Publications:

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Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: Y598H

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Scientific Reports

Ye, Yicong Y; Zeng, Yong Y

Publication Date: 2019-03-14

Variant appearance in text: TSC2: Y598H

PubMed Link: 30872599

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38898.pdf

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: Y598H

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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Suppressed expression of autophagosomal protein LC3 in cortical tubers of tuberous sclerosis complex.

Brain Pathology (Zurich, Switzerland)

Miyahara, Hiroaki H; Natsumeda, Manabu M; Shiga, Atsushi A; Aoki, Hiroshi H; Toyoshima, Yasuko Y; Zheng, Yingjun Y; Takeuchi, Ryoko R; Murakami, Hiroatsu H; Masuda, Hiroshi H; Kameyama, Shigeki S; Izumi, Tatsuro T; Fujii, Yukihiko Y; Takahashi, Hitoshi H; Kakita, Akiyoshi A

Publication Date: 2013-05

Variant appearance in text: TSC2: Y598H

PubMed Link: 22974335

Variant Present in the following documents:

• Main text

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Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics

Napolioni, Valerio V; Curatolo, Paolo P

Publication Date: 2008-11

Variant appearance in text: TSC2: Y598H

PubMed Link: 19506736

Variant Present in the following documents:

• Main text

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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Bmc Medical Genetics

Nellist, Mark M; Sancak, Ozgür O; Goedbloed, Miriam M; Adriaans, Alwin A; Wessels, Marja M; Maat-Kievit, Anneke A; Baars, Marieke M; Dommering, Charlotte C; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2008-02-26

Variant appearance in text: TSC2: Y598H

PubMed Link: 18302728

Variant Present in the following documents:

• Main text
• 1471-2350-9-10.pdf

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