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1.

Gene therapy for glycogen storage diseases.

Koeberl, Dwight D; Koch, Rebecca L; Lim, Jeong-A; Brooks, Elizabeth D; Arnson, Benjamin D; Sun, Baodong; Kishnani, Priya S.

J Inherit Metab Dis; 47(1): 93-118, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37421310

2.

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Smith, Edward C; Hopkins, Sam; Case, Laura E; Xu, Ming; Walters, Crista; Dearmey, Stephanie; Han, Sang-Oh; Spears, Tracy G; Chichester, Jessica A; Bossen, Edward H; Hornik, Christoph P; Cohen, Jennifer L; Bali, Deeksha; Kishnani, Priya S; Koeberl, Dwight D.

Mol Ther; 31(7): 1994-2004, 2023 07 05.

Artículo en Inglés | MEDLINE | ID: mdl-36805083

3.

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.

Lekstrom-Himes, Julie; Brooks, P J; Koeberl, Dwight D; Brower, Amy; Goldenberg, Aaron; Green, Robert C; Morris, Jill A; Orsini, Joseph J; Yu, Timothy W; Augustine, Erika F.

Am J Med Genet C Semin Med Genet; 193(1): 30-43, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36738469

4.

Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease.

Choi, Su Jin; Yi, John S; Lim, Jeong-A; Tedder, Thomas F; Koeberl, Dwight D; Jeck, William; Desai, Ankit K; Rosenberg, Amy; Sun, Baodong; Kishnani, Priya S.

J Gene Med; 25(8): e3509, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-36994804

5.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Lasio, M Laura Duque; Leshinski, Angela C; Ducich, Nicole H; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B; Hainline, Bryan E; Basinger, Alice A; Wilson, William G; Diaz, George A; Erbe, Richard W; Koeberl, Dwight D; Vockley, Jerry; Bedoyan, Jirair K.

Mol Genet Metab; 139(2): 107605, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-37207470

6.

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.

Yavarow, Zollie A; Kang, Hye-Ri; Waskowicz, Lauren R; Bay, Boon-Huat; Young, Sarah P; Yen, Paul M; Koeberl, Dwight D.

Hum Mol Genet; 29(2): 286-294, 2020 01 15.

Artículo en Inglés | MEDLINE | ID: mdl-31816064

7.

Gene therapy for glycogen storage diseases.

Kishnani, Priya S; Sun, Baodong; Koeberl, Dwight D.

Hum Mol Genet; 28(R1): R31-R41, 2019 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-31227835

8.

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Waskowicz, Lauren R; Zhou, Jin; Landau, Dustin J; Brooks, Elizabeth D; Lim, Andrea; Yavarow, Zollie A; Kudo, Tsubasa; Zhang, Haoyue; Wu, Yajun; Grant, Stuart; Young, Sarah P; Huat, Bay Boon; Yen, Paul M; Koeberl, Dwight D.

Hum Mol Genet; 28(1): 143-154, 2019 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-30256948

9.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M.

Am J Hum Genet; 103(2): 245-260, 2018 08 02.

Artículo en Inglés | MEDLINE | ID: mdl-30057031

10.

Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Farah, Benjamin L; Yen, Paul M; Koeberl, Dwight D.

Mol Genet Metab; 129(1): 3-12, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31787497

11.

Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

Han, Sang-Oh; Haynes, Alexina C; Li, Songtao; Abraham, Dennis M; Kishnani, Priya S; Steet, Richard; Koeberl, Dwight D.

Mol Genet Metab; 129(2): 73-79, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31645300

12.

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Stiles, Ashlee R; Zhang, Haoyue; Dai, Jian; McCaw, Patricia; Beasley, James; Rehder, Catherine; Koeberl, Dwight D; McDonald, Marie; Bali, Deeksha S; Young, Sarah P.

Mol Genet Metab; 130(3): 209-214, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32418857

13.

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

Koeberl, Dwight D; Case, Laura E; Desai, Ankit; Smith, Edward C; Walters, Crista; Han, Sang-Oh; Thurberg, Beth L; Young, Sarah P; Bali, Deeksha; Kishnani, Priya S.

Mol Genet Metab; 129(2): 67-72, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31839530

14.

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Koeberl, Dwight D; Case, Laura E; Smith, Edward C; Walters, Crista; Han, Sang-Oh; Li, Yanzhen; Chen, Wei; Hornik, Christoph P; Huffman, Kim M; Kraus, William E; Thurberg, Beth L; Corcoran, David L; Bali, Deeksha; Bursac, Nenad; Kishnani, Priya S.

Mol Ther; 26(9): 2304-2314, 2018 09 05.

Artículo en Inglés | MEDLINE | ID: mdl-30025991

15.

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Peña, Loren D M; Burrage, Lindsay C; Enns, Gregory M; Esplin, Edward D; Harding, Cary; Mendell, Jerry R; Niu, Zhiyv Neal; Scharfe, Curt; Yu, Timothy; Koeberl, Dwight D.

Genet Med; 25(6): 100831, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-37031408

16.

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.

Brooks, Elizabeth D; Landau, Dustin J; Everitt, Jeffrey I; Brown, Talmage T; Grady, Kylie M; Waskowicz, Lauren; Bass, Cameron R; D'Angelo, John; Asfaw, Yohannes G; Williams, Kyha; Kishnani, Priya S; Koeberl, Dwight D.

J Inherit Metab Dis; 41(6): 965-976, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30043186

17.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun, Theodora U J; Sidky, Sarah; Bandeira, Anabela O; Debray, Francoise-Guillaume; Ficicioglu, Can; Goldstein, Jennifer; Joost, Kairit; Koeberl, Dwight D; Luísa, Diogo; Nassogne, Marie-Cecile; O'Sullivan, Siobhan; Õunap, Katrin; Schulze, Andreas; van Maldergem, Lionel; Salomons, Gajja S; Mercimek-Andrews, Saadet.

Metab Brain Dis; 33(3): 875-884, 2018 06.

Artículo en Inglés | MEDLINE | ID: mdl-29435807

18.

Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.

Farah, Benjamin L; Landau, Dustin J; Wu, Yajun; Sinha, Rohit A; Loh, Alwin; Bay, Boon-Huat; Koeberl, Dwight D; Yen, Paul M.

Mol Genet Metab; 122(3): 95-98, 2017 11.

Artículo en Inglés | MEDLINE | ID: mdl-28888852

19.

A natural choice for hemophilia B.

Koeberl, Dwight D.

Blood; 125(10): 1509-10, 2015 Mar 05.

Artículo en Inglés | MEDLINE | ID: mdl-25745178

20.

In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.

Landau, Dustin J; Brooks, Elizabeth Drake; Perez-Pinera, Pablo; Amarasekara, Hiruni; Mefferd, Adam; Li, Songtao; Bird, Andrew; Gersbach, Charles A; Koeberl, Dwight D.

Mol Ther; 24(4): 697-706, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26865405

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Gene therapy for glycogen storage diseases.

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.

Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.

Gene therapy for glycogen storage diseases.

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

IRF2BPL Is Associated with Neurological Phenotypes.

Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.

A natural choice for hemophilia B.

In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.