My Bibliography

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Chauhan M, Daugherty A, Khadir F, Duzenli O, Hoffman A, Wan O, Tinklenberg J, Kang P, Aslanidi G, Pacak C. Design and initial characterization of a novel mini-promoter for gene therapies targeting the central nervous system. Molecular Therapy Advances. 2026 March; 34(1):201681-. doi: 10.1016/j.omta.2026.201681.

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Tinklenberg J, Sutton J, Slick R, Meng H, Haberman M, Prom M, Beatka M, Vetter T, Daugherty A, Pacak C, Gonzalez J, Lawlor M. The D2.B10-Dmd/J Mouse Model of Duchenne Muscular Dystrophy Exhibits a Severe Mitochondrial Deficiency Not Observed in the C57BL/10ScSn-Dmd/J Mouse. The American Journal of Pathology. 2026 February; 196(2):532-549. doi: 10.1016/j.ajpath.2025.09.005.

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Chauhan M, Daugherty AL, Khadir FE, Duzenli OF, Hoffman A, Wan O, Tinklenberg JA, Kang PB, Aslanidi G, Pacak CA. Design and initial characterization of a novel mini-promoter for gene therapies targeting the central nervous system. Mol Ther Adv. 2026 Mar 12;34(1):201681. doi: 10.1016/j.omta.2026.201681. eCollection 2026 Mar 12. PubMed PMID: 42137269; PubMed Central PMCID: PMC13148911.

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Venigalla S, Pacak C. When pullulanase needs a little push: MyoAAV capsids enhance gene therapy for GSD IIIa. Molecular Therapy Methods & Clinical Development. 2025 December; 33(4):101648-. doi: 10.1016/j.omtm.2025.101648.

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Venigalla S, Pacak CA. When pullulanase needs a little push: MyoAAV capsids enhance gene therapy for GSD IIIa. Mol Ther Methods Clin Dev. 2025 Dec 11;33(4):101648. doi: 10.1016/j.omtm.2025.101648. eCollection 2025 Dec 11. PubMed PMID: 41404411; PubMed Central PMCID: PMC12704279.

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Tinklenberg JA, Sutton J, Slick RA, Meng H, Haberman M, Prom MJ, Beatka MJ, Vetter TA, Daugherty AL, Pacak CA, Gonzalez JP, Lawlor MW. The D2.B10-Dmd(mdx)/J Mouse Model of Duchenne Muscular Dystrophy Exhibits a Severe Mitochondrial Deficiency Not Observed in the C57BL/10ScSn-Dmd(mdx)/J Mouse. Am J Pathol. 2026 Feb;196(2):532-549. doi: 10.1016/j.ajpath.2025.09.005. Epub 2025 Sep 30. PubMed PMID: 41038271; PubMed Central PMCID: PMC12881301.

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Littel HR, Gunasekaran M, Daugherty AL, Wells NM, Turner J, Bruels CC, Pacak CA, Draper I, Kang PB. The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells. FEBS Open Bio. 2026 Jan;16(1):178-198. doi: 10.1002/2211-5463.70117. Epub 2025 Sep 13. PubMed PMID: 40944391; PubMed Central PMCID: PMC12767766.

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Littel H, Gunasekaran M, Daugherty A, Wells N, Turner J, Bruels C, Pacak C, Draper I, Kang P. The impact of <i>Hnrnpl</i> deficiency on transcriptional patterns of developing muscle cells. FEBS Open Bio. 2025 September; 16(1):178-198. doi: 10.1002/2211-5463.70117.

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Gunasekaran M, Campos G, Wells NM, Lambuu K, Draper I, Pacak CA, Kang PB. ACSS2 involved in acetyl-CoA synthesis regulates skeletal muscle function. FEBS Lett. 2025 Oct;599(19):2817-2827. doi: 10.1002/1873-3468.70152. Epub 2025 Sep 12. PubMed PMID: 40936396; PubMed Central PMCID: PMC12519054.

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Gunasekaran M, Campos G, Wells N, Lambuu K, Draper I, Pacak C, Kang P. <scp>ACSS2</scp> involved in acetyl‐ <scp>CoA</scp> synthesis regulates skeletal muscle function. FEBS Letters. 2025 September; 599(19):2817-2827. doi: 10.1002/1873-3468.70152.

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Cade W, Bohnert K, Peterson L, Fuentes L, Poehlein E, Green C, Pacak C, Byrne B, Reeds D, Bashir A, Feingold B, Taylor C. Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. JIMD Reports. 2025 July; 66(4):-. doi: 10.1002/jmd2.70034.

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Cade WT, Bohnert KL, Peterson LR, Fuentes LL, Poehlein E, Green CL, Pacak CA, Byrne BJ, Reeds DN, Bashir A, Feingold B, Taylor C. Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. JIMD Rep. 2025 Jul;66(4):e70034. doi: 10.1002/jmd2.70034. eCollection 2025 Jul. PubMed PMID: 40626056; PubMed Central PMCID: PMC12230623.

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Duzenli OF, Aslanidi G. Consecutive Affinity and Ion-Exchange Chromatography for AAV9 Vectors Purification. Biomedicines. 2025 Feb 5;13(2). doi: 10.3390/biomedicines13020361. PubMed PMID: 40002774; PubMed Central PMCID: PMC11852678.

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Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA, Kang PB. Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development. FEBS J. 2025 Sep;292(18):4854-4869. doi: 10.1111/febs.17406. Epub 2025 Jan 16. PubMed PMID: 39823152; PubMed Central PMCID: PMC12264025.

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Tsai A, Suzuki-Hatano S, Pacak C. Viral vectors for gene therapy. In: Molecular Medical Microbiology [Internet] Elsevier; 2024. 2659-2679p. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780128186190000198.

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Piñeiro-Llanes J, Suzuki-Hatano S, Jain A, Venigalla S, Kamat M, Basso KB, Cade WT, Simmons CS, Pacak CA. Rescue of mitochondrial dysfunction through alteration of extracellular matrix composition in barth syndrome cardiac fibroblasts. Biomaterials. 2025 Apr;315:122922. doi: 10.1016/j.biomaterials.2024.122922. Epub 2024 Oct 26. PubMed PMID: 39509858; PubMed Central PMCID: PMC11625619.

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Chauhan M, Daugherty A, Khadir F, Duzenli O, Hoffman A, Tinklenberg J, Kang P, Aslanidi G, Pacak C. AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice. Journal of Translational Medicine. 2024 September; 22(1):-. doi: 10.1186/s12967-024-05599-5.

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Chauhan M, Daugherty AL, Khadir FE, Duzenli OF, Hoffman A, Tinklenberg JA, Kang PB, Aslanidi G, Pacak CA. AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice. J Transl Med. 2024 Sep 5;22(1):824. doi: 10.1186/s12967-024-05599-5. PubMed PMID: 39237935; PubMed Central PMCID: PMC11375878.

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Rajamani G, Stafki S, Daugherty A, Mantyh W, Littel H, Bruels C, Pacak C, Robbins P, Niedernhofer L, Abiona A, Giunti P, Mohammed S, Laugel V, Kang P. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurology Clinical Practice. 2024 August; 14(4):-. doi: 10.1212/CPJ.0000000000200309.

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Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB. Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. Muscle Nerve. 2024 Oct;70(4):843-850. doi: 10.1002/mus.28214. Epub 2024 Jul 28. PubMed PMID: 39072769; PubMed Central PMCID: PMC11469940.

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Collinge CW, Razzoli M, Mansk R, McGonigle S, Lamming DW, Pacak CA, van der Pluijm I, Niedernhofer L, Bartolomucci A. The mouse Social Frailty Index (mSFI): a novel behavioral assessment for impaired social functioning in aging mice. Geroscience. 2025 Feb;47(1):85-107. doi: 10.1007/s11357-024-01263-4. Epub 2024 Jul 11. PubMed PMID: 38987495; PubMed Central PMCID: PMC11872866.

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Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PubMed PMID: 38808024; PubMed Central PMCID: PMC11129329.

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Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Benito DN, Draper I, Bruels CC, Pacak CA, Kang PB. Effects of HMGCR deficiency on skeletal muscle development. bioRxiv. 2024 May 8;. doi: 10.1101/2024.05.06.591934. PubMed PMID: 38903061; PubMed Central PMCID: PMC11188090.

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Pacak C, Suzuki-Hatano S, Khadir F, Daugherty A, Sriramvenugopal M, Gosiker B, Kang P, Cade W. One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle. Journal of Translational Medicine. 2023 October; 21(1):-. doi: 10.1186/s12967-023-04626-1.

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Pacak CA, Suzuki-Hatano S, Khadir F, Daugherty AL, Sriramvenugopal M, Gosiker BJ, Kang PB, Cade WT. One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle. J Transl Med. 2023 Oct 24;21(1):748. doi: 10.1186/s12967-023-04626-1. PubMed PMID: 37875924; PubMed Central PMCID: PMC10598899.

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Tejero M, Duzenli OF, Caine C, Kuoch H, Aslanidi G. Bioengineered Hybrid Rep 2/6 Gene Improves Encapsulation of a Single-Stranded Expression Cassette into AAV6 Vectors. Genes (Basel). 2023 Sep 26;14(10). doi: 10.3390/genes14101866. PubMed PMID: 37895215; PubMed Central PMCID: PMC10606878.

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Schweitzer GG, Ditzenberger GL, Hughey CC, Finck BN, Martino MR, Pacak CA, Byrne BJ, Cade WT. Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome. PLoS One. 2023;18(8):e0290832. doi: 10.1371/journal.pone.0290832. eCollection 2023. PubMed PMID: 37651450; PubMed Central PMCID: PMC10470866.

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Schweitzer G, Ditzenberger G, Hughey C, Finck B, Martino M, Pacak C, Byrne B, Cade W. Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome. PLOS ONE. 2023-8-; 18(8):e0290832-. doi: 10.1371/journal.pone.0290832.

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Kuoch H, Krotova K, Graham ML, Brantly ML, Aslanidi G. Multiplexing AAV Serotype-Specific Neutralizing Antibodies in Preclinical Animal Models and Humans. Biomedicines. 2023 Feb 11;11(2). doi: 10.3390/biomedicines11020523. PubMed PMID: 36831059; PubMed Central PMCID: PMC9953293.

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Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. PubMed PMID: 36791574; PubMed Central PMCID: PMC10098370.

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Maguina M, Kang PB, Tsai AC, Pacak CA. Peripheral neuropathies associated with DNA repair disorders. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. Review. PubMed PMID: 36190439; PubMed Central PMCID: PMC10075233.

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Maguina M, Kang P, Tsai A, Pacak C. Peripheral neuropathies associated with <scp>DNA</scp> repair disorders. Muscle & Nerve. 2022 October; 67(2):101-110. doi: 10.1002/mus.27721.

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Piñeiro-Llanes J, Suzuki-Hatano S, Jain A, Pérez Medina VA, Cade WT, Pacak CA, Simmons CS. Matrix produced by diseased cardiac fibroblasts affects early myotube formation and function. Acta Biomater. 2022 Oct 15;152:100-112. doi: 10.1016/j.actbio.2022.08.060. Epub 2022 Aug 31. PubMed PMID: 36055608; PubMed Central PMCID: PMC10625442.

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Vargas-Franco D, Kalra R, Draper I, Pacak CA, Asakura A, Kang PB. The Notch signaling pathway in skeletal muscle health and disease. Muscle Nerve. 2022 Nov;66(5):530-544. doi: 10.1002/mus.27684. Epub 2022 Aug 15. Review. PubMed PMID: 35968817; PubMed Central PMCID: PMC9804383.

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Vargas‐Franco D, Kalra R, Draper I, Pacak C, Asakura A, Kang P. The Notch signaling pathway in skeletal muscle health and disease. Muscle & Nerve. 2022 August; 66(5):530-544. doi: 10.1002/mus.27684.

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Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23. PubMed PMID: 35734998; PubMed Central PMCID: PMC9380148.

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Shen L, Estrada A, Meurs K, Sleeper M, Vulpe C, Martyniuk C, Pacak C. A review of the underlying genetics and emerging therapies for canine cardiomyopathies. Journal of Veterinary Cardiology. 2022 April; 40:2-14. doi: 10.1016/j.jvc.2021.05.003.

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Bohnert KL, Ditzenberger G, Bittel AJ, de Las Fuentes L, Corti M, Pacak CA, Taylor C, Byrne BJ, Reeds DN, Cade WT. Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study. JIMD Rep. 2021 Nov;62(1):74-84. doi: 10.1002/jmd2.12244. eCollection 2021 Nov. PubMed PMID: 34765401; PubMed Central PMCID: PMC8574175.

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Tsai AC, Pacak CA. Bioprocessing of Human Mesenchymal Stem Cells: From Planar Culture to Microcarrier-Based Bioreactors. Bioengineering (Basel). 2021 Jul 7;8(7). doi: 10.3390/bioengineering8070096. Review. PubMed PMID: 34356203; PubMed Central PMCID: PMC8301102.

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Tsai A, Pacak C. Bioprocessing of Human Mesenchymal Stem Cells: From Planar Culture to Microcarrier-Based Bioreactors. Bioengineering. 2021 July; 8(7):96-. doi: 10.3390/bioengineering8070096.

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Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 Jun 3;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018. PubMed PMID: 34087166; PubMed Central PMCID: PMC8206378.

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Shen L, Estrada AH, Meurs KM, Sleeper M, Vulpe C, Martyniuk CJ, Pacak CA. A review of the underlying genetics and emerging therapies for canine cardiomyopathies. J Vet Cardiol. 2022 Apr;40:2-14. doi: 10.1016/j.jvc.2021.05.003. Epub 2021 May 21. Review. PubMed PMID: 34147413; PubMed Central PMCID: PMC8606013.

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Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. PubMed PMID: 33861953; PubMed Central PMCID: PMC8206160.

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Sriramvenugopal M, Pacak CA. Noninvasive Tracking of Implanted Cells: Superparamagnetic Iron Oxide Nanoparticles as a Long-Term, Multimodal Imaging Label. Methods Mol Biol. 2020;2126:167-175. doi: 10.1007/978-1-0716-0364-2_15. PubMed PMID: 32112388.

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Li C, Vargas-Franco D, Saha M, Davis RM, Manko KA, Draper I, Pacak CA, Kang PB. Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration. FEBS Open Bio. 2021 Jan;11(1):114-123. doi: 10.1002/2211-5463.13031. Epub 2020 Nov 26. PubMed PMID: 33159715; PubMed Central PMCID: PMC7780119.

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Cade WT, Bohnert KL, Bittel AJ, Chacko SJ, Patterson BW, Pacak CA, Byrne BJ, Vernon HJ, Reeds DN. Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome. Mol Genet Metab Rep. 2020 Dec;25:100675. doi: 10.1016/j.ymgmr.2020.100675. eCollection 2020 Dec. PubMed PMID: 33204638; PubMed Central PMCID: PMC7649643.

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Barton ER, Pacak CA, Stoppel WL, Kang PB. The ties that bind: functional clusters in limb-girdle muscular dystrophy. Skelet Muscle. 2020 Jul 29;10(1):22. doi: 10.1186/s13395-020-00240-7. Review. PubMed PMID: 32727611; PubMed Central PMCID: PMC7389686.

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Watanabe N, Kitada K, Santostefano KE, Yokoyama A, Waldrop SM, Heldermon CD, Tachibana D, Koyama M, Meacham AM, Pacak CA, Terada N. Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies. Cell Reprogram. 2020 Aug;22(4):179-188. doi: 10.1089/cell.2020.0012. Epub 2020 Jun 30. PubMed PMID: 32608992; PubMed Central PMCID: PMC7415881.

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Suzuki-Hatano S, Tsai AC, Daugherty A, Pacak CA. TMT Sample Preparation for Proteomics Facility Submission and Subsequent Data Analysis. J Vis Exp. 2020 Jun 8;(160). doi: 10.3791/60970. PubMed PMID: 32568242; PubMed Central PMCID: PMC7442215.

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Bolfer L, Estrada AH, Larkin C, Conlon TJ, Lourenco F, Taggart K, Suzuki-Hatano S, Pacak CA. Functional Consequences of PDK4 Deficiency in Doberman Pinscher Fibroblasts. Sci Rep. 2020 Mar 3;10(1):3930. doi: 10.1038/s41598-020-60879-6. PubMed PMID: 32127618; PubMed Central PMCID: PMC7054397.