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Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm

Mundel P and Holthofer H, Simons M, Schwarz K, Kriz W, Miettinen A, Reiser J

American Journal of Pathology, 2001 159(3):1069-77,


Directed membrane transport is involved in process formation in cultured podocytes

Simons M, Saffrich R, Reiser J and Mundel P

Journal of the American Society of Nephrology, 1999 10(8):1633-9,


High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot JC, Thiel C, Foulquier F, Lefort N, Faivre-Sarrailh C, Colleaux L, Guerrera IC, Cantagrel V

eLife


De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V

Brain. 141(7):1998-2013


AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B

Nature Communication (2017)


Mutations in NONO are a novel cause of syndromic intellectual disability and inhibitory synaptic defects.

D Mircsof, M Langouet, M Rio, S Moutton, K Siquier-Pernet, C Bole-Feysot, N Cagnard, P Nitschke, L Gaspar, M Znidari, O Alibeu, Ak Fritz, Dp Wolfer, A Schröter, G Bosshard, M Rudin, C Koester, F Crestani, P Seebeck, N Boddaert, Jm Fritschy, A Munnich, J Amiel, Sa Brown, Sk Tyagarajan, L Colleaux

Nature Neuroscience 18 :1731-36


Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Akizu N, Cantagrel V, Zaki Ms, Al-Gazali L, Wang X, Rosti Ro, Dikoglu E, Gelot Ab, Rosti B, Vaux Kk, Scott Em, Silhavy Jl, Schroth J, Copeland B, Schaffer Ae, Gordts Pl, Esko Jd, Buschman Md, Field Sj, Napolitano G, Abdel-Salam Gm, Ozgul Rk, Sagiroglu Ms, Azam M, Ismail S, Aglan M, Selim L, Mahmoud Ig, Abdel-Hadi S, Badawy Ae, Sadek Aa, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova Jl, Dursun A, Gunel M, Gabriel Sb, De Lonlay P, Gleeson Jg (2015)

Nature Genetics 47:528-34


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