Genomes and Genes
Affiliation: Foundation IRCCS Institute of Neurology "Besta"
Location: Milan, Italy
The main interest of Dr. Ghezzi is the discovery of new genes responsible for mitochondrial disorders and the characterization of their role. These disorders are very heterogeneous and hence the diagnosis is often difficult. Moreover mitochondrial dysfunctions are now clearly related to a wide range of disease conditions, above all neurodegeneration (i.e. Parkinsons disease).
- High frequency stimulation of the subthalamic nucleus is efficacious in Parkin diseaseLuigi M A Romito
Istituto Nazionale Neurologico Carlo Besta, Via G Celoria, 11, 20133 Milano, Italy
J Neurol 252:208-11. 2005..We confirm that the current inclusion criteria for STN HFS do not exclude patients carrying mutations in the parkin gene; their clinical outcome is comparable to that of the non-parkin group...
- Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiologyDaniele Ghezzi
Carlo Besta Institute of Neurology, Milan, Italy
Adv Exp Med Biol 748:65-106. 2012..We present an overview on the hypothesized assembly processes of the different MRC complexes, focusing on known assembly factors and their clinical importance...
- Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi
Unit of Molecular Neurogenetics, Fondazione IRCCS, Milan, Italy
Am J Hum Genet 90:1079-87. 2012..The respiratory yeast phenotype was dramatically worsened in stress conditions and in the presence of a paromomycin-resistant (P(R)) mitochondrial rRNA mutation. Lastly, in vivo mtDNA translation was impaired in the mutant yeast strains...
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutationsMarjan E Steenweg
VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands
Brain 135:1387-94. 2012....
- Infantile mitochondrial encephalopathyGraziella Uziel
Unit of Child Neurology, The Carlo Besta Neurological Institute Foundation IRCCS, Via Celoria 11, 20133 Milan, Italy
Semin Fetal Neonatal Med 16:205-15. 2011..e. the mitochondrial respiratory chain...
- Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesDaniele Ghezzi
Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology, Milan, Italy
Nat Genet 43:259-63. 2011..TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies...
- Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorDaniele Ghezzi
Division of Molecular Neurogenetics, The Carlo Besta Neurological Institute Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126, Milan, Italy
Am J Hum Genet 86:639-49. 2010....
- Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulatorCristina Dallabona
Department of Genetics, Biology of Microorganisms, Anthropology and Evolution, University of Parma, Parma 43100, Italy
Hum Mol Genet 19:1098-107. 2010....
- SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi
Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for Study of Children s Mitochondrial Disorders, Foundation IRCCS Neurological Institute C Besta, Milan, Italy
Nat Genet 41:654-6. 2009..SDHAF1 is the first bona fide SDH assembly factor reported in any organism...
- Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequenceDaniele Ghezzi
Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
Hum Mol Genet 18:1058-64. 2009..We found no difference in import efficiency and protein maturation between wild-type and mutant MR-1 variants. These results indicate that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS...
- FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi
Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, 20126 Milan, Italy
Am J Hum Genet 83:415-23. 2008..The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis...
- Parkin analysis in early onset Parkinson's diseaseFrancesca Sironi
Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy
Parkinsonism Relat Disord 14:326-33. 2008..735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype-phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients...
- PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta Marongiu
IRCCS CSS Mendel Institute, Rome, Italy
Hum Mutat 29:565. 2008..Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion...
- Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 familiesNardo Nardocci
Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy
Mov Disord 23:28-34. 2008..The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases...
- Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's diseaseRoberta Marongiu
IRCCS CSS, Mendel Institute, Rome
Mov Disord 21:1232-5. 2006..2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD...
- Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in ItaliansDaniele Ghezzi
Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy
Eur J Hum Genet 13:748-52. 2005..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD...
- Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda
Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Milan, Italy
Orphanet J Rare Dis 8:66. 2013....
- A novel homozygous mutation in SUCLA2 gene identified by exome sequencingCostanza Lamperti
Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126 Milan, Italy
Mol Genet Metab 107:403-8. 2012....