| http://purl.uniprot.org/citations/29861105 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29861105 | http://www.w3.org/2000/01/rdf-schema#comment | "βIV spectrin links ankyrinG (AnkG) and clustered ion channels at axon initial segments (AISs) and nodes of Ranvier to the axonal cytoskeleton. Here, we report bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy. We introduced these variants into βIV spectrin, expressed these in neurons, and found that 5/7 were loss-of-function variants disrupting AIS localization or abolishing phosphoinositide binding. Nerve biopsies from an individual with a loss-of-function variant had reduced nodal Na+ channels and no nodal KCNQ2 K+ channels. Modeling the disease in mice revealed that although ankyrinR (AnkR) and βI spectrin can cluster Na+ channels and partially compensate for the loss of AnkG and βIV spectrin at nodes of Ranvier, AnkR and βI spectrin cannot cluster KCNQ2- and KCNQ3-subunit-containing K+ channels. Our findings define a class of spectrinopathies and reveal the molecular pathologies causing nervous-system dysfunction."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2018.04.012"xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Lee S."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Wang C.C."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "White A."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Rasband M.N."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Wierenga K.J."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Gaffney P.M."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Wiley G."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Ortiz-Gonzalez X.R."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Yum S.W."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Seaver L.H."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Gill S.M."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/author | "Kelter E."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/name | "Am J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/pages | "1158-1168"xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/title | "betaIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy."xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://purl.uniprot.org/core/volume | "102"xsd:string |
| http://purl.uniprot.org/citations/29861105 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29861105 |
| http://purl.uniprot.org/citations/29861105 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29861105 |
| http://purl.uniprot.org/uniprot/#_A0A087WNU5-mappedCitation-29861105 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29861105 |
| http://purl.uniprot.org/uniprot/#_A0A087WRP9-mappedCitation-29861105 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29861105 |
| http://purl.uniprot.org/uniprot/#_A0A087WRU2-mappedCitation-29861105 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29861105 |