Biochimie métabolique, hospices civils de Lyon - HCL, Lyon | Hôpitaux de Lyon, Lyon, France | Former INSERM U820; Laboratoire Gillet-Mérieux, GHE, Hôpitaux de Lyon, Lyon, ...

KOL Resume for MARIE THERESE VANIER  (occupant, truck, pick-up truck, injured, collision, truck, van, pickup, occupant, collision, collision car, injured, occupancy, car)


Biochimie métabolique, hospices civils de Lyon - HCL, Lyon




Laboratoire Gillet-Mérieux, Lyon University Hospitals (HCL), Lyon, France


Laboratoire Gillet-Mérieux, CBPE, Hospices Civils de Lyon, Lyon, France


Metabolomic and Metabolic Diseases, INSERM Unit 820, Lyon, France;, View further author information

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

Université de Strasbourg, Inserm, UMR_S1113, FMTS, 67000, Strasbourg, France


Institut National de la Santé et de la Recherche Médicale, Unit 820; EA4611 Lyon‐1 University, Lyon, France


Université Claude Bernard, Lyon, France


Institut National de la Santé et de la Recherche Médicale U820, Université Lyon‐1 EA4611, Faculté de Médecine Lyon‐Est, 7 Rue G. Paradin, Lyon, 69008, France


INSERM, U820, Université de Lyon, Faculté de Médecine Lyon-Est and Laboratoire de Neurobiologie Gillet-Mérieux, Hopitaux Est, Lyon, France


INSERM Unit 820, Faculté de Médicine Laennec, 7-11 Rue Guillaume Paradin, 69008, Lyon Cedex 08, France


Unit 820, Institut National de la Santé et de la Recherche Médicale and Lyon-1 University, Lyon, France,

INSERM, U682, F-67200 Strasbourg, Université de Strasbourg, Faculté de Médecine, F-67081 and, CNRS, LSMBO, F-67200 Strasbourg, France

Institut National de la Sante et de la Recherche Medical, Lyon, FRANCE


Hospices Civils de Lyon, Laboratoire Gillet-Mérieux, Hôpitaux Est, 69500 Bron, France


INSERM Unit 820, 7 rue G. Paradin, Laennec Medical School, Lyon 69372, Cedex 08, France

Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York (MCM, KD, GS, SUW)


Institut National de la Santé et de la Recherche Médicale, Unit 820; Laënnec Medical School, Lyon 1 University, Lyon, France


Université de Lyon, Lyon, F‐69003, France, Université Lyon 1, Faculté de Médecine RTH Laënnec, Lyon F‐69372, France


Laboratoire Gillet-Mérieux, Bat 3B, Centre Hospitalier Lyon-Sud, 69310, Pierre-Bénite, France

Inserm U189, Faculté de Médecine Lyon‐Sud, Oullins Cedex


INSERM U189, Lyon‐Sud Medical School, and Laboratoire Fondation Gillet Mérieux, Lyon‐Sud Hospital, Pierre‐Bénite, France


Center for Advanced Biotechnology and Medicine, Piscataway, NJ 08854; Departments of Pharmacology and Pediatrics, University of Medicine and Dentistry of New Jersey, Piscataway, NJ 08854; Institut National de la Santé et de la Recherche Médicale, Unit 189, Lyon-Sud Medical School, 69921 Oullins, France; Fondation Gillet-Merieux, Lyon-Sud Hospital, 69495 Pierre-Benite, France; Research Service, Veterans Affairs Medical Center, East Orange, NJ 07018; Department of Medicine, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ 07103; and Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461

Fondation Gillet‐Mérieux, Lyon‐Sud, France

Institut National de la Sante et de la Recherche Médicale U189, Faculté de Médecine Lyon‐Sud, Oullins


Prominent publications by MARIE THERESE VANIER

KOL Index score: 12193

Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. ...

Known for Adult Form |  Niemann–pick Disease Type |  Psychiatric Disorders |  Age Onset |  Npc2 Gene
KOL Index score: 12052

The primary genetic defect underlying Krabbe disease or globoid cell leukodystrophy is considered to be a deficiency of galactosylceramide-beta-galactosidase. In the present study of the brains from 18 patients who had died from Krabbe disease at 7-37 months of age, the concentration of galactosylceramide of cerebral and cerebellar white matter was severely reduced to 10-20% of that in age-matched controls. The lowest values were found in the most long-standing cases. Lactosylceramide ...

Known for Krabbe Disease |  Galactosylsphingosine Psychosine |  Cerebral Cortex |  White Matter |  Normal Human Brains
KOL Index score: 11854

The fatty acid compositions of choline (CPG), ethanolamine (EPG), serine (SPG) and inositol (IPG) phosphoglycerides were determined in the cerebrum of 11 foetuses, and in the cerebral cortex and the white matter of frontal lobe of 21 infants.The phosphogylcerides were separated by thin-layer chromatography and their fatty acid compositions determined by gas-liquid chromatography.In cerebral cortex, the largest changes occurred during prenatal development The concentration of 16:0 and ...

Known for Fatty Acid |  Human Nervous |  Infant Brain |  Cerebral Cortex |  Gas Chromatography
KOL Index score: 11734

Abstract— The variation with age of the fatty acid composition of the major lipids in human brain myelin was compared with that of cerebral white matter from the same region. The myelin was isolated from the semiovale centre of the cerebrum of 27 subjects neonatal to old aged. The phospholipid, cholesterol and galactolipid concentrations were determined in all the samples, as were the proportions of the major phospholipid classes. The proportions of cholesterol and especially of the ...

Known for Fatty Acid |  Brain Myelin |  Cerebral White Matter |  Lipid Metabolism |  Composition Human
KOL Index score: 11304

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are limited. We report findings from a prospective open-label study in the French paediatric NP-C cohort.

METHODS: Data on all paediatric NP-C patients treated with miglustat in France between October 2006 and December 2010 were compiled. ...

Known for Miglustat Therapy |  Disease Type |  Neurological Manifestations |  Onset Patients |  Early Infantile
KOL Index score: 11297

While transplanted neural stem cells (NSCs) have been shown to hold promise for cell replacement in models of a number of neurological disorders, these examples have typically been under conditions where the host cells become dysfunctional due to a cell autonomous etiology, i.e. a 'sick' cell within a relatively supportive environment. It has long been held that cell replacement in a toxic milieu would not likely be possible; donor cells would succumb in much the same way as endogenous ...

Known for Stem Cell |  Mouse Model |  Twi Mice |  Mutant Strains Microscopy |  Leukodystrophy Gld
KOL Index score: 10975

BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma.

METHODOLOGY: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i.e. ...

Known for Pick Type |  Amniotic Fluid |  Patients Sphingolipidoses |  Fabry Disease |  Gm2 Gangliosidosis
KOL Index score: 10751

To obtain more information of the functional domains of the NPC1 protein, the mutational spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from 30 unrelated patients with Niemann-Pick C1 disease. Nine of them were characterized by mild alterations of cellular cholesterol transport (the "variant" biochemical phenotype). The mutations showed a wide distribution to nearly all NPC1 domains, with a cluster (11/32) in a conserved NPC1 cysteine-rich luminal ...

Known for Npc1 Mutations |  Functional Significance |  Sensing Domain |  Niemannpick Disease |  Rich Luminal
KOL Index score: 10717

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings.

METHODS: The NPC Registry is a prospective observational cohort study. Participating sites are encouraged to ...

Known for Disease Registry |  Neurological Onset |  Patient Characteristics |  Premature Death |  Progressive Neurodegeneration
KOL Index score: 10686

MLN64 is a transmembrane protein that shares homology with the cholesterol binding domain (START domain) of the steroidogenic acute regulatory protein. The steroidogenic acute regulatory protein is located in the inner membrane of mitochondria, where it facilitates cholesterol import into the mitochondria. Crystallographic analysis showed that the START domain of MLN64 is a cholesterol-binding domain. The present work was undertaken to determine which step of the intracellular ...

Known for Binding Protein |  Late Endosomes |  Mln64 Cholesterol |  Start Domain |  Steroidogenic Acute
KOL Index score: 10618

The sphingolipids galactosylceramide and sulfatide are important for the formation and maintenance of myelin. Transgenic mice overexpressing the galactosylceramide synthesizing enzyme UDP-galactose:ceramide galactosyltransferase in oligodendrocytes display an up to four-fold increase in UDP-galactose:ceramide galactosyltransferase activity, which correlates with an increase in its products monogalactosyl diglyceride and non-hydroxy fatty acid-containing galactosylceramide. Surprisingly, ...

Known for Transgenic Mice |  Ceramide Galactosyltransferase |  Northern Blotting |  Electron Transmission Motor |  Udp Galactose
KOL Index score: 10539

We have identified a point mutation in Npc1 that creates a novel mouse model (Npc1(nmf164)) of Niemann-Pick type C1 (NPC) disease: a single nucleotide change (A to G at cDNA bp 3163) that results in an aspartate to glycine change at position 1005 (D1005G). This change is in the cysteine-rich luminal loop of the NPC1 protein and is highly similar to commonly occurring human mutations. Genetic and molecular biological analyses, including sequencing the Npc1(spm) allele and identifying a ...

Known for Mouse Model |  Pick Type |  Npc Disease |  Point Mutation |  Intracellular Signaling Peptides
KOL Index score: 10432

BACKGROUND AND AIMS: Self-renewal and differentiation of intestinal epithelium is a tightly regulated process, whose perturbations are implicated in human colorectal tumourigenesis. The insulin/insulin-like growth factor (IGF) signalling pathway may play an important role in intestinal epithelium homeostasis. Insulin receptor substrate 2 (IRS2) is a poorly characterised component in this pathway.

METHODS: Using complementary in vitro and in vivo human and murine models, expression (mRNA ...

Known for Factor Cdx2 |  Insulin Receptor Substrate |  Human Colorectal |  Intestinal Epithelium |  Silico Analysis
KOL Index score: 10317

In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups--NPC1, comprising > or =95% of the families, and NPC2--has been demonstrated. Mutations in the NPC1 gene have now been well characterized. HE1 was recently identified as the gene underlying the very rare NPC2. Here we report the first comprehensive study of eight unrelated families with NPC2, originating from France, Algeria, Italy, Germany, the Czech Republic, and Turkey. These cases represent ...

Known for Pick Disease |  Mutational Analysis |  Preschool Codon |  Mutations Npc1 Gene |  Genotype Phenotype Correlations


MARIE THERESE VANIER: Influence Statistics

Sample of concepts for which MARIE THERESE VANIER is among the top experts in the world.
Concept World rank
lipid patterns organs #1
smpd1 gene studies #1
complete ophthalmoplegia diagnosis #1
isoforms 95 kda #1
pancreas supernatant proteins #1
major difficulties attempts #1
c1301ct #1
gld twiop mouse #1
unusual vertebral fractures #1
npc2 gene #1
trs mice #1
deoxynojirimycin adolescent #1
dysarthria 759 #1
mutation e20x #1
neurological onset diagnosis #1
saposinb deficiency #1
npc2has #1
natural chronic asmd #1
npc fibroblasts secretion #1
equivalent storage reduction #1
he1 mutations #1
onset cerebellar signs #1
ldl imipramine #1
26 npc1 patients #1
he1 gene #1
organs result #1
homeostasis adult intestine #1
demyelination twiop mice #1
slight facial dysmorphy #1
c1274ca #1
specific key element #1
analysis lysosomal sphingomyelinase #1
30yearold sister #1
onset psychiatric manifestations #1
niemann #1
storage cell type #1
npc molecular mutation #1
sphingomyelins choline phosphoglycerides #1
twiop mice demyelination #1
clinically identical forms #1
cases hyper intensities #1
niemannpick patients #1
vitro acylcoa #1
metachromatic microscopy electron #1
sphingomyelinase rabbit #1
patients neurovisceral involvement #1
physicians data entries #1
npc strategies #1
pc47f #1
immunoadsorption techniques specificity #1

Key People For Pick Disease

Top KOLs in the world
pick disease globoid cell mouse model
Roscoe O Brady
fabry disease enzyme replacement therapy bipolar disorder
Peter G Pentchev
gaucher disease niemann pick cholesterol esterification
Marc C Patterson
pick disease inborn errors npc registry
Milan Elleder
fabry disease lipid histochemistry sco2 gene
Daniel S Ory
gaucher disease pick type cholesterol storage


Concepts for whichMARIE THERESE VANIERhas direct influence:Pick disease,  Krabbe disease,  Disease type,  Niemann pick,  Niemannpick disease type,  Chemical pathology,  Miglustat therapy,  Npc1 mutations.


Concepts related to the work of other authors for whichfor which MARIE THERESE VANIER has influence:Krabbe disease,  Pick type,  Gene therapy,  Lysosomal storage,  Mouse model,  Central nervous,  Plasma membrane.



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Biochimie métabolique, hospices civils de Lyon - HCL, Lyon | Hôpitaux de Lyon, Lyon, France | Former INSERM U820; Laboratoire Gillet-Mérieux, GHE, Hôpitaux de Lyon, Lyon, France | INSERM, Lyon, France | INSERM

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