Daniele Ghezzi

Summary

Affiliation: Foundation IRCCS Institute of Neurology "Besta"
Location: Milan, Italy
Summary:
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).

Publications

  1. ncbi High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease
    Luigi M A Romito
    Istituto Nazionale Neurologico Carlo Besta, Via G Celoria, 11, 20133 Milano, Italy
    J Neurol 252:208-11. 2005
  2. doi Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology
    Daniele Ghezzi
    Carlo Besta Institute of Neurology, Milan, Italy
    Adv Exp Med Biol 748:65-106. 2012
  3. pmc Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, Fondazione IRCCS, Milan, Italy
    Am J Hum Genet 90:1079-87. 2012
  4. doi Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
    Marjan E Steenweg
    VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands
    Brain 135:1387-94. 2012
  5. doi Infantile mitochondrial encephalopathy
    Graziella 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
  6. doi Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology, Milan, Italy
    Nat Genet 43:259-63. 2011
  7. pmc Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
    Daniele 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
  8. doi Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator
    Cristina Dallabona
    Department of Genetics, Biology of Microorganisms, Anthropology and Evolution, University of Parma, Parma 43100, Italy
    Hum Mol Genet 19:1098-107. 2010
  9. doi SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
    Daniele 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
  10. ncbi Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
    Daniele 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

Collaborators

Detail Information

Publications18

  1. ncbi High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease
    Luigi 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...
  2. doi Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology
    Daniele 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...
  3. pmc Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
    Daniele 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...
  4. doi Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
    Marjan E Steenweg
    VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands
    Brain 135:1387-94. 2012
    ....
  5. doi Infantile mitochondrial encephalopathy
    Graziella 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...
  6. doi Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
    Daniele 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...
  7. pmc Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
    Daniele 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
    ....
  8. doi Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator
    Cristina Dallabona
    Department of Genetics, Biology of Microorganisms, Anthropology and Evolution, University of Parma, Parma 43100, Italy
    Hum Mol Genet 19:1098-107. 2010
    ....
  9. doi SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
    Daniele 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...
  10. ncbi Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
    Daniele 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...
  11. pmc FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency
    Daniele 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...
  12. doi Parkin analysis in early onset Parkinson's disease
    Francesca 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...
  13. doi PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
    Roberta 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...
  14. ncbi Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families
    Nardo 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...
  15. ncbi Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
    Roberta 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...
  16. ncbi Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
    Daniele 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...
  17. pmc Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
    Laura Melchionda
    Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Milan, Italy
    Orphanet J Rare Dis 8:66. 2013
    ....
  18. pmc A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
    Costanza 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
    ....