A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival.

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Research Abstract Details 

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A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Abstract Text:

Lynsey Meikle,Delia M Talos,Hiroaki Onda,Kristen Pollizzi,Alexander Rotenberg,Mustafa Sahin,Frances E Jensen,David J Kwiatkowski,

Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 in which cerebral cortical tubers and seizures are major clinical issues. We have engineered mice in which most cortical neurons lose Tsc1 expression during embryonic development. These Tsc1 mutant mice display several neurological abnormalities beginning at postnatal day 5 with subsequent failure to thrive and median survival of 35 d. The mice also display clinical and electrographic seizures both spontaneously and with physical stimulation, and some seizures end in a fatal tonic phase. Many cortical and hippocampal neurons are enlarged and/or dysplastic in the Tsc1 mutant mice, strongly express phospho-S6, and are ectopic in multiple sites in the cortex and hippocampus. There is a striking delay in myelination in the mutant mice, which appears to be caused by an inductive neuronal defect. This new TSC brain model replicates several features of human TSC brain lesions and implicates an important function of Tsc1/Tsc2 in neuronal development.

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Publishing Authors By Initials

L Meikle,DM Talos,H Onda,K Pollizzi,A Rotenberg,M Sahin,FE Jensen,DJ Kwiatkowski,

For similar proteins: neoplasm proteins: tumor suppressor proteins research abstracts see: proteins: neoplasm proteins: tumor suppressor proteins research

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A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The Journal of neuroscience : the official journal

VOLUME: 27

Page Numbers: 5546-58

Journal Abbreviation: J. Neurosci.

ISSN: 1529-2401

DAY: 23

MONTH: May

YEAR: 2007

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Information

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LANGUAGE: eng

NlmUniqueID: 8102140

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Keywords Mesh Terms:

KEYWORDS: Tumor Suppressor Proteins

MESH TERMS: physiology

Chemical & Substance for Abstract: A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. Information

Substance Name: tuberous sclerosis complex 1 protein

Registry Number: 0

Grant and Affiliation Information for A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival.

AFFILIATION: Division of Translational Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

Country: United States

AGENCY: United States NINDS

GRANT: NS31718

ACRONYM: NS

MEDLINETA: J Neurosci

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