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Author Notes:

Address correspondence to: Victor Faundez, ORCID # 0000-0002-2114-5271, Department of Cell Biology, Emory University School of Medicine, 615 Michael Street, Room 446, Atlanta, GA 30322, vfaunde@emory.edu

We are indebted to the Faundez lab members for their comments in particular Chelsea Lee for expert editing.

The authors declare no conflict of interest.

Subjects:

Research Funding:

This work was supported by grants from the Emory Catalyst Award and National Institutes of Health to V.F. (NS42599), DKD (NS091546), and GJP (GM060992 and DK103632).

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Developmental Biology
  • Neurosciences
  • Neurosciences & Neurology
  • BLOC-1
  • dysbindin
  • BORCS7
  • cilium
  • schizophrenia
  • LYSOSOME-RELATED ORGANELLES
  • SCHIZOPHRENIA SUSCEPTIBILITY GENE
  • HERMANSKY-PUDLAK-SYNDROME
  • CLATHRIN-MEDIATED ENDOCYTOSIS
  • 22Q11.2 DELETION SYNDROME
  • DORSOLATERAL PREFRONTAL CORTEX
  • DEVELOPING CEREBRAL-CORTEX
  • DYSBINDIN-1 MESSENGER-RNA
  • EXOME SEQUENCING REVEALS
  • MEMBRANE-FUSION

Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes

Tools:

Journal Title:

Developmental Neurobiology

Volume:

Volume 78, Number 3

Publisher:

, Pages 311-330

Type of Work:

Article | Post-print: After Peer Review

Abstract:

The biogenesis of lysosome-related organelles complex-1 (BLOC-1) and the bloc-one-related complex (BORC) are the cytosolic protein complexes required for specialized membrane protein traffic along the endocytic route and the spatial distribution of endosome-derived compartments, respectively. BLOC-1 and BORC complex subunits and components of their interactomes have been associated with the risk and/or pathomechanisms of neurodevelopmental disorders. Thus, cellular processes requiring BLOC-1 and BORC interactomes have the potential to offer novel insight into mechanisms underlying behavioral defects. We focus on interactions between BLOC-1 or BORC subunits with the actin and microtubule cytoskeleton, membrane tethers, and SNAREs. These interactions highlight requirements for BLOC-1 and BORC in membrane movement by motors, control of actin polymerization, and targeting of membrane proteins to specialized cellular domains such as the nerve terminal and the primary cilium. We propose that the endosome–primary cilia pathway is an underappreciated hub in the genesis and mechanisms of neurodevelopmental disorders. © 2017 Wiley Periodicals, Inc. Develop Neurobiol 78: 311–330, 2018.

Copyright information:

© 2017 Wiley Periodicals, Inc.

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