Stefano Di Donato

Summary

Affiliation: Istituto Nazionale Neurologico Carlo Besta
Country: Italy

Publications

  1. pmc The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease
    Patrick Weydt
    Department of Neurology, University of Ulm P, W, G, B, L, Ulm, Germany
    Mol Neurodegener 4:3. 2009
  2. ncbi request reprint Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration
    S Di Donato
    Division of Biochemistry and Genetics, Istituto Nazionale Neurologico C Besta, Milan, Italy
    J Inherit Metab Dis 23:247-63. 2000
  3. doi request reprint Spinocerebellar ataxia type 1
    Stefano Di Donato
    UO Biochimica e Genetics, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Handb Clin Neurol 103:399-421. 2012
  4. doi request reprint Multisystem manifestations of mitochondrial disorders
    Stefano Di Donato
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano via Celoria 11, Milan 20133, Italy
    J Neurol 256:693-710. 2009
  5. pmc Brain-derived neurotrophic factor in patients with Huntington's disease
    Chiara Zuccato
    Department of Pharmacological Sciences and Center for Stem Cell Research, Universita degli Studi di Milano, Milan, Italy
    PLoS ONE 6:e22966. 2011
  6. pmc Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    Manuela Marullo
    Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, 9 Via Balzaretti, Milan, 20133, Italy
    Genome Biol 11:R9. 2010
  7. doi request reprint The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity
    Stefano Camnasio
    Department of Pharmacological Sciences and Centre for Stem Cell Research, University of Milan, Milan, Italy
    Neurobiol Dis 46:41-51. 2012
  8. doi request reprint Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis
    Caterina Mariotti
    Unit of Biochemistry and Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Cerebellum 7:184-8. 2008
  9. pmc Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression
    Valerio Leoni
    Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Institute of Neurology Carlo Besta, Milan, Italy
    Neurobiol Dis 55:37-43. 2013
  10. doi request reprint Spinocerebellar ataxia type 28
    Caterina Mariotti
    Unitâ di Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Handb Clin Neurol 103:575-9. 2012

Collaborators

Detail Information

Publications23

  1. pmc The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease
    Patrick Weydt
    Department of Neurology, University of Ulm P, W, G, B, L, Ulm, Germany
    Mol Neurodegener 4:3. 2009
    ..To our knowledge this is the first study to show clinically relevant effects of the PGC-1alpha system on the course of Huntington's disease in humans...
  2. ncbi request reprint Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration
    S Di Donato
    Division of Biochemistry and Genetics, Istituto Nazionale Neurologico C Besta, Milan, Italy
    J Inherit Metab Dis 23:247-63. 2000
    ..To better focus on OXPHOS genotype-phenotype correlations, mutations of the mtDNA-encoded structural genes are also discussed...
  3. doi request reprint Spinocerebellar ataxia type 1
    Stefano Di Donato
    UO Biochimica e Genetics, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Handb Clin Neurol 103:399-421. 2012
    ....
  4. doi request reprint Multisystem manifestations of mitochondrial disorders
    Stefano Di Donato
    Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano via Celoria 11, Milan 20133, Italy
    J Neurol 256:693-710. 2009
    ..The available information on putative genotype-phenotype correlations and the related pathogenic mechanisms are summarized when appropriate...
  5. pmc Brain-derived neurotrophic factor in patients with Huntington's disease
    Chiara Zuccato
    Department of Pharmacological Sciences and Center for Stem Cell Research, Universita degli Studi di Milano, Milan, Italy
    PLoS ONE 6:e22966. 2011
    ..We also wish to warn the scientific community in interpreting the significance of changes measured in BDNF protein levels in serum from patients suffering from different conditions...
  6. pmc Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    Manuela Marullo
    Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, 9 Via Balzaretti, Milan, 20133, Italy
    Genome Biol 11:R9. 2010
    ..This result is particularly important for clinical diagnosis and biomarker validation studies based on mRNA detection in human blood...
  7. doi request reprint The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity
    Stefano Camnasio
    Department of Pharmacological Sciences and Centre for Stem Cell Research, University of Milan, Milan, Italy
    Neurobiol Dis 46:41-51. 2012
    ..The CAG stability and lysosomal activity represent novel observations in HD-iPS cells. In the future, these cells may provide the basis for a powerful platform for drug screening and target identification in HD...
  8. doi request reprint Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis
    Caterina Mariotti
    Unit of Biochemistry and Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Cerebellum 7:184-8. 2008
    ..Our data point to a putative pathogenic role of these mutations, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations...
  9. pmc Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression
    Valerio Leoni
    Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Institute of Neurology Carlo Besta, Milan, Italy
    Neurobiol Dis 55:37-43. 2013
    ..The results are interpreted in terms of cholesterol synthesis and neuronal degeneration. This study provides evidence that 24OHC is a relatively important marker of HD progression...
  10. doi request reprint Spinocerebellar ataxia type 28
    Caterina Mariotti
    Unitâ di Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Handb Clin Neurol 103:575-9. 2012
    ..Both mutations are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations...
  11. doi request reprint Analysis of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy of non-neuronal genes in peripheral lymphocytes from patients with Huntington's disease
    Manuela Marullo
    Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, Milan, Italy
    Brain Pathol 20:96-105. 2010
    ..Chromatin immunoprecipitation (ChIP) of the RE1/NRSE sites in lymphocytes may therefore be a reproducible, sensitive and specific means of searching for candidate markers of HD onset and progression...
  12. ncbi request reprint Mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics, Istituto Nazionale Neurologico C Besta, Via Celoria 11 20133 Milan, Italy
    Brain 127:2153-72. 2004
    ..This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS...
  13. doi request reprint Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
    Daniela Di Bella
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Nat Genet 42:313-21. 2010
    ....
  14. doi request reprint Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease
    Valerio Leoni
    Unit Biochemistry and Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Brain 131:2851-9. 2008
    ..We conclude that that 24OHC levels complement MRI morphometry as a valuable tool to follow neurodegenerative changes in the early stages of Huntington disease...
  15. ncbi request reprint Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients
    Caterina Mariotti
    Division of Biochemistry and Genetics, Fondazione IRCCS Istituto Neurologico, C Besta, Milan, Italy
    J Neurol 254:1538-46. 2007
    ..Our clinical data confirm the large variability in SCA17 phenotypic presentation, and indicate that a peculiar combination of neuroradiological, electrophysiological and oculomotor findings is recognizable in SCA17...
  16. ncbi request reprint Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families
    C Mariotti
    Division of Biochemistry and Genetics, C Besta National Neurological Institute, Via Celoria 11, I 20133 Milan, Italy
    Neurol Sci 25:130-7. 2004
    ..However, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy. Prompt genetic characterization of AVED patients may allow an effective early treatment and an adequate genetic counseling...
  17. pmc Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families
    L Cavalier
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut Nationale de la Sante et de la Recherche Medicale Universite Louis Pasteur, Strasbourg, France
    Am J Hum Genet 62:301-10. 1998
    ....
  18. ncbi request reprint Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    V Campuzano
    Department de Genetica, University of Valencia, Spain
    Science 271:1423-7. 1996
    ..A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron...
  19. ncbi request reprint The search for cerebral biomarkers of Huntington's disease: a review of genetic models of age at onset prediction
    F Squitieri
    Neurogenetics Unit, IRCCS Neuromed, Pozzilli Is, Italy
    Eur J Neurol 13:408-15. 2006
    ....
  20. ncbi request reprint Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
    C Gellera
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS, Carlo Besta, Via Celoria 11, 20133, Milan, Italy
    Neuromuscul Disord 11:404-10. 2001
    ..In addition, in one SALS patient we identified an A95T amino acid substitution, that is apparently a non-pathogenic SOD1 variant. Our study increases the number of ALS-associated SOD1 gene mutations...
  21. ncbi request reprint Cerebellar/spinocerebellar syndromes
    C Mariotti
    Division of Biochemistry and Genetics, C. Besta National Neurological Institute, Milan, Italy
    Neurol Sci 22:S88-92. 2001
    ..Distinguishing clinical features, diagnostic procedures, and frequency of specific genotypes in Italian patients are presented...
  22. ncbi request reprint Prevalence of inherited ataxias in the province of Padua, Italy
    M Zortea
    Department of Neurological and Psychiatric Sciences, University of Padua, Padua, Italy
    Neuroepidemiology 23:275-80. 2004
    ..There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease...
  23. pmc A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
    D Lorenzetti
    Istituto Nazionale Neurologico C Besta, Milan
    Am J Hum Genet 56:91-8. 1995
    ..5-Mb HNPP deletion in seven of nine Italian families included in this study. These findings suggest that a 1.5-Mb deletion on 17p11.2-p12 is the most common mutation associated with HNPP...