Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Chiara Perusi"'
1
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease
Autor: Alessandro Salviati, Monica Mottes, Chiara Perusi, Rosanna Gatti, P.F. Pignatti, Nicolo' Rizzuto, Macarena Gomez-Lira
Publikováno v: Molecular and Cellular Probes. 15:75-79
We present the molecular genetic analysis of an infantile-onset Sandhoff disease patient. Genomic DNA amplification, heteroduplex analysis, cloning and sequencing revealed a 4-bp deletion in exon 4 (497 ΔAGTT). The result is a frameshift mutation th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea80de98d3f1b540aa9905ba54d2ae5
https://doi.org/10.1006/mcpr.2000.0342
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2
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation
Autor: Pier Franco Pignatti, Macarena Gomez-Lira, Chiara Perusi, Michela Manfredi, Nicolo' Rizzuto, Alessandro Salviati, Monica Mottes
Publikováno v: Human Genetics. 102:459-463
Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease caused by deficiency of the lysosomal enzyme, arylsulfatase A. Two common mutations causing MLD have been characterized and correlations between phenotype and genotype have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41711a394e9b94e0a476056ec38f0aff
https://doi.org/10.1007/s004390050721
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4
Two novel missense mutations causing adrenoleukodystrophy in Italian patients
Autor: Macarena Gomez-Lira, Enrico Bertini, Marco Cappa, Pier Franco Pignatti, Chiara Perusi, Nicolo' Rizzuto, M. C. Vigliani, Alessandro Salviati, Monica Mottes, D. Schiffer
Publikováno v: Molecular and cellular probes. 13(3)
The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALD
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1627fbc348cf03c559285f09456f17d
https://pubmed.ncbi.nlm.nih.gov/10369742
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5
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients
Autor: Monica Mottes, Nicolo' Rizzuto, Alessandro Salviati, Graziella Uziel, Macarena Gomez-Lira, Chiara Perusi, Pier Franco Pignatti
Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC--GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]). Bo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d9c02754c4cbb254d7e3b7f9c86454
http://hdl.handle.net/11562/11723
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7
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene
Autor: Macarena Gomez-Lira, Chiara Perusi, Alessandro Salviati, Monica Mottes, Nicolo' Rizzuto, Pier Franco Pignatti
A novel mutation, a C→T transition at nucleotide 455 of the coding sequence of the ARSA gene, was found in a control individual during the search for metachromatic leukodystrophy mutations. Its distribution in three different populations was examin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a705d526cac42baafdd529c33d90bd9a
http://hdl.handle.net/11562/3609
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8
A common ? hexosaminidase gene mutation in adult Sandhoff disease patients
Autor: Macarena Gomez-Lira, Monica Mottes, Antonella Sangalli, Pier Franco Pignatti, Nicolo' Rizzuto, Chiara Perusi, Alessandro Salviati
Publikováno v: Human Genetics. 96
beta-Hexosaminidase gene mutations were analyzed in two adult-onset Sandhoff disease Italian patients by PCR analysis of a common known mutation (delta 5') and by heteroduplex analysis of genomic and RT-PCR DNA fragments, covering the whole gene. The
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e909da43e6a66eb2e9525ccd58272c
https://doi.org/10.1007/bf00191799
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