Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Sandrine Vuillaumier-Barrot"'
Autor:
Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1465-1474 (2022)
Abstract Ultra‐rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Here, we describe 11 affected individuals from fou
Externí odkaz:
https://doaj.org/article/0069e864fab94067923113299b1deef1
Autor:
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100775- (2021)
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders. MAN1B1-CDG is a CDG with nonspecific clinical
Externí odkaz:
https://doaj.org/article/034a12e529784f2f8fecf4cbb92a51e7
Autor:
Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology. 9:1465-1474
Ultra-rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Here, we describe 11 affected individuals from four unpublish
Autor:
Rita Barone, Filippo Vairo, Bobby G. Ng, Jaak Jaeken, Gert Matthijs, James Pitt, Thierry Dupré, Lyndon Gallacher, Liesbeth Keldermans, Helen Michelakakis, Marina Ventouratou, Susan M. White, Sze Chern Lim, Melissa Baerenfaenger, Mirian C. H. Janssen, Angel Ashikov, Karin Huijben, Sandrine Vuillaumier-Barrot, Diana Ballhausen, Daisy Rymen, Agustí Rodríguez-Palmero, Blai Morales-Romero, Antonia Ribes, Peter Witters, Heidi Peters, Erika Souche, Eva Morava, Agata Fiumara, Pascale de Lonlay, Matthew P. Wilson, Dirk Lefeber, Wasantha Ranatunga, Alejandro Garanto, Hudson H. Freeze, Christian Thiel
Publikováno v:
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
The American Journal of Human Genetics
Wilson, M P, Garanto, A, Pinto e Vairo, F, Ng, B G, Ranatunga, W K, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupré, T, Michelakakis, H, Fiumara, A, Pitt, J, White, S M, Lim, S C, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodríguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, M C H, Jaeken, J, Freeze, H H, Matthijs, G, Morava, E & Lefeber, D J 2021, ' Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2130-2144 . https://doi.org/10.1016/j.ajhg.2021.09.012
American Journal of Human Genetics, 108(11), 2130-2144. Cell Press
American Journal of Human Genetics, 108, 11, pp. 2130-2144
American Journal of Human Genetics, 108, 2130-2144
Am J Hum Genet
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
The American Journal of Human Genetics
Wilson, M P, Garanto, A, Pinto e Vairo, F, Ng, B G, Ranatunga, W K, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupré, T, Michelakakis, H, Fiumara, A, Pitt, J, White, S M, Lim, S C, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodríguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, M C H, Jaeken, J, Freeze, H H, Matthijs, G, Morava, E & Lefeber, D J 2021, ' Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2130-2144 . https://doi.org/10.1016/j.ajhg.2021.09.012
American Journal of Human Genetics, 108(11), 2130-2144. Cell Press
American Journal of Human Genetics, 108, 11, pp. 2130-2144
American Journal of Human Genetics, 108, 2130-2144
Am J Hum Genet
Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants
Autor:
Anne-Sophie Alaix, Arnaud Bruneel, Claude Besmond, Thierry Dupré, Alexandre Raynor, Catherine Vincent-Delorme, Sandrine Vuillaumier-Barrot, Sophie Cholet, François Fenaille
Publikováno v:
Clinica Chimica Acta
Clinica Chimica Acta, 2021, 519, pp.285-290. ⟨10.1016/j.cca.2021.05.016⟩
Clinica Chimica Acta, Elsevier, 2021, 519, pp.285-290. ⟨10.1016/j.cca.2021.05.016⟩
Clinica Chimica Acta, 2021, 519, pp.285-290. ⟨10.1016/j.cca.2021.05.016⟩
Clinica Chimica Acta, Elsevier, 2021, 519, pp.285-290. ⟨10.1016/j.cca.2021.05.016⟩
International audience; We identified three cases of congenital disorders of glycosylation (CDG) with Golgi homeostasis disruption, one ATP6V0A2-CDG and two COG4-CDG, with normal transferrin screening analyses. Patient 1 (P1) presented at birth with
Autor:
Baptiste Giguet, Arnaud Bruneel, Sandrine Vuillaumier Barrot, Romain Moirand, Edouard Bardou Jacquet
Publikováno v:
JHEP Reports Innovation in Hepatology
JHEP Reports Innovation in Hepatology, 2022, 4 (7), pp.100494. ⟨10.1016/j.jhepr.2022.100494⟩
JHEP Reports Innovation in Hepatology, 2022, 4 (7), pp.100494. ⟨10.1016/j.jhepr.2022.100494⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b166848d3dfcbb4e201fe9816d103f01
https://hal.science/hal-03690343
https://hal.science/hal-03690343
Autor:
Tiffany Pascreau, Walid Haouari, Celia Raulet-Bussian, Annie Harroche, Arnaud Bruneel, Sophie Cholet, Bobby G. Ng, Sandrine Vuillaumier-Barrot, Hudson H. Freeze, Samra Lounis-Ouaras, Alexandre Raynor, François Fenaille, Delphine Borgel
Publikováno v:
Clin Chim Acta
SLC37A4-CDG is an emerging congenital disorder of glycosylation which is characterized by a dominant inheritance and a major coagulopathy originating from the liver. Recent studies took interest in the biochemical alterations found in this CDG and sh
Autor:
Nathalie Seta, Mercedes Serrano, Claudia Castiglioni, Cristina Hernando-Davalillo, Thierry Dupré, Arnaud Wiedemann, Raquel Montero, Arnaud Bruneel, Fanny Cortés, François Feillet, Christine Barnerias, Jordi Muchart, Sandrine Vuillaumier-Barrot
Publikováno v:
Human Mutation. 42:142-149
Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pa
Autor:
Barbara Brechmann, Sandrine Vuillaumier-Barrot, Kathrin Eberhardt, Mohammad Ali Faghihi, Jennifer Hirst, Jan De Bleecker, Lee Barrett, Stéphane Auvin, Afshin Saffari, Filippo M. Santorelli, Julian E. Alecu, Bernt Popp, Sonja Neuser, Darius Ebrahimi-Fakhari, Alexandra K Davies, Angelica D'Amore, Parham Habibzadeh, Hellen Jumo, Edward Yang, Marvin Ziegler, Mustafa Sahin
Publikováno v:
Brain Communications
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate complex. While the diagnosis of adaptor protein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565d14b139dcc05a846c785c59bacfe
Autor:
Michael Kulik, Deepti M. Warad, Nathalie Seta, Mathieu Fiore, Anne Dell, Sandrine Vuillaumier-Barrot, Zhi-Jie Xia, Tadahiro Kumagai, Hudson H. Freeze, François Fenaille, Katherine Mcgoogan, Kimiyo Raymond, Mindy Porterfield, Thierry Dupré, Marie-Christine Vergnes-Boiteux, Deborah A. Nickerson, Michael Tiemeyer, Sophie Cholet, Michael J. Bamshad, Caroline Michot, Arnaud Bruneel, Tiffany Pascreau, Heather Flanagan-Steet, Shannon M. Wagner, Stuart M. Haslam, Bobby G. Ng, Delphine Borgel, Paulina Sosicka, Stephen Dalton, Richard Steet, Yohann Huguenin, Annie Harroche
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩
American Journal of Human Genetics, 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩
International audience; SLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane protein required for transporting glucose-6-phosphate (Glc-6P) into the ER. Once transported into the ER, Glc-6P is subsequently hydrolyzed by tissue-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a6e63388ac47d2efef992f6e46252b
https://hal.inrae.fr/hal-03321294
https://hal.inrae.fr/hal-03321294