Publications by authors named "Valeria Tiranti"

73Publications

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation.

Mol Genet Metab Rep 2020 Dec 28;25:100641. Epub 2020 Aug 28.

The Clinical School, University of Padova Department of Neurosciences Veneto Institute of Molecular Medicine Via Orus 2, Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2020.100641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476058PMC
December 2020

Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

Stem Cell Res 2020 10 3;48:101939. Epub 2020 Aug 3.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2020.101939DOI Listing
October 2020

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.

Pharmaceuticals (Basel) 2019 Feb 9;12(1). Epub 2019 Feb 9.

Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ph12010027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469182PMC
February 2019

Inborn errors of coenzyme A metabolism and neurodegeneration.

J Inherit Metab Dis 2019 01;42(1):49-56

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, Milan 20126, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12026DOI Listing
January 2019

Classification and molecular pathogenesis of NBIA syndromes.

Eur J Paediatr Neurol 2018 Mar 17;22(2):272-284. Epub 2018 Jan 17.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, 20126, Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.01.008DOI Listing
March 2018

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Neurogenetics 2017 Jul 29;18(3):175-178. Epub 2017 Jun 29.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-017-0518-4DOI Listing
July 2017

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

Mol Genet Metab 2017 06 18;121(2):180-189. Epub 2017 Apr 18.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.04.006DOI Listing
June 2017

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

EMBO Mol Med 2016 10 4;8(10):1197-1211. Epub 2016 Oct 4.

Proteomics of Iron Metabolism Unit, Division of Neuroscience San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, Italy

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15252/emmm.201606391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048368PMC
October 2016

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Acta Neuropathol Commun 2016 05 5;4(1):47. Epub 2016 May 5.

Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Via Zucchi, 18, Cusano Milanino, 20095, MI, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40478-016-0316-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858818PMC
May 2016

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Biochim Biophys Acta 2016 Aug 8;1857(8):1326-1335. Epub 2016 Mar 8.

Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbabio.2016.02.022DOI Listing
August 2016

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Brain 2016 Apr 25;139(Pt 4):1045-51. Epub 2016 Feb 25.

Department of Surgery and Transplantation, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww013DOI Listing
April 2016

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.

EMBO Mol Med 2015 Oct;7(10):1257-66

Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy

View Article

Download full-text PDF

Source
http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201505
Publisher Site
http://dx.doi.org/10.15252/emmm.201505040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604682PMC
October 2015

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.

Neurobiol Dis 2015 Sep 30;81:144-53. Epub 2015 Mar 30.

San Raffaele Scientific Institute, Division of Neuroscience, 20132 Milano, Italy; University Vita-Salute San Raffaele, 20132 Milano, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2015.02.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642744PMC
September 2015

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.

Int J Biochem Cell Biol 2015 Jun 7;63:25-31. Epub 2015 Feb 7.

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute "Carlo Besta", Via Temolo 4, 20126 Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biocel.2015.01.018DOI Listing
June 2015

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.

J Inherit Metab Dis 2015 Jan 10;38(1):123-36. Epub 2014 Oct 10.

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute "Carlo Besta", Via Temolo 4, 20126, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9770-zDOI Listing
January 2015

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.

Biochem Soc Trans 2014 Aug;42(4):1069-74

*Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute 'Carlo Besta', 20126 Milan, Italy.

View Article

Download full-text PDF

Source
http://www.biochemsoctrans.org/content/ppbiost/42/4/1069.ful
Web Search
http://biochemsoctrans.org/lookup/doi/10.1042/BST20140106
Publisher Site
http://dx.doi.org/10.1042/BST20140106DOI Listing
August 2014

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Int J Cell Biol 2014 4;2014:787956. Epub 2014 Feb 4.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute "C. Besta", Via Temolo 4, 20126 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2014/787956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932222PMC
June 2014

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

Cold Spring Harb Perspect Biol 2013 Jan 1;5(1):a011437. Epub 2013 Jan 1.

Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Unit of Molecular Neurogenetics, Institute of Neurology Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Foundation, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a011437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3579397PMC
January 2013

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Semin Pediatr Neurol 2012 Jun;19(2):75-81

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS, Foundation Neurological Institute C. Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S107190911200022
Publisher Site
http://dx.doi.org/10.1016/j.spen.2012.03.006DOI Listing
June 2012

Transcriptional requirements of the distal heavy-strand promoter of mtDNA.

Proc Natl Acad Sci U S A 2012 Apr 27;109(17):6508-12. Epub 2012 Mar 27.

Division of Child Rehabilitation, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1118594109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340101PMC
April 2012

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

J Inherit Metab Dis 2012 May 22;35(3):451-8. Epub 2011 Oct 22.

Department of Radiological, Oncological and Pathological Sciences, Sapienza University, Policlinico Umberto I, Viale Regina Elena 324, 00161 Rome, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-011-9408-3
Publisher Site
http://dx.doi.org/10.1007/s10545-011-9408-3DOI Listing
May 2012

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.

Hum Mol Genet 2011 Aug 17;20(15):2964-74. Epub 2011 May 17.

Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY 10065, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddr200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131042PMC
August 2011

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.

Antioxid Redox Signal 2011 Jul 25;15(2):353-62. Epub 2011 Feb 25.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Institute of Neurology Carlo Besta-IRCCS Foundation, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/ars.2010.3520DOI Listing
July 2011

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Nat Med 2010 Aug 25;16(8):869-71. Epub 2010 Jul 25.

The Foundation Carlo Besta Institute of Neurology, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm.2188DOI Listing
August 2010

How do human cells react to the absence of mitochondrial DNA?

PLoS One 2009 May 28;4(5):e5713. Epub 2009 May 28.

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0005713PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683933PMC
May 2009

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Nat Med 2009 Feb 11;15(2):200-5. Epub 2009 Jan 11.

Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Institute of Neurology Carlo Besta-Istituto di Ricovero e Cura a Carattere Scientifico Foundation, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm.1907DOI Listing
February 2009

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

BMJ Case Rep 2009 9;2009. Epub 2009 Jun 9.

Division of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders of Infancy and Childhood, National Institute of Neurology "C. Besta", Milan, Italy.

View Article

Download full-text PDF

Source
http://search.proquest.com/openview/99101163f18bed50b4cf3e7b
Web Search
http://casereports.bmj.com/cgi/doi/10.1136/bcr.05.2009.1889
Publisher Site
http://dx.doi.org/10.1136/bcr.05.2009.1889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030164PMC
November 2011

Phenotypic consequences of a novel SCO2 gene mutation.

Am J Med Genet A 2008 Nov;146A(21):2822-7

Department of Pathology, ErasmusMC University Medical Center, Rotterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32523DOI Listing
November 2008

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Am J Hum Genet 2008 Sep 4;83(3):415-23. Epub 2008 Sep 4.

Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2008.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2556431PMC
September 2008

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.

Biochim Biophys Acta 2009 Jan 21;1793(1):200-11. Epub 2008 Jun 21.

Department of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C. Besta, 20126 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamcr.2008.05.028DOI Listing
January 2009

Severe infantile hypotonia with ethylmalonic aciduria: case report.

J Child Neurol 2008 Jun;23(6):703-5

Department of Pediatrics, Division of the Pediatric Neurology, Mersin University Medical Faculty, Mersin, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073807313048DOI Listing
June 2008

Depletion of mtDNA: syndromes and genes.

Mitochondrion 2007 Feb-Apr;7(1-2):6-12. Epub 2006 Dec 5.

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation, IRCCS, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2006.11.010DOI Listing
July 2007

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

Am J Hum Genet 2007 Jan 15;80(1):44-58. Epub 2006 Nov 15.

Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Division of Molecular Neurogenetics, National Neurological Institute "Carlo Besta," Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/510559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785320PMC
January 2007

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

J Med Genet 2007 Mar 20;44(3):173-80. Epub 2006 Oct 20.

Division of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders of Infancy and Childhood, National Institute of Neurology C. Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2006.045252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2598032PMC
March 2007

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

Mol Genet Metab 2006 Dec 7;89(4):395-7. Epub 2006 Jul 7.

II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S109671920600189
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2006.05.010DOI Listing
December 2006

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Nat Genet 2006 May 2;38(5):570-5. Epub 2006 Apr 2.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, Milan 20126, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1765DOI Listing
May 2006

Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.

Mitochondrion 2002 Nov;2(1-2):39-46

Unit of Molecular Neurogenetics--Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, National Neurological Institute Carlo Besta, via Temolo 4, 20133, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1567-7249(02)00043-0DOI Listing
November 2002

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Am J Hum Genet 2004 Feb 19;74(2):239-52. Epub 2004 Jan 19.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181922PMC
http://dx.doi.org/10.1086/381653DOI Listing
February 2004

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Hum Mol Genet 2003 Feb;12(4):399-413

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, Istituto Nazionale Neurologico C. Besta-IRCCS, Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddg038DOI Listing
February 2003

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Ann Neurol 2002 Aug;52(2):211-9

Unit of Molecular Neurogenetics-Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.10278DOI Listing
August 2002

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Neuromuscul Disord 2002 Jan;12(1):49-52

Division of Biochemistry and Genetics, National Neurological Institute C. Besta via Celoria, 11. 20133 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0960-8966(01)00244-9DOI Listing
January 2002