Neuronal Roles of the Bicaudal D Family of Motor Adaptors

Budzinska, Marta I.; Zernicka-Goetz, Magdalena; Terenzio, Marco

doi:10.1016/bs.vh.2016.11.005

Cited by 7 publications

(5 citation statements)

References 80 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BICD is a dynein adaptor protein leading to the minus end of microtubule-directed cargo transport 68 . According to previous reports, BICD has the capacity to transport various kinds of cargo, such as Rab6dependent vesicles, viral genome, nucleus, and several proteins [69][70][71][72][73] . Recently, it was reported that BICD1 is an interacting partner of HIF1α-regulating dynein-mediated nuclear translocation and that hypoxia activates BICD1induced HIF1α via the Akt/GSK3β pathway for hypoxiainduced glycolytic reprogramming of UCB-MSCs 74 .…”

Section: Discussionmentioning

confidence: 99%

O-cyclic phytosphingosine-1-phosphate stimulates HIF1α-dependent glycolytic reprogramming to enhance the therapeutic potential of mesenchymal stem cells

et al. 2019

View full text Add to dashboard Cite

O-cyclic phytosphingosine-1-phosphate (cP1P) is a novel chemically synthesized sphingosine metabolite derived from phytosphingosine-1-phosphate. Although structurally similar to sphingosine-1-phosphate (S1P), its biological properties in stem cells remain to be reported. We investigated the effect of cP1P on the therapeutic potential of mesenchymal stem cells (MSCs) and their regulatory mechanism. We found that, under hypoxia, cP1P suppressed MSC mitochondrial dysfunction and apoptosis. Metabolic data revealed that cP1P stimulated glycolysis via the upregulation of glycolysis-related genes. cP1P-induced hypoxia-inducible factor 1 alpha (HIF1α) plays a key role for MSC glycolytic reprogramming and transplantation efficacy. The intracellular calcium-dependent PKCα/mammalian target of the rapamycin (mTOR) signaling pathway triggered by cP1P regulated HIF1α translation via S6K1, which is critical for HIF1 activation. Furthermore, the cP1P-activated mTOR pathway induced bicaudal D homolog 1 expression, leading to HIF1α nuclear translocation. In conclusion, cP1P enhances the therapeutic potential of MSC through mTOR-dependent HIF1α translation and nuclear translocation.

show abstract

Section: Discussionmentioning

confidence: 99%

O-cyclic phytosphingosine-1-phosphate stimulates HIF1α-dependent glycolytic reprogramming to enhance the therapeutic potential of mesenchymal stem cells

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Other activating adaptors include BICD2 and Hook proteins 3 . BICD2 is the bestcharacterized member of the mammalian BICD family of proteins (BICD1, BICD2, BICDR1 and BICDR2) and is a potent enhancer of minus-end-directed transport, substantially increasing processivity of the dynein-dynactin complex [28][29][30] . The BICD family, like other activating adaptors, feature coiled-coil domains [G], which are vital for their interaction with the dynein-dynactin complex 26 .…”

Section: [H1] Introductionmentioning

confidence: 99%

Axonal transport and neurological disease

et al. 2019

View full text Add to dashboard Cite

Axonal transport is the process whereby motor proteins actively navigate microtubules to deliver diverse cargoes, such as organelles, from one end of the axon to the other, and is widely regarded as essential for nerve development, function and survival.Mutations in genes encoding key components of the transport machinery, including motor proteins, motor adaptors and microtubules, have been discovered to cause neurological disease.Moreover, disruptions in axonal cargo trafficking have been extensively reported across a wide range of nervous system disorders. However, whether these impairments have a major causative role in, are contributing to, or are simply a consequence of neuronal degeneration remains unclear. Thus, the fundamental relevance of defective trafficking along axons to nerve dysfunction and pathology is often debated. In this article, we review the latest evidence emerging from human and in vivo studies on whether perturbations in axonal transport are indeed integral to the pathogenesis of neurological disease.

show abstract

“…A common characteristic of this protein family is the presence of multiple coiled-coil domains, which allow for binding to a diverse set of cargos and their coupling with the dynein and dynactin motor complex [9,10]. BICD proteins are critical regulators of the minus end-directed transport of various intracellular organelles [11,12]. Recently, a member of the BICD family, BICD2, has been genetically linked to human disease [13][14][15][16][17].…”

Section: Of 10mentioning

confidence: 99%

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

Hirsch¹,

Chung

Novoselov

et al. 2023

IJMS

View full text Add to dashboard Cite

Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashkenazi Jewish family. Moreover, we assessed the production of the candidate protein via western blotting of lysates from fibroblasts from an affected individual and an unaffected control. Pathogenic variants in known disease genes associated with hearing loss and peripheral neuropathy were excluded. A homozygous frameshift variant in the BICD1 gene, c.1683dup (p.(Arg562Thrfs*18)), was identified in the proband and segregated with hearing loss and peripheral neuropathy in the family. The BIDC1 RNA analysis from patient fibroblasts showed a modest reduction in gene transcripts compared to the controls. In contrast, protein could not be detected in fibroblasts from a homozygous c.1683dup individual, whereas BICD1 was detected in an unaffected individual. Our findings indicate that bi-allelic loss-of-function variants in BICD1 are associated with hearing loss and peripheral neuropathy. Definitive evidence that bi-allelic loss-of-function variants in BICD1 cause peripheral neuropathy and hearing loss will require the identification of other families and individuals with similar variants with the same phenotype.

show abstract

Neuronal Roles of the Bicaudal D Family of Motor Adaptors

Cited by 7 publications

References 80 publications

O-cyclic phytosphingosine-1-phosphate stimulates HIF1α-dependent glycolytic reprogramming to enhance the therapeutic potential of mesenchymal stem cells

O-cyclic phytosphingosine-1-phosphate stimulates HIF1α-dependent glycolytic reprogramming to enhance the therapeutic potential of mesenchymal stem cells

Axonal transport and neurological disease

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

Contact Info

Product

Resources

About