The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPd and RhoGAP2

نویسندگان

  • Pamela Valnegri
  • Chiara Montrasio
  • Dario Brambilla
  • Jaewon Ko
  • Maria Passafaro
  • Carlo Sala
چکیده

CNR Institute of Neuroscience and Department of Pharmacology, University of Milan, 20129 Milan, Italy, Dulbecco Telethon Institute, Rome, Italy, Department of Human Physiology, University of Milan, 20133 Milan, Italy, Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-749, South Korea and Neuromuscular Diseases and Neuroimmunology, Neurological Institute Foundation ‘Carlo Besta’, 20133 Milan, Italy

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The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2

Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-syndromic X-linked mental retardation to autism. IL1RAPL1 belongs to a novel family of IL1/Toll receptors, which is localized at excitatory synapses and interacts with PSD-95. We previously showed that IL1RAPL1 regulates the synaptic localization of PSD-95 b...

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IL-1 receptor accessory protein-like 1 (IL1RAPL1) is responsible for nonsyndromic intellectual disability and is associated with autism. IL1RAPL1 mediates excitatory synapse formation through trans-synaptic interaction with PTPδ. Here, we showed that the spine density of cortical neurons was significantly reduced in IL1RAPL1 knockout mice. The spatial reference and working memories and remote f...

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Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability (ID) and autism spectrum disorder. This protein interacts with synaptic partners like PSD-95 and PTPδ, regulating the formation and function of excitatory synapses. The aim of this work was to characterize the synaptic consequences of three IL1RAPL1 mutati...

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تاریخ انتشار 2011