Literature DB >> 17632034

The tuberous sclerosis complex proteins--a GRIPP on cognition and neurodevelopment.

Petrus J de Vries1, Christopher J Howe.   

Abstract

Tuberous sclerosis complex (TSC) is a multi-system disorder associated with mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes. The neurocognitive features of TSC show wide variability and have generally been attributed to structural brain abnormalities and/or seizures. We review the fundamental roles of TSC1 and TSC2 in cell signalling and propose that because the hamartin-tuberin complex (hereafter referred to as TSC1-2) acts as a global regulator and integrator of a range of physiological processes ('GRIPP') the neurocognitive manifestations of TSC result directly from cell-signalling abnormalities. Under the GRIPP hypothesis, the spectrum of neurodevelopmental abnormalities is caused by the biochemical consequences of individual TSC1 and TSC2 mutations. Recognizing the importance of signalling disruption in the brain might improve our understanding of other neurocognitive disorders.

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Year:  2007        PMID: 17632034     DOI: 10.1016/j.molmed.2007.06.003

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  31 in total

Review 1.  Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex.

Authors:  Petrus J de Vries
Journal:  Neurotherapeutics       Date:  2010-07       Impact factor: 7.620

2.  Papillary thyroid carcinoma in a boy with familial tuberous sclerosis complex attributable to a TSC2 deletion-a case report.

Authors:  M Flader; P Kurzawa; J Maldyk; J Sygut; J Harasymczuk; A Kropinska; D Handkiewicz-Junak; B Jarzab; K Kotulska; M Niedziela
Journal:  Curr Oncol       Date:  2017-10-25       Impact factor: 3.677

3.  MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex.

Authors:  Anne Gallagher; Ellen P Grant; Neel Madan; Delma Y Jarrett; David A Lyczkowski; Elizabeth A Thiele
Journal:  J Neurol       Date:  2010-03-30       Impact factor: 4.849

4.  Genetics and neuropsychiatric disorders: genome-wide, yet narrow.

Authors:  Petrus J de Vries
Journal:  Nat Med       Date:  2009-08       Impact factor: 53.440

Review 5.  A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Authors:  Petrus J de Vries; Lucy Wilde; Magdalena C de Vries; Romina Moavero; Deborah A Pearson; Paolo Curatolo
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-08-16       Impact factor: 3.908

6.  Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes.

Authors:  Madhura S Mehta; Alexei Vazquez; Diptee A Kulkarni; John E Kerrigan; Gurinder Atwal; Shoichi Metsugi; Deborah L Toppmeyer; Arnold J Levine; Kim M Hirshfield
Journal:  Breast Cancer Res Treat       Date:  2010-07-25       Impact factor: 4.872

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

Authors:  Jiayue Qin; Zhizhi Wang; Marianne Hoogeveen-Westerveld; Guobo Shen; Weimin Gong; Mark Nellist; Wenqing Xu
Journal:  J Biol Chem       Date:  2016-02-18       Impact factor: 5.157

Review 8.  Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders.

Authors:  Dan Ehninger; Alcino J Silva
Journal:  Trends Mol Med       Date:  2010-11-04       Impact factor: 11.951

9.  Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.

Authors:  Dan Ehninger; Sangyeul Han; Carrie Shilyansky; Yu Zhou; Weidong Li; David J Kwiatkowski; Vijaya Ramesh; Alcino J Silva
Journal:  Nat Med       Date:  2008-06-22       Impact factor: 53.440

Review 10.  From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis.

Authors:  D Ehninger; P J de Vries; A J Silva
Journal:  J Intellect Disabil Res       Date:  2009-08-19
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