Publications by authors named "Mark Nellist"

46Publications

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.

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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:

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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.

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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.

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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,

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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.

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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.

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February 2015