopolysaccharidosis type IIIA (Sanfilippo… (More)

Mouse beta-mannosidase: cDNA cloning, expression, and chromosomal localization.

• Tommaso Beccari, Lucia Bibi, Sofia Stinchi, John L Stirling, Antonio Orlacchio
• Bioscience reports
• 2001

Beta-mannosidase is an exoglycosidase involved in the degradation of N-linked oligosaccharides moieties of glycoproteins. Lack of beta-mannosidase activity leads to the lysosomal disorder… (More)

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