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Distrofie Muscolari: eziologia e patogenesi

Cagliani R., Bresolin N., Prelle A., Gallanti A., Fortunato F., Sironi M., Ciscato P., Fagiolari G., Bonato S., Galbiati S., Corti S., Lamperti C., Moggio M., Comi G.P. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Neurology, 2003.,in press.

Cagliani R., Fortunato F, Giorda R, Rodolico C, Bonaglia C., Sironi M., D’Angelo G, Prelle A., Locatelli F, Toscano A, Bresolin N, Comi G.P. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscular Disorders, 2003, in press.

Pozzoli U, Elgar G, Cagliani R, Riva L, Comi GP, Bresolin N, Bardoni A, Sironi M. Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.
Genome Research. 2003 May;13(5):764-72.

Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathologica, 2003 Jun;105(6):537-42.

Sironi M., Pozzoli U., Cagliani R., Giorda R., Comi G.P., Bardoni A., Menozzi G., Bresolin N. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Human Genetics, 2003 Mar;112(3):272-88.

Sironi M., Caglian R., Bardoni A., Comi G.P., Bresolin N. The dystrophin gene is alternatively spliced throughout its coding sequence. FEBS Letters 517:163-166, 2002.

Pozzoli U., Sironi M., Cagliani R., Comi G.P., Bardoni A., Bresolin N. Comparative analysis of the human dystrophin and utrophin gene structures. Genetics, 160(2):793-798. 2002.

Sironi M., Pozzoli U., Cagliani R., Comi G.P, Bardoni A., Bresolin N. Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms Human Genetics, 109: 73-84, 2001.

Cagliani R., G.P. Comi, L. Tancredi, M. Sironi, F. Fortunato, R. Giorda, A. Bardoni, M. Moggio, A. Prelle, N. Bresolin, G. Scarlato. Primary Beta-Sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscular disorder, 11:389-394, 2001

Felisari G., Martinelli Boneschi F., Bardoni A., Sironi , Comi G.P., Bresolin N. Loss of Dp140 apodystrophin and intellectual impairment in Duchenne Dystrophy. Neurology, 55: 559-564, 2000.

Bardoni A., Sironi M., Felisari G., Comi G.P., Bresolin N. Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. The Lancet, 353: 897-898; 1999.

Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G. Sarcoglycan deficiency in a large italian population of myopathic patients. Acta Neuropathologica, 96: 509-514, 1998.

Prelle A, Comi GP, Rigoletto C, Turconi A, Felisari G, Ciscato P, Fortunato F, Messina S, Bresolin N, Mora M, et al. An atypical case of partial merosin deficiency congenital muscular dystrophy. Journal of Neurology, 391-395,1997.

Comi G.P., Ciafaloni E., Da Silva R.H.A., Prelle A., Bardoni A., Rigoletto C., Robotti M., Bresolin N., Moggio M., Fortunato F., et al. A G+1>A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. Human Molecular Genetics, 4: 2171-2174, 1995.

Bresolin N., Castelli E., Comi G.P., Felisari G., Bardoni A., Perani D., Grassi F., Turconi A., Mazzucchelli F., Gallotti D., et al. Cognitive impairment in Duchenne Muscular Dystrophy. Neuromuscular Disorders, 4 (4): 359-369, 1994.

Fassati A, Tedeschi S, Bordoni A, Amboni P, Curcio C, Bresolin N, Scarlato G.
Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies.
Lancet. 1994 Jul 30;344(8918):302-3.

Comi G.P., Prelle A., Bresolin N., Moggio M., Bardoni A., Gallanti A., Vita G. , Toscano A., Ferro' M.T., Bordoni A., et al. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain, 117, 1-14, 1994.

Encefalopatie mitocondriali

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP.
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Neurology. 2003; 60:1857-61

Crimi M., Galbiati S., Perini M.P., Bordoni A., Malferrari G., Sciacco M., Biunno I., Strazzer S., Moggio M., Bresolin N., Comi G.P. A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness. Neurology, 2003; 60:1200-3.

Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A., Spelbrink H., Silvestri L., Casari G., Comi G.P., Zeviani M. Mutations of mitochondrial DNA polymerase gA are a frequent cause of autosomal dominant or recessive Progressive External Ophthalmoplegia. Annals of Neurology, 52:211-219, 2002

Napoli L. , Bordoni A., Zeviani M., Hadjigeorgiou G.M., Sciacco M., Tiranti V., Terentiou A, Moggio M., Papadimitriou A., Scarlato G., Comi G.P. A novel missense Adenine Nucleotide Translocator-1 gene mutation in a Greek adPEO family. Neurology, 57: 2295-2298, 2001.

Spelbring J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M., Wanrooij S., Garrido N., Comi G.P., Morandi L., Santoro L., Toscano A., Fabrizi G.M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene for TWINKLE, a phage T7 gene 4-like protein localized to mitochondrial nucleoids. Nature Genetics, 28:223-31, 2001.

Sciacco M., Prelle A., Comi G.P., Napoli L., Battistel A., Bresolin N., Tancredi L., Lamperti C., Bordoni A., Fagiolari G., Chiveri L., Perini M.P., Fortunato F., Adobbati L., Messina S., Toscano A., Martinelli-Boneschi F., Papadimitriuou A., Scarlato G., Moggio M. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. Journal of Neurology, 248: 778-788, 2001.

Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science, 289: 782-785, 2000.

Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. American Journal of Human Genetics 1999

Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, Napoli L, Prelle A, Moggio M,. Fagiolari G, Bresolin N, Salani S, Anastasopoulos I, Giassakis G, Divari R, Scarlato G. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology, 51: 1086-1092, 1998.

Chomyn A, Lai ST, Shakeley R, Bresolin N, Scarlato G, Attardi G.
Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.
Am J Hum Genet. 1994; 54(6):966-74.

Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S.
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
Am J Hum Genet. 1990; 47:904-14.

Bresolin N., Bet L., Binda A., Moggio M., Comi G., Nador F., Ferrante C., Carenzi A. Scarlato G. Clinical and biochemical correlations in mitochondrial myopathies treated with Coenzyme Q10. Neurology, 38, 6, 892-899, 1988.

Bresolin N, Moggio M, Bet L, Gallanti A, Prelle A, Nobile-Orazio E, Adobbati L, Ferrante C, Pellegrini G, Scarlato G. Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues. Ann Neurol. 1987; 21:564-72.

Miopatie metaboliche

Lucchiari S., Fogh I., Parini R., Bresolin N., Prelle A., Melis D., Scarlato G., Comi G.P.Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
American Journal of Medical Genetics 109:183-90; 2002.

Comi G.P, Fortunato F., Lucchiari S., Bordoni A., Prelle A., Jann S., Keller A., Ciscato P., Galbiati S., Chiveri L., Torrente Y., Scarlato G., Bresolin N. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals of Neurology, 50: 202-207, 2001.

Hadjigeorgiou G.M., Comi G.P., Bordoni A., Shen J., Chen Y-T., Salani S., Toscano A., Fortunato F., Lucchiari S., Bresolin N., Rodolico C., Piscaglia M.G., Franceschina L., Papadimitriou A., Scarlato G. Novel donor splice site mutations of AGL gene in Glycogen Storage Disease type IIIa Journal of Inherited Metabolic Disease, 22: 762-763; 1999.

Meola G, Sansone V, Rotondo G, Radice S, Sterlicchio M, Mauri M, Bresolin N, Moggio M.
Neural regulation of acid maltase in an unusual adult onset deficiency.
Clin Neuropathol. 1994 Sep-Oct;13(5):286-91.

Vita G, Migliorato A, Toscano A, Bordoni A, Bresolin N, Fiumara A, Messina C.
Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency.
Muscle Nerve. 1994 Jun;17(6):655-61.

Vita G, Toscano A, Bresolin N, Meola G, Fortunato F, Baradello A, Barbiroli B, Frassineti C, Zaniol P, Messina C.
Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.
J Neurol. 1994 Mar;241(5):289-94.

Bresolin N, Comi GP, Fortunato F, Meola G, Gallanti A, Tajana A, Velicogna M, Gonano EF, Ninfali P, Pifferi S, et al.
Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
J Neurol. 1993 May;240(5):272-7.

Mongini T, Doriguzzi C, Palmucci L, De Francesco A, Bet L, Manfredi L, Ponzetto C, Bresolin N.
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Eur Neurol. 1992;32(3):170-6.

Ageing e patologie neurodegenerative

Mariani C, Bresolin N, Farina E, Moggio M, Ferrante C, Ciafaloni E, Sertorelli S, Ciccone A, Scarlato G.
Muscle biopsy in Alzheimer's disease: morphological and biochemical findings.
Clin Neuropathol. 1991;10:171-6.

Laderman KA, Penny JR, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G.
Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells.
J Biol Chem. 1996; 271:15891-7.

Del Bo, G.P. Comi, N. Bresolin, E. Castelli, E. Conti, A. Degiuli, C.D. Ausenda and G. Scarlato. The Apolipoprotein E ?4 allele causes a faster decline of cognitive performances in Down’s syndrome subjects. Journal of the Neurological Sciences, 145: 87-91, 1997.

Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW, Scarlato G. Cytochrome c Oxidase Subunit I microdeletion in a patient with Motor Neuron Disease. Annals of Neurology, 43, 110-116, 1998.

Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G.
Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication.
Science. 1999; 286:774-9.

Roberto Del Bo, Giacomo Pietro Comi, Maria Paola Perini, Sandra Strazzer, Nereo Bresolin, Guglielmo Scarlato. Down syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations. Annals of Neurology, 49:137-138, 2001.

Del Bo R., Bordoni A., Martinelli Boneschi F., Crmi M., Sciacco M, Bresolin N, Scarlato G, Comi G.P. Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients. Journal of Neurological Science 202: 85-91, 2002.

Del Bo R., Crimi M. , Sciacco M., Malferrari G., Napoli L., Prelle A., Biunno I., Moggio M., Bresolin N., Scarlato G., Comi G.P. High mutational burden in the mtDNA control region from aged muscles: a single-fiber study. Neurobiology of Aging, 2003; 24:829-38.

Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U, Castelli E, Bresolin N, Scarlato G.
The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects.
Journal of Neurology 2003;250:688-92.

Terapia Genica Cellulomediata

Corti S, Strazzer S, Del Bo R, Salani S, Bossolasco P, Fortunato F, Locatelli F, Soligo D, Moggio M, Ciscato P, Prelle A, Borsotti C, Bresolin N, Scarlato G, Comi GP. A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse. Exp Cell Res. 2002 Jul 1;277(1):74-85.

Corti S, Locatelli F., Strazzer S, Salani S., Del Bo R., Soligo D., Bossolasco P., Bresolin N., Scarlato N., Comi G.P. Modulated generation of neuronal cells from bone marrow by expansion and mobilization of circulating stem cells with in vivo cytokine treatment. Experimental Neurology 177:443-52; 2002.

Corti S, Locatelli F., Donadoni C., Strazzer S, Salani S., Del Bo R., Caccialanza M., Bresolin N., Scarlato N., Comi G.P. Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord and sensory ganglia. Journal of Neuroscence Research, 70:721-33, 2002

Corti S, Locatelli F, Strazzer S, Guglieri M, Comi GP. Neuronal generation from somatic stem cells: current knowledge and perspectives on the treatment of acquired and degenerative central nervous system disorders. Current Gene Therapy. 2003 Jun;3(3):247-72.