List of works - Gael Nicolas

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

scientific article published on 13 December 2016

A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

scientific article published on 20 March 2007

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

scientific article published on 20 August 2020

AlphaII-spectrin interacts with Tes and EVL, two actin-binding proteins located at cell contacts

scientific article

AlphaII-spectrin is an in vitro target for caspase-2, and its cleavage is regulated by calmodulin binding.

scientific article published on February 2004

Alzheimer disease: modeling an Aβ-centered biological network

scientific article published on 29 March 2016

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

scientific article

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

scientific article

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

scientific article published on 01 May 2019

Chronic hepcidin induction causes hyposideremia and alters the pattern of cellular iron accumulation in hemochromatotic mice

scientific article

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

scientific article

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder

scientific article published on 07 August 2019

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

scientific article published on 01 May 2003

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

De l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques : de nouvelles étapes

scientific article published on 28 August 2015

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

scientific article published on 21 July 2015

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

scientific article published on 6 May 2017

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

scientific article published on 28 April 2017

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

scientific article published on 26 June 2020

Differential Diagnosis of Dementia with High Levels of Cerebrospinal Fluid Tau Protein

scientific article published on 17 February 2016

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

scientific article published on 31 January 2019

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

scientific article published on 20 November 2017

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

scientific article published on 14 February 2020

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

scientific article published on 22 December 2016

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

scientific article published on 01 April 2018

Functional differences between hepcidin 1 and 2 in transgenic mice ⬇️

scientific article published on November 6, 2003

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

scientific article published on 07 June 2020

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.

scientific article

Hepcidin, a new iron regulatory peptide

scientific article published on 01 November 2002

Identification of ubiquitinated repeats in human erythroid alpha-spectrin

scientific article published on 01 May 2000

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

scientific article published on 18 December 2021

Improving Significance in Association Studies: a New Perspective for Association Studies Submitted to the Journal of Molecular Neuroscience

scientific article published on 14 April 2015

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

scientific article published on 30 May 2012

Interplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

scientific article published on 11 May 2020

Iron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia

scientific article published on 21 November 2019

Iron- and inflammation-induced hepcidin gene expression in mice is not mediated by Kupffer cells in vivo.

scientific article published in May 2005

Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6

scientific article published on 12 October 2010

Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency?

scientific article published on 11 January 2011

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

scientific article published on 15 March 2011

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders.

scientific article published on 9 March 2015

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

scientific journal article

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation

scientific article published on 01 February 2020

Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis

scientific article

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

scientific article published on 5 September 2017

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification ⬇️

scientific article published on December 19, 2012

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

scientific article

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

scientific article

Porphyrias: A 2015 update

scientific article published on July 2015

Primary brain calcification: an international study reporting novel variants and associated phenotypes

scientific article published on 28 June 2018

Properties of normal and mutant polypeptide fragments from the dimer self-association sites of human red cell spectrin

scientific article published on 01 January 1999

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

scientific article published on 24 February 2020

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

scientific article published on 23 January 2019

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

scientific article published on 01 September 2019

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

scientific article published on 25 March 2019

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

scientific article

Significant contribution of intragenic deletions to ARID1B mutation spectrum

scientific article published on 20 May 2019

Spectrin self-association site: characterization and study of β-spectrin mutations associated with hereditary elliptocytosis ⬇️

scientific article published on May 15, 1998

The AMP-activated protein kinase alpha2 catalytic subunit controls whole-body insulin sensitivity

scientific article

The AMP-activated protein kinase α2 catalytic subunit controls whole-body insulin sensitivity

article by Benoit Viollet et al published 1 January 2003 in Journal of Clinical Investigation

The microbiota shifts the iron sensing of intestinal cells.

scientific article published on 14 September 2015

The role of de novo mutations in adult-onset neurodegenerative disorders.

scientific article published on 26 November 2018

Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos.

scientific article

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

scientific article published on 06 April 2015

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

XPR1 mutations are a rare cause of primary familial brain calcification.

scientific article

[Deciphering the action mechanism of hepcidin]

scientific article published on 01 January 2005

List of works by Gael Nicolas

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

AlphaII-spectrin interacts with Tes and EVL, two actin-binding proteins located at cell contacts

AlphaII-spectrin is an in vitro target for caspase-2, and its cleavage is regulated by calmodulin binding.

Alzheimer disease: modeling an Aβ-centered biological network

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

Chronic hepcidin induction causes hyposideremia and alters the pattern of cellular iron accumulation in hemochromatotic mice

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

De l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques : de nouvelles étapes

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Differential Diagnosis of Dementia with High Levels of Cerebrospinal Fluid Tau Protein

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Functional differences between hepcidin 1 and 2 in transgenic mice ⬇️

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.

Hepcidin, a new iron regulatory peptide

Identification of ubiquitinated repeats in human erythroid alpha-spectrin

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Improving Significance in Association Studies: a New Perspective for Association Studies Submitted to the Journal of Molecular Neuroscience

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Interplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

Iron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia

Iron- and inflammation-induced hepcidin gene expression in mice is not mediated by Kupffer cells in vivo.

Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6

Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency?

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders.

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation

Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification ⬇️

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Porphyrias: A 2015 update

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Properties of normal and mutant polypeptide fragments from the dimer self-association sites of human red cell spectrin

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

Significant contribution of intragenic deletions to ARID1B mutation spectrum

Spectrin self-association site: characterization and study of β-spectrin mutations associated with hereditary elliptocytosis ⬇️

The AMP-activated protein kinase alpha2 catalytic subunit controls whole-body insulin sensitivity

The AMP-activated protein kinase α2 catalytic subunit controls whole-body insulin sensitivity

The microbiota shifts the iron sensing of intestinal cells.

The role of de novo mutations in adult-onset neurodegenerative disorders.

Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos.

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

XPR1 mutations are a rare cause of primary familial brain calcification.

[Deciphering the action mechanism of hepcidin]