Abstract

An initial screen to identify novel ZASP interactors has been completed. Select interactions have been validated using pairwise yeast two-hybrid assays, co-immunoprecipitation, pulldown, and colocalization methods. Electroporation of cDNA into mouse skeletal muscle has been successfully accomplished, and effects of WT and mutant ZASP on mouse muscle have been analyzed. ZASP proteins have been purified and used in in vitro assays to determine their activity on select protein interactors. Transgenic mice are under development. We have enrolled 12 subjects with Duchenne muscular dystrophy (DMD) and 6 healthy volunteer boys to the DMD Imaging study (protocol ID 11-N-0261).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIANS003131-01
Application #
8557097
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
2012
Total Cost
$281,146
Indirect Cost

  Institution

Name
National Institute of Neurological Disorders and Stroke
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Todd, Joshua J; Razaqyar, Muslima S; Witherspoon, Jessica W et al. (2018) Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. Front Neurol 9:118
Jerath, Nivedita U; Mankodi, Ami; Crawford, Thomas O et al. (2018) Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle Nerve 57:749-755
Watts, Norman R; Zhuang, Xiaolei; Kaufman, Joshua D et al. (2017) Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. Biochemistry 56:2061-2070
Kovacs, William; Hsieh, Nathan; Roth, Holger et al. (2017) Holistic segmentation of the lung in cine MRI. J Med Imaging (Bellingham) 4:041310
Mankodi, Ami; Kovacs, William; Norato, Gina et al. (2017) Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy. Ann Clin Transl Neurol 4:655-662
Mankodi, Ami; Azzabou, Noura; Bulea, Thomas et al. (2017) Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy. Neuromuscul Disord 27:705-714
Gaur, Lasya; Hanna, Alexander; Bandettini, W Patricia et al. (2016) Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy. Ann Clin Transl Neurol 3:948-955
Mankodi, Ami; Bishop, Courtney A; Auh, Sungyoung et al. (2016) Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy. Neuromuscul Disord 26:650-658
Mankodi, Ami; Grunseich, Christopher; Skov, Martin et al. (2015) Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy. Neuromuscul Disord 25:908-12
Mankodi, Ami; Grunseich, Christopher (2015) Toe-extension myotonia in myotonic dystrophy type 1. Neurology 85:203

Showing the most recent 10 out of 18 publications