Genomes and Genes
Stefano Di Donato
Affiliation: Istituto Nazionale Neurologico Carlo Besta
- The gene coding for PGC-1alpha modifies age at onset in Huntington's DiseasePatrick 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...
- Spinocerebellar ataxia type 1Stefano Di Donato
UO Biochimica e Genetics, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Handb Clin Neurol 103:399-421. 2012....
- Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegenerationS 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...
- Multisystem manifestations of mitochondrial disordersStefano 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...
- Brain-derived neurotrophic factor in patients with Huntington's diseaseChiara 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...
- Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR dataManuela 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...
- The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activityStefano 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...
- Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesisCaterina 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...
- Mitochondrial disordersMassimo 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...
- Spinocerebellar ataxia type 28Caterina 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...
- 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 diseaseManuela 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...
- Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28Daniela Di Bella
Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Nat Genet 42:313-21. 2010....
- Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patientsCaterina 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...
- Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's diseaseValerio 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...
- Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian familiesC 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...
- Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of familiesL 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....
- Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionV 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...
- Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutationsC 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...
- Cerebellar/spinocerebellar syndromesC 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...
- Prevalence of inherited ataxias in the province of Padua, ItalyM 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...
- The search for cerebral biomarkers of Huntington's disease: a review of genetic models of age at onset predictionF Squitieri
Neurogenetics Unit, IRCCS Neuromed, Pozzilli Is, Italy
Eur J Neurol 13:408-15. 2006....
- A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsiesD 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...