Publications by authors named "Valerie Serre"

53Publications

NDUFS6 related Leigh syndrome: a case report and review of the literature.

J Hum Genet 2019 Jul 4;64(7):637-645. Epub 2019 Apr 4.

Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, Nice, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0594-4DOI Listing
July 2019

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.

Biochim Biophys Acta Mol Basis Dis 2018 Apr 9;1864(4 Pt A):997-1009. Epub 2018 Jan 9.

Université Paris Diderot, Sorbonne Paris Cité, Institut Jacques Monod, CNRS UMR 7592, 75013 Paris, France; Université Paris Diderot, Sorbonne Paris Cité, UFR Sciences du Vivant, 75013 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2018.01.010DOI Listing
April 2018

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

PLoS Genet 2014 Nov 13;10(11):e1004711. Epub 2014 Nov 13.

INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230727PMC
November 2014

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Neurobiol Aging 2014 Dec 24;35(12):2884.e1-2884.e4. Epub 2014 Jul 24.

IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.022DOI Listing
December 2014

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.

J Clin Endocrinol Metab 2013 Nov 13;98(11):4279-84. Epub 2013 Sep 13.

MD, Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-2740DOI Listing
November 2013

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.

Biochim Biophys Acta 2013 Aug 18;1832(8):1304-12. Epub 2013 Apr 18.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine and INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2013.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787750PMC
August 2013

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

Biochim Biophys Acta 2013 Jun 13;1830(6):3719-33. Epub 2013 Mar 13.

Départment de Génétique, Fondation Imagine, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbagen.2013.02.025DOI Listing
June 2013

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

Toward genotype phenotype correlations in GFM1 mutations.

Mitochondrion 2012 Mar 1;12(2):242-7. Epub 2011 Oct 1.

Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2011.09.007DOI Listing
March 2012

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Hum Mutat 2011 Nov 14;32(11):1225-31. Epub 2011 Sep 14.

Department of Genetics, INSERM U781, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21562DOI Listing
November 2011

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Mitochondrion 2010 Jun 1;10(4):335-41. Epub 2010 Mar 1.

Université Paris Descartes, Hôpital Necker-Enfants Malades et Inserm U781 et U797, Départements de Génétique, de Radiologie pédiatrique, des Maladies Métaboliques et de Biochimie B, Paris F-75015, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2010.02.006DOI Listing
June 2010

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

Am J Med Genet A 2009 Jun;149A(6):1296-301

INSERM U781, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32880DOI Listing
June 2009

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Am J Hum Genet 2008 Mar;82(3):623-30

INSERM U781 and Department of Genetics, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2007.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427298PMC
March 2008

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Nat Genet 2008 Mar 10;40(3):284-6. Epub 2008 Feb 10.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2007.66DOI Listing
March 2008

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Ann Neurol 2007 Dec;62(6):579-87

Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21207DOI Listing
December 2007

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

Mol Genet Metab 2007 Sep-Oct;92(1-2):104-8. Epub 2007 Jun 28.

Service de Génétique and INSERM U781, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2007.05.010DOI Listing
November 2007

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Nat Genet 2007 Jun 7;39(6):776-80. Epub 2007 May 7.

Institut national de la santé et de la recherche médicale U781 and Service de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng2040
Publisher Site
http://dx.doi.org/10.1038/ng2040DOI Listing
June 2007

[Adaptation of organisms to extreme conditions of deep-sea hydrothermal vents].

C R Biol 2006 Jul 29;329(7):527-40. Epub 2006 Mar 29.

Laboratoire de biochimie des signaux régulateurs cellulaires et moléculaires, FRE 2621, CNRS, université Pierre-et-Marie-Curie (Paris-6), 96, bd Raspail, 75006 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.crvi.2006.02.001DOI Listing
July 2006

Efficient synthesis of fluorothiosparfosic acid analogues with potential antitumoral activity.

Bioorg Med Chem 2005 Aug;13(16):4921-8

Laboratoire de Chimie Moléculaire et Thio-organique (UMR CNRS 6507), ENSICAEN-Université de Caen, 6 Boulevard Maréchal Juin, F-14050 Caen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bmc.2005.05.026DOI Listing
August 2005

Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD.

J Biol Chem 2005 Jul 12;280(27):25611-20. Epub 2005 May 12.

Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M504581200DOI Listing
July 2005

In vivo protein markers of human peritoneal mesothelial cells: do they differ according to their anatomical sites?

Eur J Surg Suppl 2003 Jul(588):40-5

Laboratoire Cytosquelette et Développement, CNRS UMR 7000, Faculté de Médecine Pitié-Salpêtrière, Paris, France.

View Article

Download full-text PDF

Source
July 2003

Integrated allosteric regulation in the S. cerevisiae carbamylphosphate synthetase - aspartate transcarbamylase multifunctional protein.

BMC Biochem 2004 May 5;5. Epub 2004 May 5.

Laboratoire de Biochimie des Signaux Régulateurs Cellulaires et Moléculaires, FRE 2621 CNRS and Université Pierre et Marie Curie, 96 Bd Raspail 75006 Paris, France.

View Article

Download full-text PDF

Source
http://www.biomedcentral.com/1471-2091/5/6
Publisher Site
http://dx.doi.org/10.1186/1471-2091-5-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC434488PMC
May 2004

Design, synthesis and activity of bisubstrate, transition-state analogues and competitive inhibitors of aspartate transcarbamylase.

Eur J Med Chem 2004 Apr;39(4):333-44

INCM FR CNRS 1742, UMR CNRS-UHP Nancy I 7565, Université Henri Poincaré, institut nanceien de chimie moléculaire, laboratoire de chimie organique biomoléculaire, Vandoeuvre-lès-Nancy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmech.2004.01.006DOI Listing
April 2004