Publications by authors named "Mark Nellist"


Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Sci Rep 2020 06 18;10(1):9909. Epub 2020 Jun 18.

Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark.

View Article and Find Full Text PDF
June 2020

Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.

Structure 2020 08 4;28(8):933-942.e4. Epub 2020 Jun 4.

Westfälische Wilhelms-Universität, Institute of Biochemistry, Wilhelm Klemm-Str. 2, 48149 Münster, Germany. Electronic address:

View Article and Find Full Text PDF
August 2020

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Am J Med Genet A 2017 Mar;173(3):771-775

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

View Article and Find Full Text PDF
March 2017

TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy.

Biochim Biophys Acta 2016 11 16;1863(11):2658-2667. Epub 2016 Aug 16.

Faculty of Pharmacy, Department of Biochemistry and Molecular Biology II, Complutense University of Madrid, Madrid 28040, Spain; Spanish Biomedical Research Center in Diabetes and associated metabolic disorders (CIBERDEM), Instituto de Salud Carlos III, Spain.

View Article and Find Full Text PDF
November 2016

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).

J Biol Chem 2016 Apr 18;291(16):8591-601. Epub 2016 Feb 18.

From the Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China, the Department of Biological Structure, University of Washington, Seattle, Washington 98195,

View Article and Find Full Text PDF
April 2016

Structure of the TBC1D7-TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil region.

J Mol Cell Biol 2016 Oct;8(5):411-425

State Key Laboratory of Microbial Metabolism, School of Life Sciences & Biotechnology, Shanghai Jiao Tong University, Shanghai, China.

View Article and Find Full Text PDF
October 2016

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

Hum Mutat 2015 Feb 27;36(2):200-9. Epub 2014 Nov 27.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

View Article and Find Full Text PDF
February 2015