S. Bannwarth

发表

HIV-1 TAR RNA: the target of molecular interactions between the virus and its host.

A. Gatignol, S. Bannwarth, 2005, Current HIV research.

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

C. Richelme, E. Ostergaard, A. Chaussenot, 2010, Journal of Medical Genetics.

Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.

J. Kolesar, B. Kaufman, J. Ricci, 2016, Mitochondrion.

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

E. Génin, P. Yu-Wai-Man, J. Ricci, 2015, EMBO molecular medicine.

Two Dimerization Domains in the Trans-activation Response RNA-binding Protein (TRBP) Individually Reverse the Protein Kinase R Inhibition of HIV-1 Long Terminal Repeat Expression*

D. Purcell, R. Benarous, E. Meurs, 2001, The Journal of Biological Chemistry.

Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects

V. Procaccio, S. Bannwarth, V. Paquis-Flucklinger, 2005, Human mutation.

Cloning and Expression of cDNA for a Human Gal(β1‐3)GalNAc α2,3‐Sialyltransferase from the CEM T‐Cell Line

P. Delannoy, S. Bannwarth, V. Giordanengo, 1997 .

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

E. Génin, D. Bohl, J. Ricci, 2019, Acta Neuropathologica.

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324.

J. Pouget, A. Chaussenot, S. Sacconi, 2015, Journal of the Neurological Sciences.

Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.

V. Procaccio, B. Vialettes, C. Jardel, 2020, Annales d'endocrinologie.

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

TRBP Control of PACT-Induced Phosphorylation of Protein Kinase R Is Reversed by Stress

R. Braun, E. Meurs, A. Gatignol, 2008, Molecular and Cellular Biology.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

P. Yu-Wai-Man, A. Chaussenot, S. Bannwarth, 2017, Human molecular genetics.

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

A. Chaussenot, S. Bannwarth, A. Cano, 2011, Mitochondrion.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

A. Rötig, I. Durand-zaleski, C. Florentz, 2013, Journal of Medical Genetics.

Additive activity between the trans-activation response RNA-binding protein, TRBP2, and cyclin T1 on HIV type 1 expression and viral production in murine cells.

R. Benarous, J. Hiscott, A. Gatignol, 2003, AIDS research and human retroviruses.

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

E. Génin, J. Ricci, B. Udd, 2018, Neurobiology of Disease.

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

A. Brice, P. Yu-Wai-Man, J. Pouget, 2015, Brain : a journal of neurology.

Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance

B. Kaufman, A. Singhi, Yingze Zhang, 2018, bioRxiv.

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2018, Genetics in Medicine.

ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data

S. Bottini, S. Bannwarth, V. Paquis-Flucklinger, 2022, Bioinform..

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene

B. Vialettes, S. Bannwarth, R. Valéro, 2008, Diabetic medicine : a journal of the British Diabetic Association.

CHCHD10-Related Disorders

A. Chaussenot, S. Bannwarth, C. Rouzier, 2015 .

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

A. Chaussenot, S. Sacconi, S. Bannwarth, 2018, Neurology: Genetics.

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

A. Chaussenot, S. Bannwarth, C. Rouzier, 2022, European journal of medical genetics.

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

A. Chaussenot, S. Bannwarth, B. Chabrol, 2019, Molecular genetics and metabolism reports.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

A. Chaussenot, S. Bannwarth, B. Chabrol, 2017, Molecular genetics and metabolism.

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9‐deficient mild myopathy

C. Richelme, A. Chaussenot, S. Sacconi, 2016, Muscle & nerve.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

A. Chaussenot, S. Bannwarth, A. M. Paula, 2016, Neuromuscular Disorders.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

E. Génin, A. Brice, P. Yu-Wai-Man, 2016, Brain : a journal of neurology.

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1‐related disorders

H. Dollfus, A. Chaussenot, M. Nicolino, 2015, Clinical genetics.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

A. Munnich, M. Clanet, D. Wallace, 2007, European Journal of Human Genetics.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

A. Munnich, M. Clanet, D. Wallace, 2006, European Journal of Human Genetics.

A novel homozygous MMP2 mutation in a family with Winchester syndrome

A Coussement, N. Philip, S. Bannwarth, 2006, Clinical genetics.

Small Interfering RNAs against the TAR RNA Binding Protein, TRBP, a Dicer Cofactor, Inhibit Human Immunodeficiency Virus Type 1 Long Terminal Repeat Expression and Viral Production

D. Purcell, A. Gatignol, C. Ong, 2007, Journal of Virology.

Expression of LSLCL, a new C-type lectin, is closely restricted, in bone marrow, to immature neutrophils.

S. Bannwarth, V. Giordanengo, C. Perrin, 2001, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

A. Chaussenot, S. Bannwarth, C. Rouzier, 2018, BMC Medical Genetics.

SLP2/prohibitins aggregates and instability of the PHB complex are key elements in CHCHD10S59L-related disease

S. Bannwarth, F. Lespinasse, S. Lacas‐Gervais, 2021, bioRxiv.

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases

S. Bottini, S. Bannwarth, V. Paquis-Fluckinger, 2021, International journal of molecular sciences.

Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives

Justine Labory, Morgane Fierville, Samira Ait-El-Mkadem, 2020, Frontiers in Molecular Biosciences.

The TAR RNA-binding Protein, TRBP, Stimulates the Expression of TAR-containing RNAs in Vitro and in VivoIndependently of Its Ability to Inhibit the dsRNA-dependent Kinase PKR*

E. Meurs, A. Gatignol, S. Bannwarth, 2003, The Journal of Biological Chemistry.

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

J. Pouget, V. Procaccio, A. Chaussenot, 2012, Brain : a journal of neurology.

The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage.

A. Rötig, J. Ricci, S. Bannwarth, 2012, Mitochondrion.

Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

J. Pouget, M. Soriani, A. Chaussenot, 2020, Human mutation.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

S. A. E. Mkadem, A. Chaussenot, B. Vialettes, 2011, Annals of neurology.

Characterization of TRBP1 and TRBP2

K. Jeang, A. Gatignol, M. Duarte, 2000, Journal of Biomedical Science.

Characterization of TRBP1 and TRBP2. Stable stem-loop structure at the 5' end of TRBP2 mRNA resembles HIV-1 TAR and is not found in its processed pseudogene.

K. Jeang, A. Gatignol, M. Duarte, 2000, Journal of biomedical science.

Multiomics study of CHCHD10S59L-related disease reveals energy metabolism downregulation: OXPHOS and β-oxidation deficiencies associated with lipids alterations

J. Ricci, D. Debayle, S. Bannwarth, 2023, bioRxiv.

TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro

G. Dorn, J. Taylor, S. Bannwarth, 2021, Nature Communications.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

CHCHD10 mutations are not a common cause of SMN1‐negative type III/IV spinal motor atrophy

E. Génin, J. Pouget, M. Soriani, 2015, Annals of neurology.

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Mutations Are Not a Common Cause of SMN 1-Negative Type III / IV Spinal Motor Atrophy

E. Génin, J. Pouget, A. Chaussenot, 2015 .

Reply : CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply : Is CHCHD 10 Pro 34 Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

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

A. Brice, J. Pouget, A. Camuzat, 2014, Neurobiology of Aging.

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply : Are CHCHD 10 mutations indeed associated with familial amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014 .

Astrocyte infection by HIV-1: mechanisms of restricted virus replication, and role in the pathogenesis of HIV-1-associated dementia.

D. Purcell, P. Gorry, A. Gatignol, 2003, Current HIV research.

Organization of the Human tarbp2 Gene Reveals Two Promoters That Are Repressed in an Astrocytic Cell Line*

D. Purcell, J. Hiscott, A. Gatignol, 2001, The Journal of Biological Chemistry.

Cell-specific regulation of TRBP1 promoter by NF-Y transcription factor in lymphocytes and astrocytes.

J. Hiscott, A. Gatignol, A. LeBlanc, 2006, Journal of molecular biology.

Low TRBP Levels Support an Innate Human Immunodeficiency Virus Type 1 Resistance in Astrocytes by Enhancing the PKR Antiviral Response

J. Howard, D. Purcell, P. Gorry, 2005, Journal of Virology.

Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease

V. Procaccio, S. Bannwarth, V. Paquis-Flucklinger, 2006, Nature Protocols.

Molecular Cloning of a New Secreted Sulfated Mucin-like Protein With a C-type Lectin Domain That Is Expressed in Lymphoblastic Cells*

S. Bannwarth, V. Giordanengo, J. Lesimple, 1998, The Journal of Biological Chemistry.

Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene

F. Giuliano, B. Delobel, B. Vialettes, 2005, Human mutation.

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

C. Richelme, J. Pouget, A. Chaussenot, 2013, European Journal of Human Genetics.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

V. Procaccio, P. Potluri, S. Bannwarth, 2009, Mitochondrion.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

N. Romero, P. Laforêt, A. Béhin, 2018, Revue neurologique.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

D. Wallace, J. Gargus, P. Calvas, 2008, Mitochondrion.

Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.

V. Procaccio, S. Bannwarth, V. Paquis-Flucklinger, 2009, Methods in molecular biology.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

L. Servais, G. Siciliano, H. Lochmüller, 2021, Journal of neuromuscular diseases.

Altered sialylation of alveolar macrophages in HIV‐1‐infected individuals

S. Bannwarth, V. Giordanengo, C. Perrin, 1997, Clinical and experimental immunology.

A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness

B. Vialettes, S. Bannwarth, R. Valéro, 2011, Diabetes Care.

CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.

T. Wai, S. Bannwarth, F. Lespinasse, 2022, Brain : a journal of neurology.

The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage.

A. Rötig, J. Ricci, S. Bannwarth, 2012, Mitochondrion.

Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes

D. Wallace, V. Procaccio, Richard Jimenez, 2012, Molecular Diagnosis & Therapy.

Letter to the Editor Reply: Chchd10 Mutations in Italian Patients with Sporadic Amyotrophic Lateral Sclerosis

J. Pouget, I. Le Ber, A. Chaussenot, 2022 .