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Here we show that the X-linked intellectual disability protein interleukin-1 receptor accessory protein like 1 (IL1RAPL1) regulates dendrite morphology of mice hippocampal neurons and induced pluripotent stem cell-derived neurons from a patient carrying a null mutation of IL1RAPL1 gene.
These results thus reveal the decoding mechanism of splice-insert signaling codes for synaptic differentiation induced by trans-synaptic adhesion between PTPdelta and IL1RAPL1/IL-1RAcP (显示 IL1RAP 蛋白).
These results suggest that IL1RAPL1 ablation resulted in spine density decrease and affected not only learning but also behavioural flexibility, locomotor activity and anxiety.
It was indicated that a defect in IL1RAPL1 that controls excitatory synapsis formation results in the excitation-inhibition balance affecting various cerebral functions.
IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA (显示 RHOA 蛋白) signaling pathway.
the results of this study suggested that constitutive absence of Il1rapl1 disrupts this balance, possibly explaining the deficit in LTP (显示 SCP2 蛋白) induction in vivo and the behavioral deficits observed in KO mice.
results suggest that IL1RAPL1 mediates synapse formation through trans-synaptic interaction with PTPdelta.
Absence of IL1RAPL1 causes a transient disinhibition of deep cerebellar nuclei neurons between postnatal days 10 and 14.
Altered DNA methylation (显示 HELLS 蛋白) in IL1RAPL1 involves in the etiology of Bipolar disorder and Major Depressive disorder .
rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 (显示 IL13 蛋白) production in Latin American children.
Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling.
The IL1RAPL1 gene is of interest as a candidate gene for autism spectrum disorder as mutations or deletions in the gene have previously been reported in individuals from families with ASD (显示 ARSD 蛋白).
Nearly all patients with deletions involving DAX1 (显示 NR0B1 蛋白), but not DMD (显示 DMD 蛋白), had mental retardation if IL1RAPL1 was deleted. If ILIRAPLI & DMD (显示 DMD 蛋白) were intact, the patients with DAX1 (显示 NR0B1 蛋白) deletions only rarely had normal development.
Report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males.
DMD (显示 DMD 蛋白) gene and its immediately distal neighbor, the 1.8 Mb IL1RAPL1 gene are abundantly expressed in normal brain but were dramatically underexpressed in every brain tumor cell line and xenograft.
The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.
, X-linked interleukin-1 receptor accessory protein-like 1
, interleukin-1 receptor accessory protein-like 1
, interleukin 1 receptor accessory protein-like 1
, interleukin 1 receptor-8
, mental retardation, X-linked 10
, three immunoglobulin domain-containing IL-1 receptor-related 2
, interleukin 1-receptor accessory protein-like 1a
, interleukin-1 receptor accessory protein-like 1-A