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Charles P. Venditti, M.D., Ph.D.

Senior Investigator, Genetics and Molecular Biology Branch
Head, Organic Acid Research Section

Selected Publications

Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab, 86(1-2):34-43. 2005. [PubMed]

Chandler RC, Aswani V, Tsai M, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP. Propionyl-CoA and Adenosylcobalamin Metabolism in C elegans: Evidence for a Role of Methylmalonyl-CoA Epimerase in Intermediary Metabolism. Mol Genet Metab, 89(1-2) 64-73. 2006. [PubMed]

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet, 8:64. 2007. [PubMed]

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J, 23(4):1252-61. 2009. [PubMed]

Bassim CW, Wright JT, Guadagnini JP, Muralidharan R, Sloan J, Domingo DL, Venditti CP, Hart TC. Enamel defects and salivary methylmalonate in methylmalonic acidemia. Oral Dis, 15(3):196-205. 2009. [PubMed]

Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A and Venditti CP. Hydroxycobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis, 32:728-731. 2009. [PubMed]

Chandler RJ, Venditti CP. Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. Mol Ther, 18(1):11-6. 2010. [PubMed]

Murphy GE, Lowekamp BC, Zerfas PM, Chandler RJ, Narasimha R, Venditti CP, Subramaniam S. Ion abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia. J Struct Biol, 171(2):125-132. [PubMed]

Carrillo-Carrasco N, Chandler RJ, Chandrasekaran S, Venditti CP. Liver-directed rAAV gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction. Hum Gene Ther, 21:1147-1154, 2010. [PubMed]

Chandler RJ, Chandrasekaran S, Carrillo-Carrasco N, Senac JS, Hoferr SE, Barry MA, and Venditti CP. Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia. Hum Gene Ther, 22(4):477-81. 2011. [PubMed]

Hauser NS, Manoli, I, Graf JC, Sloan J, and Venditti CP. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr, 93(1):47-56. 2011 [PubMed]

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause K, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NISC, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, and Venditti CP. Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria. Nat Genet, 43(9):883-6. [PubMed]

Sénac JS, Chandler RJ, Sysol JR, Li L, and Venditti CP. Gene therapy in a murine model of Methylmalonic Acidemia (MMA) using rAAV9 mediated gene delivery. Gene Ther, 19(4):385-91. 2012. [PubMed]

Carrillo-Carrasco N, Chandler RJ, and Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type I Clinical presentations, diagnosis and management. J Inherit Metab Dis, 35(1):91-102. 2012. [PubMed]

Carrillo-Carrasco N and Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type II Complications, pathophysiology and outcomes. J Inherit Metab Dis, 35(1):103-14. 2012. [PubMed]

O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, and Snow J. Neurocognitive Phenotype of Isolated Methylmalonic Acidemia (MMA). Pediatrics, 29(6):e1541-51. 2012. [PubMed]

Kruszka PS, Manoli I, Sloan JL, Kopp JB, and Venditti CP. Renal growth in isolated methylmalonic acidemia. Genet Med, 15(12):990-6. 2013. [PubMed]

Manoli I, Sysol J, Li L, Houillier P, Wang C, Zerfas P, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahlooun AG, Rosen S, Enns GM, Berry GT, Hoffman V, DiMauro S, Schnermann J, and Venditti CP. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci USA, 110(33):13552-7. 2013. [PubMed]

Yu HC, Sloan JL, Scharer G, Brebner A, Quintana,A, Achilly NP, Manoli I, Coughlin CRII, Geiger EA, Schneck U, Watkins D, VanHove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, and Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Gen, 93(3):506-514. 2013. [PubMed]


Venditti CP. Methylmalonic acidemia. In: GeneReviews at GeneTests, Unversity of Washington, Seattle: Medical Genetics Information Resource, 2005. [Full Text]

Adams D, Venditti CP. Disorders of intracellular cobalamin metabolism. In: GeneReviews at GeneTests, Unversity of Washington, Seattle: Medical Genetics Information Resource, 2008. [Full Text]

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Last Updated: March 6, 2015