Publications by authors named "Paola Goffrini"

36Publications

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.

Hum Mol Genet 2020 Nov 24. Epub 2020 Nov 24.

Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.

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http://dx.doi.org/10.1093/hmg/ddaa244DOI Listing
November 2020

Guidelines and recommendations on yeast cell death nomenclature.

Microb Cell 2018 Jan 1;5(1):4-31. Epub 2018 Jan 1.

Institute of Molecular Biosciences, NAWI Graz, University of Graz, Graz, Austria.

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http://dx.doi.org/10.15698/mic2018.01.607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772036PMC
January 2018

Dominance of yeast aac2 and aac2 mutations, equivalent to pathological mutations in ant1, is due to gain of function.

Biochem Biophys Res Commun 2017 11 22;493(2):909-913. Epub 2017 Sep 22.

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, 43124 Parma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2017.09.122DOI Listing
November 2017

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Hum Mutat 2016 09 11;37(9):898-903. Epub 2016 Jul 11.

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

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http://dx.doi.org/10.1002/humu.23033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108486PMC
September 2016

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy.

Mitochondrion 2015 Nov 8;25:38-48. Epub 2015 Oct 8.

Department of Life Sciences, University of Parma, Viale delle Scienze 11/A, 43124 Parma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.10.002DOI Listing
November 2015

DNA polymerase γ and disease: what we have learned from yeast.

Front Genet 2015 17;6:106. Epub 2015 Mar 17.

Department of Life Sciences, University of Parma Parma, Italy.

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http://dx.doi.org/10.3389/fgene.2015.00106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362329PMC
April 2015

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.

Biochim Biophys Acta 2014 Feb 8;1842(2):269-74. Epub 2013 Dec 8.

Department of Medical Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2013.12.002DOI Listing
February 2014

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

Hum Mol Genet 2013 Feb 21;22(4):804-15. Epub 2012 Nov 21.

Department of Life Sciences, University of Parma, Parma 43124, Italy.

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http://dx.doi.org/10.1093/hmg/dds487DOI Listing
February 2013

FLO11 expression and lipid biosynthesis are required for air-liquid biofilm formation in a Saccharomyces cerevisiae flor strain.

FEMS Yeast Res 2012 Nov 6;12(7):864-6. Epub 2012 Aug 6.

Dipartimento di Agraria, Università di Sassari, Sassari, Italy.

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http://dx.doi.org/10.1111/j.1567-1364.2012.00831.xDOI Listing
November 2012

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Mol Genet Metab 2010 Aug 24;100(4):345-8. Epub 2010 Apr 24.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921000174
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http://dx.doi.org/10.1016/j.ymgme.2010.04.010DOI Listing
August 2010

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Nat Genet 2009 Jun 24;41(6):654-6. Epub 2009 May 24.

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

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http://dx.doi.org/10.1038/ng.378DOI Listing
June 2009

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor.

Hum Mol Genet 2009 May 4;18(10):1860-8. Epub 2009 Mar 4.

Department of Genetics, Biology of Microorganisms, Anthropology and Evolution, University of Parma, Parma, Italy.

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http://dx.doi.org/10.1093/hmg/ddp102DOI Listing
May 2009

Functional analysis of the Kluyveromyces lactis PDR1 gene.

FEMS Yeast Res 2009 Mar;9(2):321-7

Department of Microbiology and Virology, Comenius University in Bratislava, Bratislava, Slovak Republic.

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http://dx.doi.org/10.1111/j.1567-1364.2008.00479.xDOI Listing
March 2009

Oxygen is required to restore flor strain viability and lipid biosynthesis under fermentative conditions.

FEMS Yeast Res 2009 Mar;9(2):217-25

Dipartimento di Scienze Ambientali Agrarie e Biotecnologie Agroalimentari, Sezione di Microbiologia Generale ed Applicata, Università degli Studi di Sassari, Sassari, Italy.

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https://academic.oup.com/femsyr/article-lookup/doi/10.1111/j
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http://dx.doi.org/10.1111/j.1567-1364.2008.00472.xDOI Listing
March 2009

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Hum Mol Genet 2007 May 2;16(10):1241-52. Epub 2007 Apr 2.

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

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http://academic.oup.com/hmg/article/16/10/1241/628176/Impair
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http://dx.doi.org/10.1093/hmg/ddm072DOI Listing
May 2007

A respiratory-deficient mutation associated with high salt sensitivity in Kluyveromyces lactis.

Authors:
Paola Goffrini

FEMS Yeast Res 2007 Mar;7(2):180-7

Department of Genetics, Biology of Microorganisms, Anthropology, Evolution, University of Parma, Parco Area delle Scienze, Parma, Italy.

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https://academic.oup.com/femsyr/article-lookup/doi/10.1111/j
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http://dx.doi.org/10.1111/j.1567-1364.2006.00148.xDOI Listing
March 2007

Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1.

FEMS Yeast Res 2006 Dec;6(8):1235-42

Dipartimento di Genetica Antropologia Evoluzione, University of Parma, Parma, Italy.

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http://dx.doi.org/10.1111/j.1567-1364.2006.00107.xDOI Listing
December 2006

Alterations of O-glycosylation, cell wall, and mitochondrial metabolism in Kluyveromyces lactis cells defective in KlPmr1p, the Golgi Ca(2+)-ATPase.

Biochem Biophys Res Commun 2004 Jun;318(4):1031-8

Department of Developmental and Cell Biology, University of Rome La Sapienza, Piazza Aldo Moro 5, 00185 Rome, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2004.04.127DOI Listing
June 2004

Respiration-dependent utilization of sugars in yeasts: a determinant role for sugar transporters.

J Bacteriol 2002 Jan;184(2):427-32

Istituto di Genetica, Università degli Studi di Parma, Parma, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC139568PMC
http://dx.doi.org/10.1128/jb.184.2.427-432.2002DOI Listing
January 2002