Literature DB >> 32399470

The Role of PTEN in Neurodevelopment.

Patrick D Skelton1, Radu V Stan2, Bryan W Luikart1.   

Abstract

PTEN is a lipid and protein phosphatase that regulates cell growth and survival. Mutations to PTEN are highly penetrant for autism spectrum disorder (ASD). Here, we briefly review the evidence linking PTEN mutations to ASD and the mouse models that have been used to study the role of PTEN in neurodevelopment. We then focus on the cellular phenotypes associated with PTEN loss in neurons, highlighting the role PTEN plays in neuronal proliferation, migration, survival, morphology, and plasticity.
Copyright © 2019 by S. Karger AG, Basel.

Entities:  

Keywords:  ASD; Autism; Autism spectrum disorder; Epilepsy; PTEN; Synapse

Year:  2020        PMID： 32399470      PMCID： PMC7206585          DOI： 10.1159/000504782

Source DB:  PubMed          Journal:  Mol Neuropsychiatry        ISSN： 2296-9179


  117 in total

1.  Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits.

Authors:  Guomei Tang; Kathryn Gudsnuk; Sheng-Han Kuo; Marisa L Cotrina; Gorazd Rosoklija; Alexander Sosunov; Mark S Sonders; Ellen Kanter; Candace Castagna; Ai Yamamoto; Zhenyu Yue; Ottavio Arancio; Bradley S Peterson; Frances Champagne; Andrew J Dwork; James Goldman; David Sulzer
Journal:  Neuron       Date:  2014-08-21       Impact factor: 17.173

2.  Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

Authors:  T Busa; M Milh; N Degardin; N Girard; S Sigaudy; M Longy; S Olshchwang; H Sobol; B Chabrol; N Philip
Journal:  Eur J Paediatr Neurol       Date:  2014-12-16       Impact factor: 3.140

3.  Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive.

Authors:  Michael R Williams; Tyrone DeSpenza; Meijie Li; Allan T Gulledge; Bryan W Luikart
Journal:  J Neurosci       Date:  2015-01-21       Impact factor: 6.167

4.  Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice.

Authors:  Jing Zhou; Jacqueline Blundell; Shiori Ogawa; Chang-Hyuk Kwon; Wei Zhang; Christopher Sinton; Craig M Powell; Luis F Parada
Journal:  J Neurosci       Date:  2009-02-11       Impact factor: 6.167

5.  Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism.

Authors:  Koichi Takeuchi; Michael J Gertner; Jing Zhou; Luis F Parada; Michael V L Bennett; R Suzanne Zukin
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-04       Impact factor: 11.205

6.  Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN.

Authors:  V Stambolic; A Suzuki; J L de la Pompa; G M Brothers; C Mirtsos; T Sasaki; J Ruland; J M Penninger; D P Siderovski; T W Mak
Journal:  Cell       Date:  1998-10-02       Impact factor: 41.582

7.  Tuberous sclerosis complex proteins control axon formation.

Authors:  Yong-Jin Choi; Alessia Di Nardo; Ioannis Kramvis; Lynsey Meikle; David J Kwiatkowski; Mustafa Sahin; Xi He
Journal:  Genes Dev       Date:  2008-09-15       Impact factor: 11.361

8.  Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function.

Authors:  Lynsey Meikle; Kristen Pollizzi; Anna Egnor; Ioannis Kramvis; Heidi Lane; Mustafa Sahin; David J Kwiatkowski
Journal:  J Neurosci       Date:  2008-05-21       Impact factor: 6.167

9.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Authors:  Brian J O'Roak; Laura Vives; Santhosh Girirajan; Emre Karakoc; Niklas Krumm; Bradley P Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D Smith; Emily H Turner; Ian B Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M Akey; Elhanan Borenstein; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Jay Shendure; Evan E Eichler
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

10.  Most genetic risk for autism resides with common variation.

Authors:  Trent Gaugler; Lambertus Klei; Stephan J Sanders; Corneliu A Bodea; Arthur P Goldberg; Ann B Lee; Milind Mahajan; Dina Manaa; Yudi Pawitan; Jennifer Reichert; Stephan Ripke; Sven Sandin; Pamela Sklar; Oscar Svantesson; Abraham Reichenberg; Christina M Hultman; Bernie Devlin; Kathryn Roeder; Joseph D Buxbaum
Journal:  Nat Genet       Date:  2014-07-20       Impact factor: 38.330
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  11 in total

Review 1.  PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.

Authors:  Tyrone DeSpenza; Marina Carlson; Shreyas Panchagnula; Stephanie Robert; Phan Q Duy; Nell Mermin-Bunnell; Benjamin C Reeves; Adam Kundishora; Aladine A Elsamadicy; Hannah Smith; Jack Ocken; Seth L Alper; Sheng Chih Jin; Ellen J Hoffman; Kristopher T Kahle
Journal:  Trends Neurosci       Date:  2021-10-05       Impact factor: 13.837

2.  Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury.

Authors:  Sofia Meyer Zu Reckendorf; Diana Moser; Anna Blechschmidt; Venkata Neeha Joga; Daniela Sinske; Jutta Hegler; Stefanie Deininger; Alberto Catanese; Sabine Vettorazzi; Gregor Antoniadis; Tobias Boeckers; Bernd Knöll
Journal:  J Neurosci       Date:  2022-02-11       Impact factor: 6.709

3.  mTOR-driven neural circuit changes initiate an epileptogenic cascade.

Authors:  Candi L LaSarge; Raymund Y K Pun; Zhiqing Gu; Matthew R Riccetti; Devi V Namboodiri; Durgesh Tiwari; Christina Gross; Steve C Danzer
Journal:  Prog Neurobiol       Date:  2020-12-09       Impact factor: 11.685

4.  Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity.

Authors:  Nick Sarn; Stetson Thacker; Hyunpil Lee; Charis Eng
Journal:  Mol Autism       Date:  2021-06-04       Impact factor: 7.509

5.  Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.

Authors:  Anil Prakash; Moinak Banerjee
Journal:  Sci Rep       Date:  2021-05-13       Impact factor: 4.379

6.  miR-19b-3p relieves intervertebral disc degeneration through modulating PTEN/PI3K/Akt/mTOR signaling pathway.

Authors:  Yulin Zhao; Aimin Li
Journal:  Aging (Albany NY)       Date:  2021-09-23       Impact factor: 5.682

7.  Pten heterozygosity restores neuronal morphology in fragile X syndrome mice.

Authors:  Shivaprasad H Sathyanarayana; Jasmine A Saunders; Jacob Slaughter; Kamran Tariq; Rajarshi Chakrabarti; Madhumala K Sadanandappa; Bryan W Luikart; Giovanni Bosco
Journal:  Proc Natl Acad Sci U S A       Date:  2022-04-08       Impact factor: 12.779

8.  Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.

Authors:  Ritsuko Kimata Pooh; Megumi Machida; Issei Imoto; Eri Noel Arai; Hiroyasu Ohashi; Masayoshi Takeda; Osamu Shimokawa; Kaori Fukuta; Arihiro Shiozaki; Shigeru Saito; Hideaki Chiyo
Journal:  Genes (Basel)       Date:  2021-03-02       Impact factor: 4.096

9.  PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

Authors:  Daniel C Koboldt; Katherine E Miller; Anthony R Miller; Jocelyn M Bush; Sean McGrath; Kristen Leraas; Erin Crist; Summer Fair; Wesley Schwind; Saranga Wijeratne; James Fitch; Jeffrey Leonard; Ammar Shaikhouni; Mark E Hester; Vincent Magrini; Mai-Lan Ho; Christopher R Pierson; Richard K Wilson; Adam P Ostendorf; Elaine R Mardis; Tracy A Bedrosian
Journal:  Brain       Date:  2021-11-29       Impact factor: 15.255

Review 10.  Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models.

Authors:  Polina Kosillo; Helen S Bateup
Journal:  Front Neural Circuits       Date:  2021-07-23       Impact factor: 3.492
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