Hasan O. Akman - Publications, H-index & Citations

Hasan O. Akman

Columbia University

38H指数

121论文数

3.9K被引数

收录论文 37

发表时间

CDK12 regulates cellular metabolism to promote glioblastoma growth CDK12 调节细胞代谢以促进胶质母细胞瘤生长

JCI INSIGHT

IF6.1

2025-11-10

OAAI

Mun, Jeong-Yeon; Shu, Chang; Gao, Qiuqiang; Zhu, Zhe; Akman, Hasan O.; Westhoff, Mike-Andrew; Karpel-Massler, Georg; Siegelin, Markus D.

CDK12 INHIBITION SYNERGIZES WITH TEMOZOLOMIDE TO EFFECTIVELY ERADICATE GLIOBLASTOMA CDK12抑制与替莫唑胺协同作用，可有效清除胶质母细胞瘤

NEURO-ONCOLOGY

IF13.4

2025-11-01

OAAI

Mun, Jeongyeon; Shu, Chang; Gao, Qiuqiang; Akman, Hasan O.; Westhoff, Mike-Andrew; Karpel-Massler, Georg; Siegelin, Markus

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells 靶向成人聚葡萄糖体病中一种致病性内含子变异的剪接调控反义寡核苷酸，能够纠正错剪接并在患者细胞中恢复酶活性。

NUCLEIC ACIDS RESEARCH

IF13.1

2025-07-22

OAAI

Thomas, Ria; Miyoshi, Emily; Akman, Hasan O.; Storz, Sophie H. R.; Goffena, Joy; Pytte, Julia; Miller, Danny E.; Skourti-Stathaki, Konstantina; Crooke, Stanley T.

Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease

CELL DEATH & DISEASE

IF9.6

2024-06-10

OAAI

Morcillo, Patricia; Kabra, Khushbu; Velasco, Kevin; Cordero, Hector; Jennings, Sarah; Yun, Taekyung D.; Larrea, Delfina; Akman, H. Orhan; Schon, Eric A.

OGDH and Bcl-xL loss causes synthetic lethality in glioblastoma

JCI INSIGHT

IF6.1

2024-03-14

OAAI

Nguyen, Trang T. T.; Torrini, Consuelo; Shang, Enyuan; Shu, Chang; Mun, Jeong-Yeon; Gao, Qiuqiang; Humala, Nelson; Akman, Hasan O.; Zhang, Guoan; Westhoff, Mike-Andrew; Karpel-Massler, Georg; Bruce, Jeffrey N.; Canoll, Peter; Siegelin, Markus D.

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-01

PREAI

Koch, Rebecca L.; Soler-Alfonso, Claudia; Kiely, Bridget T.; Asai, Akihiro; Smith, Ariana L.; Bali, Deeksha S.; Kang, Peter B.; Landstrom, Andrew P.; Akman, H. Orhan; Burrow, T. Andrew; Orthmann-Murphy, Jennifer L.; Goldman, Deberah S.; Pendyal, Surekha; El-Gharbawy, Areeg H.; Austin, Stephanie L.; Case, Laura E.; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S.

Aurora kinase A inhibition reverses the Warburg effect and elicits unique metabolic vulnerabilities in glioblastoma

NATURE COMMUNICATIONS

IF15.7

2021-09-01

OAAI

Nguyen, Trang T. T.; Shang, Enyuan; Shu, Chang; Kim, Sungsoo; Mela, Angeliki; Humala, Nelson; Mahajan, Aayushi; Yang, Hee Won; Akman, Hasan Orhan; Quinzii, Catarina M.; Zhang, Guoan; Westhoff, Mike-Andrew; Karpel-Massler, Georg; Bruce, Jeffrey N.; Canoll, Peter; Siegelin, Markus D.

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency

ANNALS OF NEUROLOGY

IF7.7

2021-08-13

OAAI

Lopez-Gomez, Carlos; Sanchez-Quintero, Maria J.; Lee, Eung Jeon; Kleiner, Gulio; Tadesse, Saba; Xie, Jun; Akman, Hasan Orhan; Gao, Guangping; Hirano, Michio

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-10-09

OAAI

Chown, Erin E.; Wang, Peixiang; Zhao, Xiaochu; Crowder, Justin J.; Strober, Jordan W.; Sullivan, Mitchell A.; Xue, Yunlin; Bennett, Cody S.; Perri, Ami M.; Evers, Bret M.; Roach, Peter J.; Depaoli-Roach, Anna A.; Akman, H. Orhan; Pederson, Bartholomew A.; Minassian, Berge A.

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency

EBIOMEDICINE

IF10.8

2019-08-01

OAAI

Lopez-Gomez, Carlos; Hewan, Henly; Sierra, Carlos; Akman, Hasan O.; Sanchez-Quintero, Maria J.; Juanola-Falgarona, Marti; Tadesse, Saba; Tanji, Kurenai; Konofagou, Elisa E.; Hirano, Michio

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

HUMAN MOLECULAR GENETICS

IF3.2

2019-01-11

OAAI

Larrea, Delfina; Pera, Marta; Gonnelli, Adriano; Quintana-Cabrera, Ruben; Akman, H. Orhan; Guardia-Laguarta, Cristina; Velasco, Kevin R.; Area-Gomez, Estela; Dal Bello, Federica; De Stefani, Diego; Horvath, Rita; Shy, Michael E.; Schon, Eric A.; Giacomello, Marta

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

NEUROLOGY

IF8.5

2018-09-11

PREAI

Vissing, John; Akman, H. Orhan; Aasly, Jan; Kahler, Stephen G.; Bacino, Carlos A.; DiMauro, Salvatore; Haller, Ronald G.

Guaiacol as a drug candidate for treating adult polyglucosan body disease

JCI INSIGHT

IF6.1

2018-09-06

OAAI

Kakhlon, Or; Ferreira, Igor; Solmesky, Leonardo J.; Khazanov, Netaly; Lossos, Alexander; Alvarez, Rafael; Yetil, Deniz; Pampou, Sergey; Weil, Miguel; Senderowitz, Hanoch; Escriba, Pablo; Yue, Wyatt W.; Akman, H. Orhan

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis USMG5 Ashkenazi犹太创始人突变损害线粒体复合物V二聚化和ATP合成

HUMAN MOLECULAR GENETICS

IF3.2

2018-06-18

OAAI

Barca, Emanuele; Ganetzky, Rebecca D.; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O.; Chung, Wendy K.; Tanji, Kurenai; McCormick, Elizabeth M.; Place, Emily; Consugar, Mark; Pierce, Eric A.; Hakonarson, Hakon; Wallace, Douglas C.; Hirano, Michio; Falk, Mami J.

A novel mouse model that recapitulates adult-onset glycogenosis type 4

HUMAN MOLECULAR GENETICS

IF3.2

2015-09-18

OAAI

Akman, H. Orhan; Emmanuele, Valentina; Kurt, Yasemin Gulcan; Kurt, Bulent; Sheiko, Tatiana; DiMauro, Salvatore; Craigen, William J.

A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

ANNALS OF NEUROLOGY

IF7.7

2014-10-31

OAAI

Malfatti, Edoardo; Nilsson, Johanna; Hedberg-Oldfors, Carola; Hernandez-Lain, Aurelio; Michel, Fabrice; Dominguez-Gonzalez, Cristina; Viennet, Gabriel; Akman, H. Orhan; Kornblum, Cornelia; Van den Bergh, Peter; Romero, Norma B.; Engel, Andrew G.; DiMauro, Salvatore; Oldfors, Anders

Fhl1 W122S causes loss of protein function and late-onset mild myopathy

HUMAN MOLECULAR GENETICS

IF3.2

2014-09-30

OAAI

Emmanuele, Valentina; Kubota, Akatsuki; Garcia-Diaz, Beatriz; Garone, Caterina; Akman, Hasan O.; Sanchez-Gutierrez, Daniel; Escudero, Luis M.; Kariya, Shingo; Homma, Shunichi; Tanji, Kurenai; Quinzii, Catarina M.; Hirano, Michio

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

EMBO MOLECULAR MEDICINE

IF8.3

2014-06-26

OAAI

Garone, Caterina; Garcia-Diaz, Beatriz; Emmanuele, Valentina; Lopez, Luis C.; Tadesse, Saba; Akman, Hasan O.; Tanji, Kurenai; Quinzii, Catarina M.; Hirano, Michio

Polyglucosan Body Myopathy Caused by Defective Ubiquitin Ligase RBCK1

ANNALS OF NEUROLOGY

IF7.7

2014-01-21

119

PREAI

Nilsson, Johanna; Schoser, Benedikt; Laforet, Pascal; Kalev, Ognian; Lindberg, Christopher; Romero, Norma B.; Lopez, Marcela Davila; Akman, Hasan O.; Wahbi, Karim; Iglseder, Stephan; Eggers, Christian; Engel, Andrew G.; DiMauro, Salvatore; Oldfors, Anders

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-11-01

OAAI

Hildick-Smith, Gordon J.; Cooney, Jeffrey D.; Garone, Caterina; Kremer, Laura S.; Haack, Tobias B.; Thon, Jonathan N.; Miyata, Non; Lieber, Daniel S.; Calvo, Sarah E.; Akman, H. Orhan; Yien, Yvette Y.; Huston, Nicholas C.; Branco, Diana S.; Shah, Dhvanit I.; Freedman, Matthew L.; Koehler, Carla M.; Italiano, Joseph E., Jr.; Merkenschlager, Andreas; Beblo, Skadi; Strom, Tim M.; Meitinger, Thomas; Freisinger, Peter; Donati, M. Alice; Prokisch, Holger; Mootha, Vamsi K.; DiMauro, Salvatore; Paw, Barry H.

研究方向