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Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Birth defects research

Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T.
PMID: 34491000
Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 07.

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms are rarely documented. They...

Cite
Chartier S, Boutaud L, Le Guillou E, et al. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Res. 2021;113(18):1324-1332doi: 10.1002/bdr2.1950.
Chartier, S., Boutaud, L., Le Guillou, E., Alby, C., Billon, C., Millischer, A. E., Caillaud, C., Galmiche, L., Mechler, C., Sonigo, P., Boddaert, N., Lyonnet, S., Rondeau, S., Bole-Feysot, C., Masson, C., Ville, Y., Roth, P., Desguerre, I., Encha-Razavi, F., & Attie-Bitach, T. (2021). Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth defects research, 113(18), 1324-1332. https://doi.org/10.1002/bdr2.1950
Chartier, Suzanne, et al. "Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation." Birth defects research vol. 113,18 (2021): 1324-1332. doi: https://doi.org/10.1002/bdr2.1950
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 07. PMID: 34491000.
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Anionic Lipids: A Pipeline Connecting Key Players of Plant Cell Division.

Frontiers in plant science

Caillaud MC.
PMID: 31110508
Front Plant Sci. 2019 Apr 12;10:419. doi: 10.3389/fpls.2019.00419. eCollection 2019.

How cells position their division plane is a critical component of cell division. Indeed, it defines whether the two daughter cells divide symmetrically (with equal volumes) or not, and as such is critical for cell differentiation and lineage specification...

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Caillaud MC. Anionic Lipids: A Pipeline Connecting Key Players of Plant Cell Division. Front Plant Sci. 2019;10:419doi: 10.3389/fpls.2019.00419.
Caillaud, M. C. (2019). Anionic Lipids: A Pipeline Connecting Key Players of Plant Cell Division. Frontiers in plant science, 10419. https://doi.org/10.3389/fpls.2019.00419
Caillaud, Marie-Cécile. "Anionic Lipids: A Pipeline Connecting Key Players of Plant Cell Division." Frontiers in plant science vol. 10 (2019): 419. doi: https://doi.org/10.3389/fpls.2019.00419
Caillaud MC. Anionic Lipids: A Pipeline Connecting Key Players of Plant Cell Division. Front Plant Sci. 2019 Apr 12;10:419. doi: 10.3389/fpls.2019.00419. eCollection 2019. PMID: 31110508; PMCID: PMC6499208.
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Shotgun proteomics datasets acquired on .

Data in brief

Gouveia D, Cogne Y, Gaillard JC, Almunia C, Pible O, François A, Degli-Esposti D, Geffard O, Chaumot A, Armengaud J.
PMID: 31687451
Data Brief. 2019 Oct 12;27:104650. doi: 10.1016/j.dib.2019.104650. eCollection 2019 Dec.

This data article associated with the manuscript "Comparative proteomics in the wild: accounting for intrapopulation variability improves describing proteome response in a Gammarus pulex field population exposed to cadmium" refers to the shotgun proteomics analysis performed on 40

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Gouveia D, Cogne Y, Gaillard JC, et al. Shotgun proteomics datasets acquired on . Data Brief. 2019;27:104650doi: 10.1016/j.dib.2019.104650.
Gouveia, D., Cogne, Y., Gaillard, J. C., Almunia, C., Pible, O., François, A., Degli-Esposti, D., Geffard, O., Chaumot, A., & Armengaud, J. (2019). Shotgun proteomics datasets acquired on . Data in brief, 27104650. https://doi.org/10.1016/j.dib.2019.104650
Gouveia, Duarte, et al. "Shotgun proteomics datasets acquired on ." Data in brief vol. 27 (2019): 104650. doi: https://doi.org/10.1016/j.dib.2019.104650
Gouveia D, Cogne Y, Gaillard JC, Almunia C, Pible O, François A, Degli-Esposti D, Geffard O, Chaumot A, Armengaud J. Shotgun proteomics datasets acquired on . Data Brief. 2019 Oct 12;27:104650. doi: 10.1016/j.dib.2019.104650. eCollection 2019 Dec. PMID: 31687451; PMCID: PMC6820120.
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Titanium Dioxide Nanoparticles Alter the Cellular Phosphoproteome in A549 Cells.

Nanomaterials (Basel, Switzerland)

Biola-Clier M, Gaillard JC, Rabilloud T, Armengaud J, Carriere M.
PMID: 31973118
Nanomaterials (Basel). 2020 Jan 21;10(2). doi: 10.3390/nano10020185.

TiO

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Biola-Clier M, Gaillard JC, Rabilloud T, et al. Titanium Dioxide Nanoparticles Alter the Cellular Phosphoproteome in A549 Cells. Nanomaterials (Basel). 2020;10(2)doi: 10.3390/nano10020185.
Biola-Clier, M., Gaillard, J. C., Rabilloud, T., Armengaud, J., & Carriere, M. (2020). Titanium Dioxide Nanoparticles Alter the Cellular Phosphoproteome in A549 Cells. Nanomaterials (Basel, Switzerland), 10(2), . https://doi.org/10.3390/nano10020185
Biola-Clier, Mathilde, et al. "Titanium Dioxide Nanoparticles Alter the Cellular Phosphoproteome in A549 Cells." Nanomaterials (Basel, Switzerland) vol. 10,2 (2020). doi: https://doi.org/10.3390/nano10020185
Biola-Clier M, Gaillard JC, Rabilloud T, Armengaud J, Carriere M. Titanium Dioxide Nanoparticles Alter the Cellular Phosphoproteome in A549 Cells. Nanomaterials (Basel). 2020 Jan 21;10(2). doi: 10.3390/nano10020185. PMID: 31973118; PMCID: PMC7074930.
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Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Birth defects research

Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T.
PMID: 34491000
Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 07.

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms are rarely documented. They...

Cite
Chartier S, Boutaud L, Le Guillou E, et al. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Res. 2021;113(18):1324-1332doi: 10.1002/bdr2.1950.
Chartier, S., Boutaud, L., Le Guillou, E., Alby, C., Billon, C., Millischer, A. E., Caillaud, C., Galmiche, L., Mechler, C., Sonigo, P., Boddaert, N., Lyonnet, S., Rondeau, S., Bole-Feysot, C., Masson, C., Ville, Y., Roth, P., Desguerre, I., Encha-Razavi, F., & Attie-Bitach, T. (2021). Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth defects research, 113(18), 1324-1332. https://doi.org/10.1002/bdr2.1950
Chartier, Suzanne, et al. "Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation." Birth defects research vol. 113,18 (2021): 1324-1332. doi: https://doi.org/10.1002/bdr2.1950
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 07. PMID: 34491000.
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Increased protein S-nitrosylation in mitochondria: a key mechanism of exercise-induced cardioprotection.

Basic research in cardiology

Boulghobra D, Dubois M, Alpha-Bazin B, Coste F, Olmos M, Gayrard S, Bornard I, Meyer G, Gaillard JC, Armengaud J, Reboul C.
PMID: 34940922
Basic Res Cardiol. 2021 Dec 23;116(1):66. doi: 10.1007/s00395-021-00906-3.

Endothelial nitric oxide synthase (eNOS) activation in the heart plays a key role in exercise-induced cardioprotection during ischemia-reperfusion, but the underlying mechanisms remain unknown. We hypothesized that the cardioprotective effect of exercise training could be explained by the re-localization...

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Boulghobra D, Dubois M, Alpha-Bazin B, et al. Increased protein S-nitrosylation in mitochondria: a key mechanism of exercise-induced cardioprotection. Basic Res Cardiol. 2021;116(1):66doi: 10.1007/s00395-021-00906-3.
Boulghobra, D., Dubois, M., Alpha-Bazin, B., Coste, F., Olmos, M., Gayrard, S., Bornard, I., Meyer, G., Gaillard, J. C., Armengaud, J., & Reboul, C. (2021). Increased protein S-nitrosylation in mitochondria: a key mechanism of exercise-induced cardioprotection. Basic research in cardiology, 116(1), 66. https://doi.org/10.1007/s00395-021-00906-3
Boulghobra, Doria, et al. "Increased protein S-nitrosylation in mitochondria: a key mechanism of exercise-induced cardioprotection." Basic research in cardiology vol. 116,1 (2021): 66. doi: https://doi.org/10.1007/s00395-021-00906-3
Boulghobra D, Dubois M, Alpha-Bazin B, Coste F, Olmos M, Gayrard S, Bornard I, Meyer G, Gaillard JC, Armengaud J, Reboul C. Increased protein S-nitrosylation in mitochondria: a key mechanism of exercise-induced cardioprotection. Basic Res Cardiol. 2021 Dec 23;116(1):66. doi: 10.1007/s00395-021-00906-3. PMID: 34940922.
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Extra-large-pore zeolites with two-dimensional channels formed by 14 and 12 rings.

Science (New York, N.Y.)

Paillaud JL, Harbuzaru B, Patarin J, Bats N.
PMID: 15143276
Science. 2004 May 14;304(5673):990-2. doi: 10.1126/science.1098242.

Stable zeolites that have larger pore apertures and a three-dimensional pore topology are of interest because they could be used to adsorb larger molecules, particularly for application in oil refining. Several large-pore zeolitic materials with channels formed by openings...

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Paillaud JL, Harbuzaru B, Patarin J, et al. Extra-large-pore zeolites with two-dimensional channels formed by 14 and 12 rings. Science. 2004;304(5673):990-2doi: 10.1126/science.1098242.
Paillaud, J. L., Harbuzaru, B., Patarin, J., & Bats, N. (2004). Extra-large-pore zeolites with two-dimensional channels formed by 14 and 12 rings. Science (New York, N.Y.), 304(5673), 990-2. https://doi.org/10.1126/science.1098242
Paillaud, Jean-Louis, et al. "Extra-large-pore zeolites with two-dimensional channels formed by 14 and 12 rings." Science (New York, N.Y.) vol. 304,5673 (2004): 990-2. doi: https://doi.org/10.1126/science.1098242
Paillaud JL, Harbuzaru B, Patarin J, Bats N. Extra-large-pore zeolites with two-dimensional channels formed by 14 and 12 rings. Science. 2004 May 14;304(5673):990-2. doi: 10.1126/science.1098242. PMID: 15143276.
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A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.

Journal of clinical medicine

Serratrice C, Stirnemann J, Berrahal A, Belmatoug N, Camou F, Caillaud C, Billette de Villemeur T, Dalbies F, Cador B, Froissart R, Masseau A, Brassier A, Hivert B, Swiader L, Bertchansky I, de Moreuil C, Chabrol B, Durieu I, Leguy Seguin V, Astudillo L, Humbert S, Pichard S, Marcel C, Hau Rainsard I, Bengherbia M, Yousfi K, Berger MG.
PMID: 32708003
J Clin Med. 2020 Jul 22;9(8). doi: 10.3390/jcm9082343.

Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The...

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Serratrice C, Stirnemann J, Berrahal A, et al. A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease. J Clin Med. 2020;9(8)doi: 10.3390/jcm9082343.
Serratrice, C., Stirnemann, J., Berrahal, A., Belmatoug, N., Camou, F., Caillaud, C., Billette de Villemeur, T., Dalbies, F., Cador, B., Froissart, R., Masseau, A., Brassier, A., Hivert, B., Swiader, L., Bertchansky, I., de Moreuil, C., Chabrol, B., Durieu, I., Leguy Seguin, V., Astudillo, L., Humbert, S., Pichard, S., Marcel, C., Hau Rainsard, I., Bengherbia, M., Yousfi, K., & Berger, M. G. (2020). A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease. Journal of clinical medicine, 9(8), . https://doi.org/10.3390/jcm9082343
Serratrice, Christine, et al. "A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease." Journal of clinical medicine vol. 9,8 (2020). doi: https://doi.org/10.3390/jcm9082343
Serratrice C, Stirnemann J, Berrahal A, Belmatoug N, Camou F, Caillaud C, Billette de Villemeur T, Dalbies F, Cador B, Froissart R, Masseau A, Brassier A, Hivert B, Swiader L, Bertchansky I, de Moreuil C, Chabrol B, Durieu I, Leguy Seguin V, Astudillo L, Humbert S, Pichard S, Marcel C, Hau Rainsard I, Bengherbia M, Yousfi K, Berger MG. A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease. J Clin Med. 2020 Jul 22;9(8). doi: 10.3390/jcm9082343. PMID: 32708003; PMCID: PMC7464688.
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Long-Term Survival in Locally Advanced .

Case reports in gastrointestinal medicine

Alhenc-Gelas M, Cohen R, Cervera P, Vaillant JC, André T.
PMID: 31360557
Case Rep Gastrointest Med. 2019 Jul 10;2019:8598635. doi: 10.1155/2019/8598635. eCollection 2019.

Pancreatic adenocarcinoma remains a cancer associated with a poor prognosis. For locally advanced pancreatic cancer (LAPC), median overall survival is approximately 16 months. Here we report the case of a 52-year-old LAPC patient treated with chemotherapy followed by chemoradiotherapy...

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Alhenc-Gelas M, Cohen R, Cervera P, et al. Long-Term Survival in Locally Advanced . Case Rep Gastrointest Med. 2019;2019:8598635doi: 10.1155/2019/8598635.
Alhenc-Gelas, M., Cohen, R., Cervera, P., Vaillant, J. C., & André, T. (2019). Long-Term Survival in Locally Advanced . Case reports in gastrointestinal medicine, 20198598635. https://doi.org/10.1155/2019/8598635
Alhenc-Gelas, Marion, et al. "Long-Term Survival in Locally Advanced ." Case reports in gastrointestinal medicine vol. 2019 (2019): 8598635. doi: https://doi.org/10.1155/2019/8598635
Alhenc-Gelas M, Cohen R, Cervera P, Vaillant JC, André T. Long-Term Survival in Locally Advanced . Case Rep Gastrointest Med. 2019 Jul 10;2019:8598635. doi: 10.1155/2019/8598635. eCollection 2019. PMID: 31360557; PMCID: PMC6652025.
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Intrusion/Extrusion of water into organic grafted SBA-15 silica materials for energy storage.

Journal of nanoscience and nanotechnology

Gokulakrishnan N, Parmentier J, Trzpit M, Vonna L, Paillaud JL, Soulard M.
PMID: 23763170
J Nanosci Nanotechnol. 2013 Apr;13(4):2847-52. doi: 10.1166/jnn.2013.7405.

Mesoporous SBA-15 silica materials were grafted with trialkylsilyl compounds having short (C1) and long (C8) carbon chain and characterized by XRD, N2 physisorption analysis, 29Si MAS-NMR and contact angle (CA) measurements. A drastic enhancement of the hydrophobic property after...

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Gokulakrishnan N, Parmentier J, Trzpit M, et al. Intrusion/Extrusion of water into organic grafted SBA-15 silica materials for energy storage. J Nanosci Nanotechnol. 2013;13(4):2847-52doi: 10.1166/jnn.2013.7405.
Gokulakrishnan, N., Parmentier, J., Trzpit, M., Vonna, L., Paillaud, J. L., & Soulard, M. (2013). Intrusion/Extrusion of water into organic grafted SBA-15 silica materials for energy storage. Journal of nanoscience and nanotechnology, 13(4), 2847-52. https://doi.org/10.1166/jnn.2013.7405
Gokulakrishnan, Narasimhan, et al. "Intrusion/Extrusion of water into organic grafted SBA-15 silica materials for energy storage." Journal of nanoscience and nanotechnology vol. 13,4 (2013): 2847-52. doi: https://doi.org/10.1166/jnn.2013.7405
Gokulakrishnan N, Parmentier J, Trzpit M, Vonna L, Paillaud JL, Soulard M. Intrusion/Extrusion of water into organic grafted SBA-15 silica materials for energy storage. J Nanosci Nanotechnol. 2013 Apr;13(4):2847-52. doi: 10.1166/jnn.2013.7405. PMID: 23763170.
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Cytoskeleton reorganization, a key process in root-knot nematode-induced giant cell ontogenesis.

Plant signaling & behavior

Caillaud MC, Abad P, Favery B.
PMID: 19704567
Plant Signal Behav. 2008 Oct;3(10):816-8. doi: 10.4161/psb.3.10.5889.

Root-knot nematodes are plant parasitic worms that establish and maintain an intimate relationship with their host plants. RKN induce the redifferentiation of root cells into multinucleate and hypertrophied giant cells essential for nematode growth and reproduction. Major rearrangements of...

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Caillaud MC, Abad P, Favery B. Cytoskeleton reorganization, a key process in root-knot nematode-induced giant cell ontogenesis. Plant Signal Behav. 2008;3(10):816-8doi: 10.4161/psb.3.10.5889.
Caillaud, M. C., Abad, P., & Favery, B. (2008). Cytoskeleton reorganization, a key process in root-knot nematode-induced giant cell ontogenesis. Plant signaling & behavior, 3(10), 816-8. https://doi.org/10.4161/psb.3.10.5889
Caillaud, Marie Cécile, et al. "Cytoskeleton reorganization, a key process in root-knot nematode-induced giant cell ontogenesis." Plant signaling & behavior vol. 3,10 (2008): 816-8. doi: https://doi.org/10.4161/psb.3.10.5889
Caillaud MC, Abad P, Favery B. Cytoskeleton reorganization, a key process in root-knot nematode-induced giant cell ontogenesis. Plant Signal Behav. 2008 Oct;3(10):816-8. doi: 10.4161/psb.3.10.5889. PMID: 19704567; PMCID: PMC2634382.
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Effect of emersion/immersion cycles on the elemental and isotopic compositions of the organic matter from surface sediments of an intertidal mud bank (French Guiana): a preliminary study.

Rapid communications in mass spectrometry : RCM

Gontharet S, Artigas LF, Mathieu O, Levêque J, Milloux MJ, Caillaud J, Philippe S, Lesourd S, Gardel A.
PMID: 26467227
Rapid Commun Mass Spectrom. 2015 Nov 30;29(22):2147-57. doi: 10.1002/rcm.7377.

RATIONALE: In various marine environments, the combination of elemental ratios and stable isotopic compositions is usually used to trace the sources of organic matter (OM) in sediments. However, in intertidal areas, the sediments might be temporarily exposed to air...

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Gontharet S, Artigas LF, Mathieu O, et al. Effect of emersion/immersion cycles on the elemental and isotopic compositions of the organic matter from surface sediments of an intertidal mud bank (French Guiana): a preliminary study. Rapid Commun Mass Spectrom. 2015;29(22):2147-57doi: 10.1002/rcm.7377.
Gontharet, S., Artigas, L. F., Mathieu, O., Levêque, J., Milloux, M. J., Caillaud, J., Philippe, S., Lesourd, S., & Gardel, A. (2015). Effect of emersion/immersion cycles on the elemental and isotopic compositions of the organic matter from surface sediments of an intertidal mud bank (French Guiana): a preliminary study. Rapid communications in mass spectrometry : RCM, 29(22), 2147-57. https://doi.org/10.1002/rcm.7377
Gontharet, Swanne, et al. "Effect of emersion/immersion cycles on the elemental and isotopic compositions of the organic matter from surface sediments of an intertidal mud bank (French Guiana): a preliminary study." Rapid communications in mass spectrometry : RCM vol. 29,22 (2015): 2147-57. doi: https://doi.org/10.1002/rcm.7377
Gontharet S, Artigas LF, Mathieu O, Levêque J, Milloux MJ, Caillaud J, Philippe S, Lesourd S, Gardel A. Effect of emersion/immersion cycles on the elemental and isotopic compositions of the organic matter from surface sediments of an intertidal mud bank (French Guiana): a preliminary study. Rapid Commun Mass Spectrom. 2015 Nov 30;29(22):2147-57. doi: 10.1002/rcm.7377. PMID: 26467227.
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