The function of the Core B Unit is the integration of the scientific activities of the Program Project, thus relating directly to the communal needs of the four individual projects. These needs include three centralized technical facilities (the tissue culture laboratory run by Dr. De Vivo, the muscle histochemistry lab run by Dr. Tanji, the biochemistry laboratory run by Drs. Naini and Krishna, and the diagnostic molecular neurogenetics laboratory run by Drs. Naini), supplies (e.g. ice and liquid nitrogen), and service contracts. The professional personnel of Core B includes the Program Director (Dr. Ali Naini), and the personnel of three laboratories providing communal services: the muscle histochemistry lab (Dr. Tanji and Ms. Huang), the biochemistry lab (Drs. DiMauro, Shanske, and Krishna), the molecular genetic lab (Drs. Naini and Lu), and the tissue culture laboratory (Dr. De Vivo and Ms. Stiner). The Program Director and Co- Director will oversee all activities of the Core Unit.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
1P01HD080642-01
Application #
8741704
Study Section
Developmental Biology Subcommittee (CHHD)
Project Start
Project End
Budget Start
2014-09-30
Budget End
2015-05-31
Support Year
1
Fiscal Year
2014
Total Cost
Indirect Cost
Name
Columbia University (N.Y.)
Department
Type
DUNS #
City
New York
State
NY
Country
United States
Zip Code
10032
Wang, Dan; Li, Jia; Song, Chun-Qing et al. (2018) Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice. Nat Biotechnol 36:839-842
Hirano, Michio; Emmanuele, Valentina; Quinzii, Catarina M (2018) Emerging therapies for mitochondrial diseases. Essays Biochem 62:467-481
Raghavan, Neha S; Brickman, Adam M; Andrews, Howard et al. (2018) Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol 5:832-842
Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth et al. (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-3312
Garone, Caterina; Taylor, Robert W; Nascimento, Andrés et al. (2018) Retrospective natural history of thymidine kinase 2 deficiency. J Med Genet 55:515-521
Kleiner, Giulio; Barca, Emanuele; Ziosi, Marcello et al. (2018) CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway. Biochim Biophys Acta Mol Basis Dis 1864:3708-3722
Siegmund, Stephanie E; Grassucci, Robert; Carter, Stephen D et al. (2018) Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography. iScience 6:83-91
Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge et al. (2018) Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83:1133-1146
Lopez-Gomez, Carlos; Levy, Rebecca J; Sanchez-Quintero, Maria J et al. (2017) Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. Ann Neurol 81:641-652
Siegmund, Stephanie E; Yang, Hua; Sharma, Rohit et al. (2017) Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome. Hum Mol Genet 26:4588-4605

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