splicing. Nat Struct Mol Biol. 2022 Nov;29(11):1043-1055.[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892.[4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...
[4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103. [5]Dietrich P, Dragatsis I. Familial Dysautonomia: Mechanisms and Models. Genet Mol Biol. 2016 Oct-Dec;39(4):497-514. doi...
Translational regulationRAD51-dependent homologous recombination (HR) is one of the most important pathways for repairing DNA double-strand breaks (DSBs), and its regulation is crucial to maintain genome integrity. Elp1 gene encodes IKAP/ELP1, a core subunit of the Elongator complex, which has ...
Gene Name: IKBKAP ELP1 IKAP Protein Name: ELP1 Human Gene Id: 8518 Swiss-Prot: O95163 Formulation: Liquid in PBS containing 50% glycerol, 05% BSA and 002% sodium azide Source: Rabbit Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific ...
mutation in the inhibitor of kappa B kinase complex-associated protein (IKAP, also called ELP1) gene IKBKAP/ELP1, a component of the Elongator complex... U Yumi,S Veronika,L Frances - 《Disease Models & Mechanisms》 被引量: 0发表: 2018年 Elp1p, the Yeast Homolog of the FD Disease Syn...
Mouse Ikbkap gene encodes IKAP—one of the core subunits of Elongator—and is thought to be involved in transcription. However, the biological function of IKAP, particularly within the context of an animal model, remains poorly characterized. We used a loss-of-function approach in mice to demons...
[3]Lord J, Baralle D. Splicing in the Diagnosis of Rare Disease: Advances and Challenges. Front Genet. 2021 Jul 1;12:689892. [4]Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103...