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  • Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

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Cognitive and behavioural genetics
Original research
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

Authors

  • Lisa Pavinato Department of Medical Sciences, University of Turin, Torino, Italy Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany PubMed articlesGoogle scholar articles
  • Marina Villamor-Payà The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Maria Sanchiz-Calvo The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Cristina Andreoli Department of Environment and Health, Istituto Superiore di Sanità, Roma, Italy PubMed articlesGoogle scholar articles
  • Marina Gay The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Marta Vilaseca The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Gianluca Arauz-Garofalo The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Andrea Ciolfi Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  • Alessandro Bruselles Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy PubMed articlesGoogle scholar articles
  • Tommaso Pippucci Medical Genetics Unity, Sant'Orsola-Malpighi University Hospital, Bologna, Italy PubMed articlesGoogle scholar articles
  • Valentina Prota Department of Environment and Health, Istituto Superiore di Sanità, Roma, Italy PubMed articlesGoogle scholar articles
  • Diana Carli Department of Pediatrics and Public Health and Pediatric Sciences, University of Turin, Torino, Italy PubMed articlesGoogle scholar articles
  • Elisa Giorgio Department of Medical Sciences, University of Turin, Torino, Italy Department of Molecular Medicine, University of Pavia, Pavia, Italy PubMed articlesGoogle scholar articles
  • Francesca Clementina Radio Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  • Vincenzo Antona Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy PubMed articlesGoogle scholar articles
  • Mario Giuffrè Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy PubMed articlesGoogle scholar articles
  • Kara Ranguin Department of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France PubMed articlesGoogle scholar articles
  • Cindy Colson Department of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France PubMed articlesGoogle scholar articles
  • Silvia De Rubeis Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York City, New York, USA The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA PubMed articlesGoogle scholar articles
  • Paola Dimartino Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy PubMed articlesGoogle scholar articles
  • Joseph D Buxbaum Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York City, New York, USA The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City, New York, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York City, New York, USA PubMed articlesGoogle scholar articles
  • Giovanni Battista Ferrero Department of Pediatrics and Public Health and Pediatric Sciences, University of Turin, Torino, Italy PubMed articlesGoogle scholar articles
  • Marco Tartaglia Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  • Simone Martinelli Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy PubMed articlesGoogle scholar articles
  • Travis H Stracker The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain Radiation Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Alfredo Brusco Department of Medical Sciences, University of Turin, Torino, Italy Unit of Medical Genetics, "Città della Salute e della Scienza" University Hospital, Torino, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Alfredo Brusco, Department of Medical Sciences, University of Turin, Torino 10124, Italy; alfredo.brusco{at}unito.it
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Citation

Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, et al
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Journal of Medical Genetics 2022;59:170-179.

Publication history

  • Received June 16, 2020
  • Revised October 19, 2020
  • Accepted November 14, 2020
  • First published December 15, 2020.
Online issue publication 
January 21, 2022

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