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 Mar 10;814:146144. doi: 10.1016/j.gene.2021.146144. Epub 2022 Jan 4.
The function of the HERC1 gene has mainly been delineated by studying Herc1 (tambaleante) mutant mice, characterized by losses in cerebellar Purkinje cells, a lower number of synaptic vesicles in the hippocampus, and anomalies in climbing fiber projections from the inferior olive as well as alpha-motoneuron projections to the skeletal muscle. The salient behavioral phenotypes include cerebellar ataxia, a loss in motor coordination, muscle weakness, and spatial deficits. Similar neuropathological and behavioral profiles have been described in childhood-onset subjects with HERC1 variants, including cerebellar ataxia and hypotonia.
HERC1 基因的功能主要通过研究 Herc1（tambaleante）突变小鼠来描绘，其特征是小脑浦肯野细胞丢失、海马突触小泡数量减少、下橄榄从 climbing fiber 到 alpha-motoneuron 的投射异常以及到骨骼肌的投射异常。显著的行为表型包括小脑共济失调、运动协调丧失、肌肉无力和空间缺陷。在具有 HERC1 变异的儿童发病患者中，也描述了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。
