Massimo Zeviani

Massimo Zeviani

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Massimo Zeviani

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Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy!

Cell Metab 2019 Oct;30(4):628-629

MRC-Mitochondrial Biology Unit, Cambridge CB2 0XY, UK; Department of Neurosciences, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2019.09.004DOI Listing
October 2019

Mitochondrial complex III Rieske Fe-S protein processing and assembly.

Cell Cycle 2018 10;17(6):681-687. Epub 2018 Apr 10.

a MRC-Mitochondrial Biology Unit , University of Cambridge , Hills Road, CB2 0XY , Cambridge , UK.

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http://dx.doi.org/10.1080/15384101.2017.1417707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5969560PMC
September 2019

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.

PLoS Genet 2019 01 3;15(1):e1007781. Epub 2019 Jan 3.

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.

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http://dx.plos.org/10.1371/journal.pgen.1007781
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http://dx.doi.org/10.1371/journal.pgen.1007781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317783PMC
January 2019

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy.

Cell Metab 2018 11 16;28(5):764-775.e5. Epub 2018 Aug 16.

MRC Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building Hills Road, Cambridge CB2 0XY, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15504131183045
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http://dx.doi.org/10.1016/j.cmet.2018.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224544PMC
November 2018

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Nucleic Acids Res 2018 10;46(18):9471-9483

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, Sweden.

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http://dx.doi.org/10.1093/nar/gky708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182146PMC
October 2018

Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy.

J Med Genet 2018 09 15;55(9):599-606. Epub 2018 May 15.

Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2018-105330DOI Listing
September 2018

Human diseases associated with defects in assembly of OXPHOS complexes.

Essays Biochem 2018 07 20;62(3):271-286. Epub 2018 Jul 20.

Medical Research Council - Mitochondrial Biology Unit, University of Cambridge, Cambridge, U.K.

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http://dx.doi.org/10.1042/EBC20170099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056716PMC
July 2018

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Hum Gene Ther 2018 06 26;29(6):708-718. Epub 2018 Feb 26.

1 Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona , Barcelona, Spain .

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http://dx.doi.org/10.1089/hum.2017.133DOI Listing
June 2018

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

J Child Neurol 2018 05 26;33(6):428-431. Epub 2018 Mar 26.

4 Department of Pathology, G.B. Pant Hospital, New Delhi, India.

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http://dx.doi.org/10.1177/0883073818760875DOI Listing
May 2018

Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization.

Int J Mol Sci 2018 Mar 7;19(3). Epub 2018 Mar 7.

Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, Via Francesco Selmi 3, 40126 Bologna, Italy.

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http://dx.doi.org/10.3390/ijms19030764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877625PMC
March 2018

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Turk J Haematol 2017 12 23;34(4):376-377. Epub 2017 Aug 23.

Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy.

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http://dx.doi.org/10.4274/tjh.2017.0231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774363PMC
December 2017

MtDNA-maintenance defects: syndromes and genes.

J Inherit Metab Dis 2017 07 21;40(4):587-599. Epub 2017 Mar 21.

MRC-Mitochondrial Biology Unit, MRC MBU, Wellcome Trust/MRC Building, Hills Road, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1007/s10545-017-0027-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500664PMC
July 2017

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

Mol Cell 2017 Jul 29;67(1):96-105.e4. Epub 2017 Jun 29.

MRC Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building Hills Road, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2017.06.001DOI Listing
July 2017

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

Pure myopathy with enlarged mitochondria associated to a new mutation in gene.

Mol Genet Metab Rep 2017 Mar 15;10:24-27. Epub 2016 Dec 15.

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217772PMC
March 2017

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Hum Reprod 2017 03;32(3):698-703

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/humrep/dew356DOI Listing
March 2017

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency.

EBioMedicine 2017 Mar 16;17:75-87. Epub 2017 Feb 16.

INSERM UMR 1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2017.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360583PMC
March 2017

Transcription Factor EB Controls Metabolic Flexibility during Exercise.

Cell Metab 2017 01 20;25(1):182-196. Epub 2016 Dec 20.

Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Naples, Italy; Medical Genetics, Department of Pediatrics, Federico II University, Via Pansini 5, 80131 Naples, Italy; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241227PMC
January 2017

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Neurology 2016 Nov 28;87(22):2290-2299. Epub 2016 Oct 28.

From the Research Programs Unit, Molecular Neurology (J.M.L., S.F., H.L., M.A., P.I.), Faculty of Medicine/Clinicum, Oncology (P.O.), and Finland Genome Scale Biology Program (S.L.), University of Helsinki, Finland; Mitochondrial Medicine Group (E.B., C.V., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, UK; Center for Physiology and Pathophysiology (O.R.B., R.J.W.), Institute of Vegetative Physiology, University of Köln, Germany; Transplantation and Liver Surgery Clinic (H.I., K.H.), Department of Oncology (P.O., S.L.), and Heart and Lung Center, Department of Cardiology (T.H.), Helsinki University Hospital; School of Medicine (M.H., J.J., R.L.), University of Tampere; Anaesthesiology, Intensive Care and Pain Medicine (R.M.), Clinical Neurosciences, Neurology (H.L., M.A., A.S.), and Child Neurology, Children's Hospital (P.I.), University of Helsinki and Helsinki University Hospital, Finland; Dyslipidemia Center (G.M.), Cardiotoracovascular Department, Niguarda Hospital, Milan, Italy; PEDEGO Research Unit (J.U.) and Biocenter Oulu (J.U.), University of Oulu; Finnish Clinical Biobank Tampere (R.L.), Tampere University Hospital, Finland; Nijmegen Centre for Mitochondrial Disorders (J.S.), Radboud University Medical Centre, Nijmegen, the Netherlands; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) (R.J.W.), Köln; Center for Molecular Medicine Cologne (R.J.W.), CMMC, University of Köln, Germany; Faculty of Life and Environmental Sciences (K.N.), University of Tsukuba, Japan; and Medical Research Center Oulu (J.U.), Oulu University Hospital and University of Oulu, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000003374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270510PMC
November 2016

Mitochondrial Matchmaking.

N Engl J Med 2016 Nov;375(19):1894-1896

From the MRC Mitochondrial Biology Unit (P.F.C., M.Z.) and the Department of Clinical Neurosciences (P.F.C.) - both at the Cambridge Biomedical Campus, University of Cambridge, Cambridge, United Kingdom.

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http://www.nejm.org/doi/10.1056/NEJMcibr1608715
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http://dx.doi.org/10.1056/NEJMcibr1608715DOI Listing
November 2016

Mitochondrial diseases.

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

Myoclonus epilepsy in mitochondrial disorders.

Epileptic Disord 2016 Sep;18(S2):94-102

MRC-Mitochondrial Biology Unit, Cambridge, United Kingdom.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2016.0846DOI Listing
September 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:

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

Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect.

Data Brief 2016 Jun 26;7:1004-9. Epub 2016 Mar 26.

Institute of Physiology of the Czech Academy of Sciences, Vídeňská 1083, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.dib.2016.03.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927972PMC
June 2016

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.

Biochim Biophys Acta 2016 04 13;1862(4):705-715. Epub 2016 Jan 13.

Institute of Physiology of the Czech Academy of Sciences, Vídeňská 1083, Prague, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793088PMC
April 2016

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

Proteomics 2016 Apr 16;16(7):1166-76. Epub 2016 Mar 16.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1002/pmic.201500336DOI Listing
April 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.

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

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Cell Metab 2016 Feb 31;23(2):292-302. Epub 2015 Dec 31.

Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, 20892, Bethesda, MD, USA. Electronic address:

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http://www.cell.com/cell-metabolism/pdf/S1550-4131(15)00620-
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http://linkinghub.elsevier.com/retrieve/pii/S155041311500620
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http://dx.doi.org/10.1016/j.cmet.2015.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749439PMC
February 2016

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.

Eur J Paediatr Neurol 2016 Jan 3;20(1):152-7. Epub 2015 Sep 3.

Unit of Neuropediatry, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.08.006DOI Listing
January 2016

Severe early onset ethylmalonic encephalopathy with West syndrome.

Metab Brain Dis 2015 Dec 21;30(6):1537-45. Epub 2015 Jul 21.

Division of Child Neurology, Department of Paediatrics, Sapienza University of Rome, Rome, Italy.

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http://link.springer.com/content/pdf/10.1007%2Fs11011-015-97
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http://link.springer.com/10.1007/s11011-015-9707-8
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http://dx.doi.org/10.1007/s11011-015-9707-8DOI Listing
December 2015

Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics.

Proc Natl Acad Sci U S A 2015 Nov 27;112(45):13910-5. Epub 2015 Oct 27.

Scuola Normale Superiore, 56126 Pisa, Italy; Institute of Neuroscience, Italian National Research Council, 56124 Pisa, Italy;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1515190112
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http://dx.doi.org/10.1073/pnas.1515190112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653140PMC
November 2015

Emerging concepts in the therapy of mitochondrial disease.

Biochim Biophys Acta 2015 Jun-Jul;1847(6-7):544-57. Epub 2015 Mar 10.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, 20133 Milan, Italy; MRC-Mitochondrial Biology Unit, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2015.03.001DOI Listing
August 2015

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

EMBO Mol Med 2015 Jul;7(7):918-29

Molecular Neurogenetics Unit, Foundation IRCCS Institute of Neurology "Carlo Besta", Milan, Italy MRC Mitochondrial Biology Unit, CB2 0XY, Cambridge, UK

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http://embomolmed.embopress.org/cgi/doi/10.15252/emmm.201404
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http://dx.doi.org/10.15252/emmm.201404803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520657PMC
July 2015

The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage.

Cell Metab 2015 Jun;21(6):834-44

Dulbecco Telethon Institute, Venetian Institute of Molecular Medicine, Via Orus 2, 35129 Padova, Italy; Department of Biology, University of Padova, Via C. Colombo 3, 35121 Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457892PMC
June 2015

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

J Neurol 2015 May 21;262(5):1216-27. Epub 2015 Mar 21.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina, 60, 20132, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-015-7696-5DOI Listing
May 2015

Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Front Genet 2015 9;6:134. Epub 2015 Apr 9.

Mitochondrial Biology Unit, Medical Research Council Cambridge, UK.

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http://dx.doi.org/10.3389/fgene.2015.00134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391031PMC
April 2015

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Eur J Paediatr Neurol 2015 Jan 18;19(1):64-8. Epub 2014 Oct 18.

Neuropediatrics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140017
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http://dx.doi.org/10.1016/j.ejpn.2014.10.003DOI Listing
January 2015

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Front Genet 2014 20;5:412. Epub 2014 Nov 20.

Unit of Child Neurology, Istituto Neurologico "Carlo Besta," Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238403PMC
December 2014

A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial function.

Cell Metab 2014 Nov 4;20(5):856-869. Epub 2014 Sep 4.

Laboratory of Integrative and Systems Physiology, School of Life Sciences, École Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.08.001DOI Listing
November 2014

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

Am J Ophthalmol 2014 Sep 5;158(3):628-36.e3. Epub 2014 Jun 5.

Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.ajo.2014.05.034DOI Listing
September 2014

Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses.

Biochem J 2014 Sep;462(2):359-71

*Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, 15355 Lambda Drive, San Antonio, TX 78245, U.S.A.

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http://dx.doi.org/10.1042/BJ20140291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145821PMC
September 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.

Cell Metab 2014 Jun 8;19(6):1042-9. Epub 2014 May 8.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, 20133 Milan, Italy; MRC-Mitochondrial Biology Unit, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051987PMC
June 2014

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Mol Ther 2014 May 22;22(5):901-7. Epub 2014 Jan 22.

1] Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; [2] Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain;

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http://dx.doi.org/10.1038/mt.2014.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015233PMC
May 2014

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

Mol Ther 2014 Jan 3;22(1):10-7. Epub 2013 Jul 3.

1] Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Milan, Italy [2] MRC-Mitochondrial Biology Unit, Cambridge, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S15250016163111
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http://dx.doi.org/10.1038/mt.2013.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880585PMC
January 2014

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Hum Mutat 2013 Dec 23;34(12):1619-22. Epub 2013 Sep 23.

Unit of Molecular Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1002/humu.22441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028993PMC
December 2013

Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice.

J Cereb Blood Flow Metab 2013 Oct 10;33(10):1605-11. Epub 2013 Jul 10.

1] Research Imaging Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA [2] Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA [3] Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.

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http://dx.doi.org/10.1038/jcbfm.2013.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3790931PMC
October 2013

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 2013 Oct 11;81(17):1523-30. Epub 2013 Sep 11.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; INSERM U692 (A.E.-L.), Université de Strasbourg, France; Unit of Molecular Neurogenetics (D.G., L.M., M.Z.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Service des Maladies Héréditaires du Métabolisme (M.C., M.M., S.P., B.M.deC.), Centre de Biotechnologie Cellulaire (I.R.), Unité de Cardiogénétique Moléculaire (D.B.), and Service de Neurobiologie (P.L.), Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France; and Département d'Anatomopathologie (B.L.), Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888171PMC
October 2013

Peripheral neuropathy in mitochondrial disorders.

Lancet Neurol 2013 Oct;12(10):1011-24

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70158-3DOI Listing
October 2013

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013