Searching across hundreds of databases

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth.

The Journal of cell biology | 2018

KIF1Bβ is a kinesin-3 family anterograde motor protein essential for neuronal development, viability, and function. KIF1Bβ mutations have previously been reported in a limited number of pedigrees of Charcot-Marie-Tooth disease type 2A (CMT2A) neuropathy. However, the gene responsible for CMT2A is still controversial, and the mechanism of pathogenesis remains elusive. In this study, we show that the receptor tyrosine kinase IGF1R is a new direct binding partner of KIF1Bβ, and its binding and transport is specifically impaired by the Y1087C mutation of KIF1Bβ, which we detected in hereditary neuropathic patients. The axonal outgrowth and IGF-I signaling of Kif1b-/- neurons were significantly impaired, consistent with decreased surface IGF1R expression. The complementary capacity of KIF1Bβ-Y1087C of these phenotypes was significantly impaired, but the binding capacity to synaptic vesicle precursors was not affected. These data have supported the relevance of KIF1Bβ in IGF1R transport, which may give new clue to the neuropathic pathogenesis.

Pubmed ID: 30126838 RIS Download

Associated grants

None

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

This is a list of tools and resources that we have found mentioned in this publication.


MetaMorph Microscopy Automation and Image Analysis Software (tool)

RRID:SCR_002368

Software tool for automated microscope acquisition, device control, and image analysis. Used for integrating dissimilar fluorescent microscope hardware and peripherals into a single custom workstation, while providing all the tools needed to perform analysis of acquired images. Offers user friendly application modules for analysis such as cell signaling, cell counting, and protein expression.

View all literature mentions

RefSeq (tool)

RRID:SCR_003496

Collection of curated, non-redundant genomic DNA, transcript RNA, and protein sequences produced by NCBI. Provides a reference for genome annotation, gene identification and characterization, mutation and polymorphism analysis, expression studies, and comparative analyses. Accessed through the Nucleotide and Protein databases.

View all literature mentions

PRISM (tool)

RRID:SCR_005375

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 5,2022.Tool that predicts interactions between transcription factors and their regulated genes from binding motifs. Understanding vertebrate development requires unraveling the cis-regulatory architecture of gene regulation. PRISM provides accurate genome-wide computational predictions of transcription factor binding sites for the human and mouse genomes, and integrates the predictions with GREAT to provide functional biological context. Together, accurate computational binding site prediction and GREAT produce for each transcription factor: 1. putative binding sites, 2. putative target genes, 3. putative biological roles of the transcription factor, and 4. putative cis-regulatory elements through which the factor regulates each target in each functional role.

View all literature mentions

Progen (tool)

RRID:SCR_006726

Antibody and density gradient media supplier.

View all literature mentions

C57BL/6N (tool)

RRID:MGI:2159965

laboratory mouse with name C57BL/6N from MGI.

View all literature mentions

HEK293-A (tool)

RRID:CVCL_6910

Cell line HEK293-A is a Transformed cell line with a species of origin Homo sapiens (Human)

View all literature mentions

HEK293 (tool)

RRID:CVCL_0045

Cell line HEK293 is a Transformed cell line with a species of origin Homo sapiens (Human)

View all literature mentions

C57BL/6J (tool)

RRID:IMSR_JAX:000664

Mus musculus with name C57BL/6J from IMSR.

View all literature mentions

anti-KIF1Balpha (antibody)

RRID:AB_2732865

This polyclonal targets KIF1Balpha

View all literature mentions

anti-KIF1Bbeta (antibody)

RRID:AB_2571746

This polyclonal targets KIF1Bbeta

View all literature mentions

Anti-β-Actin Antibody (antibody)

RRID:AB_476744

This monoclonal targets slightly modified β-cytoplasmic actin N-terminal peptide, Ac-Asp-Asp-Asp-Ile-Ala-Ala-Leu-Val-Ile-Asp-Asn-Gly-Ser-Gly-Lys, conjugated to KLH

View all literature mentions

Akt Antibody (antibody)

RRID:AB_329827

This polyclonal targets Akt

View all literature mentions

anti-DDDDK-tag (antibody)

RRID:AB_11123930

This monoclonal targets anti-DDDDK-tag

View all literature mentions

Anti-α-Tubulin antibody (antibody)

RRID:AB_477593

This monoclonal targets α-Tubulin

View all literature mentions

Monoclonal Anti-beta-Tubulin Isotype III antibody produced in mouse (antibody)

RRID:AB_532291

This monoclonal targets beta-Tubulin Isotype III antibody produced in mouse

View all literature mentions

IGF-I Receptor beta Antibody (antibody)

RRID:AB_2122378

This polyclonal targets Igf1r

View all literature mentions

IGF-IRalpha (G-5) (antibody)

RRID:AB_10650003

This monoclonal targets IGF-IRalpha (G-5)

View all literature mentions

anti-KIF1Balpha (antibody)

RRID:AB_2732865

This polyclonal targets KIF1Balpha

View all literature mentions

anti-KIF1Bbeta (antibody)

RRID:AB_2571746

This polyclonal targets KIF1Bbeta

View all literature mentions

Anti-β-Actin Antibody (antibody)

RRID:AB_476744

This monoclonal targets slightly modified β-cytoplasmic actin N-terminal peptide, Ac-Asp-Asp-Asp-Ile-Ala-Ala-Leu-Val-Ile-Asp-Asn-Gly-Ser-Gly-Lys, conjugated to KLH

View all literature mentions

Akt Antibody (antibody)

RRID:AB_329827

This polyclonal targets Akt

View all literature mentions

anti-DDDDK-tag (antibody)

RRID:AB_11123930

This monoclonal targets anti-DDDDK-tag

View all literature mentions

Anti-α-Tubulin antibody (antibody)

RRID:AB_477593

This monoclonal targets α-Tubulin

View all literature mentions

Monoclonal Anti-beta-Tubulin Isotype III antibody produced in mouse (antibody)

RRID:AB_532291

This monoclonal targets beta-Tubulin Isotype III antibody produced in mouse

View all literature mentions

IGF-I Receptor beta Antibody (antibody)

RRID:AB_2122378

This polyclonal targets Igf1r

View all literature mentions

IGF-IRalpha (G-5) (antibody)

RRID:AB_10650003

This monoclonal targets IGF-IRalpha (G-5)

View all literature mentions