IL1RAPL1

Publications

Bhat SS et al. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. Clin Genet. 2008;73(1):94–96. PMID: 18005360.

Carrie A et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 1999;23:25e31. PMID: 10471494.

Franek KJ et al. Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. Am J Med Genet A. 2011;155A:1109e14. PMID: 21484992.

Houbaert X et al. Target-specific vulnerability of excitatory synapses leads to deficits in associative memory in a model of intellectual disorder. J Neurosci 2013;33(34):13805–13819. PMID: 23966701.

Leprêtre F et al. Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation. Cytogenet Genome Res. 2003;101(2)124–129. PMID: 14610352.

Montani C et al. The X-linked intellectual disability protein IL1RAPL1 regulates dendrite complexity. J Neurosci. 2017;37(28):6606–6627. PMID: 28576939

Montani C et al. The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1). Dev Neurobiol. 2019;79(1):85-95. PMID: 30548231.

Nawara M et al. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. Am J Med Genet A. 2008;146A:3167e72. PMID: 19012350

Pavlowsky A et al. A postsynaptic signalling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Curr Biol. 2010;20(2):103–115. PMID: 20096586.

Piton A et al. Mutations in the calciumrelated gene IL1RAPL1 are associated with autism. Hum Mol Genet. 2008;17:3965e74. PMID: 18801879.

Ramos-Brossier M et al. Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. Hum Mol Genet. 2015;24(4):1106–1118. PMID: 25305082.

Tabolacci E et al. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am J Med Genet A. 2006;140:482e7. PMID: 16470793.

Valnegri P et al. The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPdelta and RhoGAP2. Hum Mol Genet. 2011;20:4797e809. PMID: 21926414.