Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

(2010) Marianne Hoogeveen-Westerveld et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex

(2009) Melika Mozaffari et al.   BMC Medical Genetics

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment

(2009) K. Inoki et al.   HUMAN MOLECULAR GENETICS

Hamartin Variants That Are Frequent in Focal Dysplasias and Cortical Tubers Have Reduced Tuberin Binding and Aberrant Subcellular Distribution In Vitro

(2009) Céline Lugnier et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

(2008) Mark Nellist et al.   BMC Medical Genetics

A reliable cell-based assay for testing unclassified TSC2 gene variants

(2008) Ricardo Coevoets et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

(2008) Mark Nellist et al.   EUROPEAN JOURNAL OF HUMAN GENETICS