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   Articles with "bicd2" as a keyword



Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype.

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recommendations! Published in 2018 at "Autoimmunity reviews"

DOI: 10.1016/j.autrev.2018.01.006

Abstract: We studied the clinical correlations and epitopes of autoantibodies directed to a novel autoantigen, Bicaudal D (BICD2), in systemic sclerosis (SSc) and reviewed its relationship to centromere protein A (CENP-A). 451 SSc sera were tested… read more here.

Keywords: autoantibody; ssc; systemic sclerosis; anti bicd2 ... See more keywords

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

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recommendations! Published in 2024 at "Human Genome Variation"

DOI: 10.1038/s41439-024-00290-z

Abstract: Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de… read more here.

Keywords: missense bicd2; arthrogryposis; bicd2; bicd2 variants ... See more keywords

Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo

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recommendations! Published in 2019 at "Acta Neuropathologica Communications"

DOI: 10.1186/s40478-019-0827-y

Abstract: For the proper organization of the six-layered mammalian neocortex it is required that neurons migrate radially from their place of birth towards their designated destination. The molecular machinery underlying this neuronal migration is still poorly… read more here.

Keywords: migration; upper layer; radial migration; cortical neurons ... See more keywords

Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders

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recommendations! Published in 2023 at "PLOS Genetics"

DOI: 10.1371/journal.pgen.1010642

Abstract: Bicaudal D2 (BICD2) is responsible for recruiting cytoplasmic dynein to diverse forms of subcellular cargo for their intracellular transport. Mutations in the human BICD2 gene have been found to cause an autosomal dominant form of… read more here.

Keywords: bicd2; nesprin ranbp2; brain; brain developmental ... See more keywords

The BICD2 dynein cargo adaptor binds to the HPV16 L2 capsid protein and promotes HPV infection

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recommendations! Published in 2024 at "PLOS Pathogens"

DOI: 10.1371/journal.ppat.1012289

Abstract: During entry, human papillomavirus (HPV) traffics from the endosome to the trans Golgi network (TGN) and Golgi and then the nucleus to cause infection. Although dynein is thought to play a role in HPV infection,… read more here.

Keywords: bicd2; dynein; dynein cargo; infection ... See more keywords