University of Rouen, Dept Psychology, 76821 Mont-Saint-Aignan, France; Laboratory of Stress, Immunity, Pathogens (EA7300), University of Lorraine Medical School, Vandœuvre-les-Nancy, France.
Laboratory of Stress, Immunity, Pathogens (EA7300), University of Lorraine Medical School, Vandœuvre-les-Nancy, France; CHRU Nancy, Vandœuvre-les-Nancy, France.
Gene. 2022 Jan 30;809:146001. doi: 10.1016/j.gene.2021.146001. Epub 2021 Oct 9.
The function of the Agtpbp1 gene has mainly been delineated by studying Agtpbp1 (pcd) mutant mice, characterized by losses in cerebellar Purkinje and granule cells along with degeneration of retinal photoreceptors, mitral cells of the olfactory bulb, thalamic neurons, and alpha-motoneurons. As a result of cerebellar degeneration, cerebellar GABA and glutamate concentrations in Agtpbp1 mutants decreased while monoamine concentrations increased. The salient behavioral phenotypes include cerebellar ataxia, a loss in motor coordination, and cognitive deficits. Similar neuropathogical and behavioral profiles have been described in childhood-onset human subjects with biallelic variants of AGTPBP1, including cerebellar ataxia and hypotonia.
Agtpbp1(pcd) 突变小鼠的研究主要阐明了 Agtpbp1 基因的功能，其特征是小脑浦肯野细胞和颗粒细胞缺失，视网膜光感受器、嗅球僧帽细胞、丘脑神经元和α运动神经元退化。由于小脑退化，Agtpbp1 突变体中的小脑 GABA 和谷氨酸浓度降低，而单胺浓度升高。显著的行为表型包括小脑共济失调、运动协调丧失和认知缺陷。具有 AGTPBP1 双等位基因突变的儿童发病的人类患者也具有类似的神经病理学和行为特征，包括小脑共济失调和张力减退。
