4.8 Review

Perspective A matter of space and time: Emerging roles of disease-associated proteins in neural development

Journal

NEURON
Volume 110, Issue 2, Pages 195-208

Publisher

CELL PRESS
DOI: 10.1016/j.neuron.2021.10.035

Keywords

-

Categories

Funding

  1. UCSF Program for Breakthrough Biomedical Research
  2. Sandler Foundation
  3. Stanford Brain Organogenesis (Wu Tsai Neurosci-ences Institute)
  4. Bio-X, a New York Stem Cell Foundation-Robertson Investi-gator Award
  5. Chan Zuckerberg Ben Barres Investigator Award
  6. NIH [R01 MH115012, R01 MH125004, R56 MH127075]

Ask authors/readers for more resources

Recent genetic studies suggest that synaptic proteins and ion channels play a crucial role in the development of neurodevelopmental disorders. New evidence indicates that these proteins may have novel functions in immature cells during prenatal development. Advanced techniques, such as single-cell sequencing and human cellular models of disease, have provided insights into the expression and localization of these proteins in the developing brain compared to adults.
Recent genetic studies of neurodevelopmental disorders point to synaptic proteins and ion channels as key contributors to disease pathogenesis. Although many of these proteins, such as the L-type calcium channel Cav1.2 or the postsynaptic scaffolding protein SHANK3, have well-studied functions in mature neurons, new evidence indicates that they may subserve novel, distinct roles in immature cells as the nervous system is assembled in prenatal development. Emerging tools and technologies, including single-cell sequencing and human cellular models of disease, are illuminating differential isoform utilization, spatiotemporal expression, and subcellular localization of ion channels and synaptic proteins in the developing brain compared with the adult, providing new insights into the regulation of developmental processes. We propose that it is essential to consider the temporally distinct and cell-specific roles of these proteins during development and maturity in our framework for understanding neuropsychiatric disorders.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.8
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available