ArticleBiochemistry2015
Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.
Article in Biochemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Elucidating PTEN conformational dynamics and phosphatase regulation via integrative modeling and mutation prediction.Structure (London, England : 1993) · 2025Article
- Structural and Dynamic Effects of PTEN C-Terminal Tail Phosphorylation.Journal of chemical information and modeling · 2022Article
- Genetic analysis of daf-18/PTEN missense mutants for starvation resistance and developmental regulation during Caenorhabditis elegans L1 arrest.G3 (Bethesda, Md.) · 2022Article
- Shape shifting: The multiple conformational substates of the PTEN N-terminal PIPProtein science : a publication of the Protein Society · 2022Article
- The orchestrated signaling by PI3Kα and PTEN at the membrane interface.Computational and structural biotechnology journal · 2022Review
- Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.Genome medicine · 2021Article
- A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.PLoS genetics · 2021Article
- Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.The FEBS journal · 2020Article
- Structural Mechanisms of PTEN Regulation.Cold Spring Harbor perspectives in medicine · 2020Review
- Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.Journal of biomolecular structure & dynamics · 2019Article
- A pathogenic role for germline PTEN variants which accumulate into the nucleus.European journal of human genetics : EJHG · 2018Article
- Multiplex assessment of protein variant abundance by massively parallel sequencing.Nature genetics · 2018Article
- A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.American journal of human genetics · 2018Article
- PTEN proteoforms in biology and disease.Cellular and molecular life sciences : CMLS · 2017Review
- Defective phosphoinositide metabolism in autism.Journal of neuroscience research · 2017Review
- Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.Oncotarget · 2017Article
- PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders.Journal of computational biology : a journal of computational molecular cell biology · 2016Article
- Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.Proteins · 2016Article
- Systematic analysis of the PTEN 5' leader identifies a major AUU initiated proteoform.Open biology · 2016Article
- Mutations of KRAS/NRAS/BRAF predict cetuximab resistance in metastatic colorectal cancer patients.Oncotarget · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Phosphoinositides are membrane components that play critical regulatory roles in mammalian cells. The enzyme PTEN, which catalyzes the dephosphorylation of the phosphoinositide PIP3, is damaged in most sporadic tumors. Mutations in the PTEN gene have also been linked to autism spectrum disorders and other forms of delayed development. Here, human PTEN is shown to be on the cusp of unfolding under physiological conditions. Variants of human PTEN linked to somatic cancers and disorders on the autism spectrum are shown to be impaired in their conformational stability, catalytic activity, or both. Those variants linked only to autism have activity higher than the activity of those linked to cancers. PTEN-L, which is a secreted trans-active isoform, has conformational stability greater than that of the wild-type enzyme. These data indicate that PTEN is a fragile enzyme cast in a crucial role in cellular metabolism and suggest that PTEN-L is a repository for a critical catalytic activity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.