CAMSAP1 Published Research

CAMSAP1 Recognized as a “Disease Gene”

The following are CAMSAP1 published research articles. Consolidated below the publications are two separate powerpoint presentations (a simplified version and a more scientific version) that I have created to summarize the findings from these publications (created May 2018).

Cell Model Studies

Small Organism Model Studies

Caenorhabditis elegans (nematode)


Drosophila (fruitfly)

(CAMSAP1 = Patronin)

CAMSAP1 Rodent Model Studies

CAMSAP1 Published Research
Figure Developed by Dr. Jana Marcette via BLAST Sequencing
Brown Stars indicate where the CAMSAP1 gene was cut for our purposes in an attempt to create a knockout mouse model – these CRISPR/cas9 mutations were made to delete exons 2-3 (above).
Blue Star: Landon’s paternal mutation (frameshift) – variant p.T570YfsX17 | Coding DNA c.1707dupT | Heterozygous
Red Star: Landon’s maternal mutation (deletion) – variant p.Q1044X | Coding DNA c3130 C>T | Heterozygous
Note – relative loci of conserved domains CH, CC1, CC2, CC3, and CKK.

Other CAMSAP1 Published Research

CAMSAP1 Published Research
Landon’s autosomal recessively inherited parental mutations (similar to above image)


CAMSAP1 Simplified Presentation

CAMSAP1 Research Presentation (Medical Type)

(Note:  All Research and Images in the Presentation Credited to the Authors noted in the screenshot(s) of the abstracts)