A gain‐of‐function mutation in the ITPR1 gating domain causes male infertility in mice
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30783
Abstract: Inositol 1,4,5‐trisphosphate receptor 1 (ITPR1) is an intracellular Ca2+ release channel critical for numerous cellular processes. Despite its ubiquitous physiological significance, ITPR1 mutations have thus far been linked to primarily movement disorders. Surprisingly, most disease‐associated… read more here.
Keywords: function; gain function; gating domain; itpr1 gating ... See more keywords
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8545-5
Abstract: We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant spinocerebellar ataxia characterized by early motor delay, poor coordination, gait ataxia, and… read more here.
Keywords: spinocerebellar ataxia; ca2 signal; function; itpr1 ... See more keywords
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.54
Abstract: Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. We investigated the cause of autosomal recessive, congenital SCA in six… read more here.
Keywords: sca29; autosomal recessive; missense variant; cerebellar hypoplasia ... See more keywords
Decreased GZMB, NRP1, ITPR1, and SERPINB9 Transcripts Lead to Reduced Regulatory T Cells Suppressive Capacity in Generalized Vitiligo Patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Immunology Research"
DOI: 10.1155/2022/3426717
Abstract: Generalized vitiligo (GV) is an autoimmune skin disease characterized by bilateral white patches over the entire body. Regulatory T cells (Tregs) maintain peripheral tolerance; however, they are found to be reduced in numbers and function… read more here.
Keywords: gzmb nrp1; serpinb9; itpr1; suppressive capacity ... See more keywords
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23126723
Abstract: The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with… read more here.
Keywords: cerebellar atrophy; itpr1 related; related disorders; itpr1 ... See more keywords