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The PTEN Family

Book Series:  A Cold Spring Harbor Perspectives in Medicine Collection
Subject Area(s):  Cell BiologyCancer Biology

Edited by Charis Eng, Genomic Medicine Institute, Lerner Research Institute; Joanne Ngeow, National Cancer Centre Singapore; Vuk Stambolic, Princess Margaret Cancer Centre, UHN

Download a Free Excerpt from The PTEN Family:

Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations

© 2020 • 358 pages, illustrated (53 color and 3 B&W), index
Hardcover •
ISBN  978-1-621823-44-5

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  •     Description    
  •     Contents    


The PTEN protein is a phosphatase that plays important roles as a tumor suppressor by negatively regulating the PI3K/Akt signaling pathway that controls cell proliferation and survival. Impaired PTEN function leads to unrestrained downstream signaling and, in turn, uncontrolled cell growth and cancer. PTEN also has other roles: Recent work has implicated it in a variety of additional biological processes, including control of DNA replication and repair, and in disparate pathological conditions (e.g., autism).

Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine covers all aspects of PTEN biology and its roles in human diseases. The contributors discuss the structural characteristics of PTEN; its functions at the plasma membrane as well as in the cytoplasm and nucleus; the mutations, interacting partners, and posttranslational modifications that affect its expression levels, subcellular localization, and enzymatic activity; and how this activity ultimately leads to changes in cell growth, migration, and morphology, as well as in gene expression, chromatin dynamics, and the maintenance of genomic stability. A historical perspective that covers the initial discovery and subsequent characterization of PTEN is also included.

In addition, the authors discuss the loss of PTEN function in various cancers, as well as in immune, metabolic, and neurological disorders (e.g., autoimmunity, type 2 diabetes, and autism), and consider how this knowledge can be exploited for diagnostic and therapeutic purposes. This volume is therefore essential reading for all cell and molecular biologists, cancer biologists, and pharmacologists interested in PTEN’s remarkable biological complexity and importance in human health.


Discovery of the PTEN Tumor Suppressor and Its Connection to the PI3K and AKT Oncogenes
Ramon Parsons
Structural Mechanisms of PTEN Regulation
Glenn R. Masson and Roger L. Williams
Dual-Specific Protein and Lipid Phosphatase PTEN and Its Biological Functions
Taojian Tu, Jingyu Chen, Lulu Chen, and Bangyan L. Stiles
Posttranslational Regulation and Conformational Plasticity of PTEN
Larissa Kotelevets, Barbara Trifault, Eric Chastre, and Mark G.H. Scott
The Impact of Genetic Variants on PTEN Molecular Functions and Cellular Phenotypes
Nicholas Hasle, Kenneth A. Matreyek, and Douglas M. Fowler
PTEN Nuclear Functions
Jason Ho, Edward S. Cruise, Ryan J.O. Dowling, and Vuk Stambolic
The Complex Landscape of PTEN mRNA Regulation
Erin Sellars, Martino Gabra, and Leonardo Salmena
PTEN Mouse Models of Cancer Initiation and Progression
Yu-Ru Lee and Pier Paolo Pandolfi
PTEN as a Guardian of the Genome: Pathways and Targets
Xinyi Fan, Jeffrey Kraynak, Jonathan P.S. Knisely, Silvia C. Formenti, and Wen H. Shen
PTEN: Bridging Endocytosis and Signaling
Matthew F. Lee and Lloyd C. Trotman
PTEN in Chromatin Remodeling
Jingyi Yang and Yuxin Yin
PTEN in Hereditary and Sporadic Cancer
Joanne Ngeow and Charis Eng
PTEN in Regulating Hematopoiesis and Leukemogenesis
Yilin Wu, Haichuan Zhu, and Hong Wu
PTEN in the Stroma
Katie A. Thies, Julia E. Lefler, Gustavo Leone, and Michael C. Ostrowski
Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations
Thomas W. Frazier
Connecting Genotype with Behavioral Phenotype in Mouse Models of Autism Associated with PTEN Mutations
Amy E. Clipperton-Allen and Damon T. Page
PTEN in Autism and Neurodevelopmental Disorders
Sebastian Rademacher and Britta J. Eickholt
Metabolic Role of PTEN in Insulin Signaling and Resistance
Yu Zhe Li, Antonio Di Cristofano, and Minna Woo
The Role of PTEN in Innate and Adaptive Immunity
Henry Taylor, Arian D.J. Laurence, and Holm H. Uhlig
Toward Systems Pathology for PTEN Diagnostics
Nahal Haddadi, Glena Travis, Najah T. Nassif, Ann M. Simpson, and Deborah J. Marsh
Precise Immunodetection of PTEN Protein in Human Neoplasia
Rafael Pulido, Janire Mingo, Ayman Gaafar, Caroline E. Nunes-Xavier, Sandra Luna, Leire Torices, Javier C. Angulo, and José I. López