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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15.
EMBO Mol Med. 2021.
PMID: 34779586
Free PMC article.
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
Völker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D, Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J, Schwake M.
Völker JM, et al. Among authors: koliwer j.
Dis Model Mech. 2017 Dec 19;10(12):1391-1398. doi: 10.1242/dmm.029132.
Dis Model Mech. 2017.
PMID: 28982678
Free PMC article.
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The Golgi-Associated PDZ Domain Protein Gopc/PIST Is Required for Synaptic Targeting of mGluR5.
Klüssendorf M, Song I, Schau L, Morellini F, Dityatev A, Koliwer J, Kreienkamp HJ.
Klüssendorf M, et al. Among authors: koliwer j.
Mol Neurobiol. 2021 Nov;58(11):5618-5634. doi: 10.1007/s12035-021-02504-9. Epub 2021 Aug 12.
Mol Neurobiol. 2021.
PMID: 34383253
Free PMC article.
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The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization.
Koliwer J, Park M, Bauch C, von Zastrow M, Kreienkamp HJ.
Koliwer J, et al.
J Biol Chem. 2015 Mar 6;290(10):6120-9. doi: 10.1074/jbc.M114.605725. Epub 2015 Jan 22.
J Biol Chem. 2015.
PMID: 25614626
Free PMC article.
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Subcellular sorting of the G-protein coupled mouse somatostatin receptor 5 by a network of PDZ-domain containing proteins.
Bauch C, Koliwer J, Buck F, Hönck HH, Kreienkamp HJ.
Bauch C, et al. Among authors: koliwer j.
PLoS One. 2014 Feb 11;9(2):e88529. doi: 10.1371/journal.pone.0088529. eCollection 2014.
PLoS One. 2014.
PMID: 24523912
Free PMC article.
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