NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Coutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, Francois; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Lariviere, Roxanne; Sgarioto, Nicolas; Valter, Remi; Guillot-Noel, Lena; Le Ber, Isabelle; Sayah, Sabrina; Charles, Perrine; Nuemann, Astrid; Pauly, Martje G.; Helmchen, Christoph; Deininger, Natalie; Haack, Tobias B.; Brais, Bernard; Brice, Alexis; Tregouet, David-Alexandre; El Hachimi, Khalid H.; Shoubridge, Eric A.; Durr, Alexandra; Stevanin, Giovanni

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Autor(en):

Coutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, Francois; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Lariviere, Roxanne; Sgarioto, Nicolas; Valter, Remi; Guillot-Noel, Lena; Le Ber, Isabelle; Sayah, Sabrina; Charles, Perrine; Nuemann, Astrid; Pauly, Martje G.; Helmchen, Christoph; Deininger, Natalie; Haack, Tobias B.; Brais, Bernard; Brice, Alexis; Tregouet, David-Alexandre; El Hachimi, Khalid H.; Shoubridge, Eric A.; Durr, Alexandra; Stevanin, Giovanni

Tübinger Autor(en):

Deininger, Natalie
Haack, Tobias

Erschienen in:

Brain (2022), Bd. 145, H. 4, S. 1519-1534

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/brain/awab407

ISSN:

0006-8950