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Keywords: autism
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Articles

Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia

Cecilie Morland, Anne-Sofie Frøland, Mi Nguyen Pettersen, Jon Storm-Mathisen, Vidar Gundersen, Frode Rise, Bjørnar Hassel
Journal: Biochemical Journal
Biochem J (2018) 475 (4): 749–758.
https://doi.org/10.1042/BCJ20170814
Published: 16 February 2018
... 10 2017 29 12 2017 16 1 2018 16 1 2018 © 2018 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society 2018 autism caudate GABA transaminase propionic acidemia propionyl-CoA synthetase striatum Propionic acidemia is a devastating...
View articletitled, Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia
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Articles

Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system

Lisa Ulbrich, Flores Lietta Favaloro, Laura Trobiani, Valentina Marchetti, Vruti Patel, Tiziana Pascucci, Davide Comoletti, Stefan J. Marciniak, Antonella De Jaco
Journal: Biochemical Journal
Biochem J (2016) 473 (4): 423–434.
https://doi.org/10.1042/BJ20150274
Published: 09 February 2016
...Lisa Ulbrich; Flores Lietta Favaloro; Laura Trobiani; Valentina Marchetti; Vruti Patel; Tiziana Pascucci; Davide Comoletti; Stefan J. Marciniak; Antonella De Jaco Several forms of monogenic heritable autism spectrum disorders are associated with mutations in the neuroligin genes. The autism-linked...
View articletitled, Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system
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Includes: Supplementary data
Articles

Homodimerization and isoform-specific heterodimerization of neuroligins

Alexandros Poulopoulos, Tolga Soykan, Liam P. Tuffy, Matthieu Hammer, Frédérique Varoqueaux, Nils Brose
Journal: Biochemical Journal
Biochem J (2012) 446 (2): 321–330.
https://doi.org/10.1042/BJ20120808
Published: 14 August 2012
... the neuroligin transmembrane domain, ensuring that dimerization occurs prior to cell surface trafficking. Lastly, we identified differences in the dimerization capacity of autism-associated neuroligin mutants, and found that neuroligin 3 R471C mutants can form heterodimers with neuroligin 1. The pervasive nature...
View articletitled, Homodimerization and isoform-specific heterodimerization of neuroligins
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Includes: Supplementary data