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.
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 |
Pera, Marta; Larrea, Delfina; Guardia-Laguarta, Cristina et al. (2017) Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease. EMBO J 36:3356-3371 |
Quinzii, Catarina M; Luna-Sanchez, Marta; Ziosi, Marcello et al. (2017) The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency. Front Physiol 8:525 |
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