Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder-Reference-Cited by-同舟云学术

Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

Published:2013-04-24 Issue:182 Volume:5 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Parker Whitney E.¹,Orlova Ksenia A.¹,Parker William H.¹,Birnbaum Jacqueline F.¹,Krymskaya Vera P.²,Goncharov Dmitry A.²,Baybis Marianna¹,Helfferich Jelte¹³,Okochi Kei¹,Strauss Kevin A.⁴⁵⁶,Crino Peter B.¹

Affiliation:

1. Penn Epilepsy Center and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

2. Pulmonary, Allergy and Critical Care Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

3. University of Groningen School of Medicine, Groningen, the Netherlands.

4. Clinic for Special Children, Strasburg, PA 17579, USA.

5. Department of Biology, Franklin and Marshall College, Lancaster, PA 17603, USA.

6. Lancaster General Hospital, Lancaster, PA 17602, USA.

Abstract

Blocking mTORC1 rescues the neural progenitor cell migratory defect caused by depletion of the STRADA pseudokinase and reduces seizures in patients with a rare neurodevelopmental disorder.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference33 articles.

1. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

2. STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

3. Structure of the LKB1-STRAD-MO25 Complex Reveals an Allosteric Mechanism of Kinase Activation

4. LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1

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