Charles P. Venditti - Publications, H-index & Citations

Charles P. Venditti

national institutes of health

48H指数

191论文数

6.7K被引数

收录论文 75

发表时间

Journal of Inherited Metabolic Disease

IF3.8

2026-09-06

PREAI

Karolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli

Non-Invasive Tracking of rAAV-Mediated Gene Expression in the Liver through a Genetically Encoded MRI Reporter Gene 通过遗传编码的MRI报告基因对肝脏中rAAV介导的基因表达进行无创跟踪

Molecular Therapy

IF12

2025-11-12

PREAI

Zinia Mohanta; Aruna Singh; Hernando Lopez Bertoni; Sophie Sall; Julia Stabinska; Irini Manoli; Hilary Vernon; Charles P. Venditti; Assaf A. Gilad; Michael T. McMahon

Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia 解析线粒体BCAT抑制在甲基丙二酸血症中的效应

JCI INSIGHT

IF6.1

2025-09-09

OAAI

Hemmingsen, Madeline G.; Zhang, Guo-Fang; Ma, Yunhan; Marchuk, Hannah; Patel, Kalyani R.; Chen, Tong; Li, Xinning; Chapman, Mark; Collias, Sabrina; Lopez-Terrada, Dolores H.; Beasley, James; Stiles, Ashlee R.; Chandler, Randy J.; Venditti, Charles P.; Young, Sarah P.; Barzi, Mercedes; Bissig-Choisat, Beatrice; Krafte, Doug; Newgard, Christopher B.; Bissig, Karl-Dimiter

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism 缬氨酸和异亮氨酸氧化代谢重排增加了斑马鱼模型中丙酰辅酶A代谢障碍的生存率

Human Molecular Genetics

IF3.2

2025-07-06

PREAI

Sungkook Hong; Joel Pardo; PamelaSara E Head; Katharine T Ellis; Madeline L Arnold; Nathan P Achilly; Blake Carrington; Kevin Bishop; Raman Sood; Lisa Kratz; Jennifer L Sloan; Oleg A Shchelochkov; Charles P Venditti

MARKERS OF ANDROGEN DEFICIENCY IN PATIENTS WITH CHRONIC SPINAL CORD INJURY: DEVELOPMENT OF A PREDICTIVE NOMOGRAM 慢性脊髓损伤患者雄激素缺乏的标志物：预测诺模图的开发

JOURNAL OF SEXUAL MEDICINE

IF3.3

2025-05-09

PREAI

Spagnolo, L.; Palazzi, S.; Ferranti, A.; Venditti, C.; Totaro, M.; Tienforti, D.; Barbonetti, A.

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-01

PREAI

Shchelochkov, Oleg A.; Davies, Huw; Mohney, Robert P.; Hatch, Ace; Birch, Owen; Ferry, Susan; Van Ryzin, Carol; Hall, Camryn; Mccoy, Samantha; Vockley, Jerry; Kuo, Mickey J. M.; Manoli, Irini; Sloan, Jennifer L.; Venditti, Charles P.

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1 Niemann-Pick病C1型患者中AAV2和AAV9中和抗体的流行率

gene therapy

IF4

2025-02-27

PREAI

Mylvara, Avani V.; Davidson, Cristin D.; Alexander, Derek; Venditti, Charles P.; Porter, Forbes D.

A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-01

PREAI

Kulkarni, Akhil; Han, Tae-Un; Head, Pamela; Berhe, Bahafta A.; Chen, Tiffany C.; Venditti, Charles; Sidransky, Ellen

Hydroxocobalamin dose intensification improves ocular, neurological and biochemical outcomes in CBLC deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-01

PREAI

Sloan, Jennifer; Zein, Wadih; Thurm, Audrey; Hall, Camryn; Van Ryzin, Carol; Ferry, Susan; Gebremariam, Abigael; Myles, Jennifer; Huryn, Laryssa; Brooks, Brian; Manoli, Irini; Venditti, Charles

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

JCI INSIGHT

IF6.1

2024-02-22

OAAI

Manoli, Irini; Sysol, Justin R.; Head, PamelaSara E.; Epping, Madeline W.; Gavrilova, Oksana; Crocker, Melissa K.; Sloan, Jennifer L.; Koutsoukos, Stefanos A.; Wang, Cindy; Ktena, Yiouli P.; Mendelson, Sophia; Pass, Alexandra R.; Zerfas, Patricia M.; Hoffmann, Victoria; Vernon, Hilary J.; Fletcher, Laura A.; Reynolds, James C.; Tsokos, Maria G.; Stratakis, Constantine A.; Voss, Stephan D.; Chen, Kong Y.; Brown, Rebecca J.; Hamosh, Ada; Berry, Gerard T.; Chen, Xiaoyuan Shawn; Yanovski, Jack A.; Venditti, Charles P.

Assessment of a novel gene therapy strategy for neuronopathic Gaucher disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-01

PREAI

Kulkarni, Akhil; Han, Tae Un; Head, Pamela; Berhe, Bahafta A.; Chen, Tiffany C.; Venditti, Charles; Sidransky, Ellen

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology

MOLECULAR PSYCHIATRY

IF10.1

2024-01-11

OAAI

Shchelochkov, Oleg A.; Farmer, Cristan A.; Chlebowski, Colby; Adedipe, Dee; Ferry, Susan; Manoli, Irini; Pass, Alexandra; Mccoy, Samantha; Van Ryzin, Carol; Sloan, Jennifer; Thurm, Audrey; Venditti, Charles P.

Anaplerosis in action

NATURE METABOLISM

IF20.8

2023-01-26

OAAI

Head, PamelaSara E.; Venditti, Charles P.

Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-09-01

OAAI

Venturoni, Leah E.; Chandler, Randy J.; Liao, Jing; Hoffmann, Victoria; Ramesh, Nikhil; Gordo, Susana; Chau, Nelson; Venditti, Charles P.

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2022-05-25

OAAI

Head, PamelaSara E.; Myung, Sangho; Chen, Yong; Schneller, Jessica L.; Wang, Cindy; Duncan, Nicholas; Hoffman, Pauline; Chang, David; Gebremariam, Abigael; Gucek, Marjan; Manoli, Irini; Venditti, Charles P.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

BRAIN

IF11.7

2022-02-01

OAAI

Sumathipala, Dulika; Stromme, Petter; Fattahi, Zohreh; Luders, Torben; Sheng, Ying; Kahrizi, Kimia; Einarsen, Ingunn Holm; Sloan, Jennifer L.; Najmabadi, Hossein; van den Heuvel, Lambert; Wevers, Ron A.; Guerrero-Castillo, Sergio; Morkrid, Lars; Valayannopoulos, Vassili; Backe, Paul Hoff; Venditti, Charles P.; van Karnebeek, Clara D.; Nilsen, Hilde; Frengen, Eirik; Misceo, Doriana

1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) (Apr, 10.1038/s41436-021-01143-8, 2021)

GENETICS IN MEDICINE

IF6.2

2021-11-01

OAAI

Manoli, Irini; Pass, Alexandra R.; Harrington, Elizabeth A.; Sloan, Jennifer L.; Gagne, Jack; McCoy, Samantha; Bell, Sarah L.; Hattenbach, Jacob D.; Leitner, Brooks P.; Duckworth, Courtney J.; Fletcher, Laura A.; Cassimatis, Thomas M.; Galarreta, Carolina I.; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A.; Chen, Kong Y.; Venditti, Charles P.

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice

LIFE SCIENCE ALLIANCE

IF2.9

2021-08-18

OAAI

Davidson, Cristin D.; Gibson, Alana L.; Gu, Tansy; Baxter, Laura L.; Deverman, Benjamin E.; Beadle, Keith; Incao, Arturo A.; Rodriguez-Gil, Jorge L.; Fujiwara, Hideji; Jiang, Xuntian; Chandler, Randy J.; Ory, Daniel S.; Gradinaru, Viviana; Venditti, Charles P.; Pavan, William J.

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

GENETICS IN MEDICINE

IF6.2

2021-08-01

OAAI

Shchelochkov, Oleg A.; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L.; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph; Chlebowski, Colby; Thurm, Audrey; Kopp, Jeffrey B.; Chen, Kong Y.; Venditti, Charles P.

1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

GENETICS IN MEDICINE

IF6.2

2021-08-01

OAAI

研究方向