Simone Kuhnle
Overview
Explore the profile of Simone Kuhnle including associated specialties, affiliations and a list of published articles.
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8
Citations
359
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Recent Articles
1.
Kuhnle S, Martinez-Noel G, Leclere F, Hayes S, Harper J, Howley P
J Biol Chem
. 2018 Sep;
293(47):18387-18399.
PMID: 30257870
Deregulation of the HECT ubiquitin ligase UBE3A/E6AP has been implicated in Angelman syndrome as well as autism spectrum disorders. We and others have previously identified the 26S proteasome as one...
2.
Martinez-Noel G, Luck K, Kuhnle S, Desbuleux A, Szajner P, Galligan J, et al.
J Mol Biol
. 2018 Feb;
430(7):1024-1050.
PMID: 29426014
Perturbations in activity and dosage of the UBE3A ubiquitin-ligase have been linked to Angelman syndrome and autism spectrum disorders. UBE3A was initially identified as the cellular protein hijacked by the...
3.
Mortensen F, Schneider D, Barbic T, Sladewska-Marquardt A, Kuhnle S, Marx A, et al.
Proc Natl Acad Sci U S A
. 2015 Jul;
112(32):9872-7.
PMID: 26216987
Deregulation of the ubiquitin ligase E6 associated protein (E6AP) encoded by the UBE3A gene has been associated with three different clinical pictures. Hijacking of E6AP by the E6 oncoprotein of...
4.
French C, Rahman S, Walsh E, Kuhnle S, Grayson A, Lemieux M, et al.
Cancer Discov
. 2014 May;
4(8):928-41.
PMID: 24875858
Unlabelled: NUT midline carcinoma (NMC) is an aggressive subtype of squamous cell carcinoma that typically harbors BRD4/3-NUT fusion oncoproteins that block differentiation and maintain tumor growth. In 20% of cases,...
5.
Kuhnle S, Mothes B, Matentzoglu K, Scheffner M
Proc Natl Acad Sci U S A
. 2013 May;
110(22):8888-93.
PMID: 23671107
Inactivation of the ubiquitin ligase E6 associated protein (E6AP) encoded by the UBE3A gene has been associated with development of the Angelman syndrome. Recently, it was reported that in mice,...
6.
Harlalka G, Baple E, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, et al.
J Med Genet
. 2012 Dec;
50(2):65-73.
PMID: 23243086
Background: Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin ligase HERC2, encoded by the...
7.
Kuhnle S, Kogel U, Glockzin S, Marquardt A, Ciechanover A, Matentzoglu K, et al.
J Biol Chem
. 2011 Apr;
286(22):19410-6.
PMID: 21493713
Deregulation of the ubiquitin-protein ligase E6AP contributes to the development of the Angelman syndrome and to cervical carcinogenesis suggesting that the activity of E6AP needs to be under tight control....
8.
Xu J, Lucas R, Schuchmann M, Kuhnle S, Meergans T, Barreiros A, et al.
J Immunol
. 2003 Jul;
171(2):938-47.
PMID: 12847265
Infection remains the major complication of immunosuppressive therapy in organ transplantation. Therefore, reconstitution of the innate immunity against infections, without activation of the adaptive immune responses, to prevent graft rejection...