Search Results - "DIDONATO, S"

Biological abnormalities of peripheral A2A receptors in a large representation of polyglutamine disorders and Huntington's disease stages by Varani, K, Bachoud-Lévi, A.-C, Mariotti, C, Tarditi, A, Abbracchio, M.P, Gasperi, V, Borea, P.A, Dolbeau, G, Gellera, C, Solari, A, Rosser, A, Naji, J, Handley, O, Maccarrone, M, Peschanski, Marc, DiDonato, S, Cattaneo, E

“…Abstract Huntington’s disease is one of a group of hereditary neurodegenerative diseases characterized by a glutamine expansion (polyQ) in proteins which are…”
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MASSIVE STAR-FORMING HOST GALAXIES OF QUASARS ON SLOAN DIGITAL SKY SURVEY STRIPE 82 by Matsuoka, Yoshiki, Strauss, Michael A, Price, Ted N, DiDonato, Matthew S

“…The stellar properties of about 800 galaxies hosting optically luminous, unobscured quasars at z < 0.6 are analyzed. Deep co-added Sloan Digital Sky Survey…”
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Biological abnormalities of peripheral A(2A) receptors in a large representation of polyglutamine disorders and Huntington's disease stages by Varani, K, Bachoud-Lévi, A-C, Mariotti, C, Tarditi, A, Abbracchio, M P, Gasperi, V, Borea, P A, Dolbeau, G, Gellera, C, Solari, A, Rosser, A, Naji, J, Handley, O, Maccarrone, M, Peschanski, Marc, DiDonato, S, Cattaneo, E

“…Huntington's disease is one of a group of hereditary neurodegenerative diseases characterized by a glutamine expansion (polyQ) in proteins which are expressed…”
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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR) by Zeviani, M, Gellera, C, Antozzi, C, Rimoldi, M, Morandi, L, Villani, F, Tiranti, V, DiDonato, S

“…Different point mutations of the mitochondrial genome, which all affect the ability of mitochondria to translate their own genes and lead to partial defects of…”
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Deletion mapping of gliomas suggests the presence of two small regions for candidate tumor-suppressor genes in a 17-cM interval on chromosome 10q by ALBAROSA, R, COLOMBO, B. M, ROZ, L, MAGNANI, I, POLLO, B, CIRENEI, N, GIANI, C, FUHRMAN CONTI, A. M, DIDONATO, S, FINOCCHIARO, G

“…The loss of genetic material on chromosome 10q is frequent in different tumors and particularly in malignant gliomas. We analyzed 90 of these tumors and found…”
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Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations by Verderio, E, Cavadini, P, Montermini, L, Wang, H, Lamantea, E, Finocchiaro, G, DiDonato, S, Gellera, C, Taroni, F

“…Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. To facilitate the…”
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MASSIVE STAR-FORMING HOST GALAXIES OF QUASARS ON SLOAN DIGITAL SKY SURVEY STRIPE 82 by Matsuoka, Yoshiki, Strauss, Michael A., Price, Ted N., DiDonato, Matthew S.

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Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients by DIDONATO, S, ZEVIANI, M, GIOVANNINI, P, SAVARESE, N, RIMOLDI, M, MARIOTTI, C, GIROTTI, F, CARACEMI, T

“…There are several reports of a defect of complex I in the substantia nigra (SN) of Parkinson's disease (PD) patients. To evaluate whether this is specific to…”
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A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene by Zeviani, M, Muntoni, F, Savarese, N, Serra, G, Tiranti, V, Carrara, F, Mariotti, C, DiDonato, S

“…Several members of a three-generation kindred from Sardinia were affected by a maternally inherited syndrome characterized by features of both myoclonus…”
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cDNA Cloning, Sequence Analysis, and Chromosomal Localization of the Gene for Human Carnitine Palmitoyltransferase by Finocchiaro, Gaetano, Taroni, Franco, Rocchi, Mariano, Martin, Antonio Liras, Colombo, Irma, Tarelli, Giovanna Torra, DiDonato, Stefano

“…We have cloned and sequenced a cDNA encoding human liver carnitine palmitoyltransferase (CPTase; palmitoyl-CoA:L-carnitine O-palmitoyltransferase, EC…”
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Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency by ANTOZZI, C, GARAVAGLIA, B, MORA, M, RIMOLDI, M, MORANDI, L, URSINO, E, DIDONATO, S

“…We studied the effect of riboflavin treatment on the clinical status and on the activities of beta-oxidation and respiratory chain enzymes in a 69-year-old…”
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Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene by Gellera, C, Meoni, C, Castellotti, B, Zappacosta, B, Girotti, F, Taroni, F, DiDonato, S

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Molecular Characterization of Inherited Carnitine Palmitoyltransferase II Deficiency by Taroni, Franco, Verderio, Elisabetta, Fiorucci, Stefania, Cavadini, Patrizia, Finocchiaro, Gaetano, Uziel, Graziella, Lamantea, Eleonora, Gellera, Cinzia, DiDonato, Stefano

“…Deficiency of carnitine palmitoyltransferase II (CPTase II; palmitoyl-CoA:L-carnitine O-palmitoyltransferase, EC 2.3.1.21) is a clinically heterogeneous…”
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Divergent sequences in the 5' region of cDNA suggest alternative splicing as a mechanism for the generation of carnitine acetyltransferases with different subcellular localizations by CORTI, O, DIDONATO, S, FINOCCHIARO, G

“…We identified two partially overlapping cDNAs containing divergent 5' sequences of human carnitine acetyltransferase (CAT). cDNA lambda SM-1400 extends the…”
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Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies by Zeviani, M, Gellera, C, Pannacci, M, Uziel, G, Prelle, A, Servidei, S, DiDonato, S

“…By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions…”
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Pathways to motor incoordination: the inherited ataxias by DiDonato, Stefano, Taroni, Franco

“…Two groups of hereditary ataxias are most relevant to humans -- the autosomal recessive ataxias and the autosomal dominant spinocerebellar ataxias. Recessive…”
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Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes by GELLERA, C, UZIEL, G, RIMOLDI, M, ZEVIANI, M, LAVERDA, A, CARRARA, F, DIDONATO, S

“…A 7-month-old boy died in a demented state after a clinical history characterized by generalized seizures, psychomotor deterioration, and fumaric aciduria. We…”
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Primary carnitine deficiency : heterozygote and intrafamilial phenotypic variation by GARAVAGLIA, B, UZIEL, G, DWORZAK, F, CARRARA, F, DIDONATO, S

“…Two boys from different families had primary carnitine deficiency: one had cardiomyopathy and myopathy, and the other had hypoglycemia and myopathy but no…”
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Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1 by Corti, O, Finocchiaro, G, Rossi, E, Zuffardi, O, DiDonato, S

“…Using a combination of PCR screening of cDNA libraries and reverse transcription PCR, we have cloned three overlapping DNA fragments that encode human…”
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The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients by Metzger, Silke, Walter, Carolin, Riess, Olaf, Roos, Raymund A C, Nielsen, Jørgen E, Craufurd, David, Nguyen, Huu Phuc

“…The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with…”
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