Pacak CA - Search Results

1

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB. Saha M, et al. Among authors: pacak ca. Hum Mol Genet. 2017 Aug 1;26(15):2984-3000. doi: 10.1093/hmg/ddx189. Hum Mol Genet. 2017. PMID: 28498977 Free PMC article.

2

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.

Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB. Draper I, et al. Among authors: pacak ca. Am J Pathol. 2014 Oct;184(10):2653-61. doi: 10.1016/j.ajpath.2014.06.018. Epub 2014 Aug 8. Am J Pathol. 2014. PMID: 25111228 Free PMC article.

3

Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents.

Liew WK, Pacak CA, Visyak N, Darras BT, Bousvaros A, Kang PB. Liew WK, et al. Among authors: pacak ca. J Pediatr. 2016 Nov;178:227-232. doi: 10.1016/j.jpeds.2016.07.040. Epub 2016 Aug 24. J Pediatr. 2016. PMID: 27567409

4

AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.

Suzuki-Hatano S, Saha M, Rizzo SA, Witko RL, Gosiker BJ, Ramanathan M, Soustek MS, Jones MD, Kang PB, Byrne BJ, Cade WT, Pacak CA. Suzuki-Hatano S, et al. Among authors: pacak ca. Hum Gene Ther. 2019 Feb;30(2):139-154. doi: 10.1089/hum.2018.020. Epub 2018 Oct 3. Hum Gene Ther. 2019. PMID: 30070157 Free PMC article.

5

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Saha M, et al. Among authors: pacak ca. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31. Physiol Genomics. 2018. PMID: 30345904 Free PMC article.

6

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Bruels CC, et al. Among authors: pacak ca. Mol Genet Genomic Med. 2019 Mar;7(3):e552. doi: 10.1002/mgg3.552. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30688039 Free PMC article.

7

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.

Suzuki-Hatano S, Saha M, Soustek MS, Kang PB, Byrne BJ, Cade WT, Pacak CA. Suzuki-Hatano S, et al. Among authors: pacak ca. Mol Ther Methods Clin Dev. 2019 Jan 25;13:167-179. doi: 10.1016/j.omtm.2019.01.007. eCollection 2019 Jun 14. Mol Ther Methods Clin Dev. 2019. PMID: 30788385 Free PMC article.

8

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.

Saha M, Rizzo SA, Ramanathan M, Hightower RM, Santostefano KE, Terada N, Finkel RS, Berg JS, Chahin N, Pacak CA, Wagner RE, Alexander MS, Draper I, Kang PB. Saha M, et al. Among authors: pacak ca. Hum Mol Genet. 2019 Jul 15;28(14):2365-2377. doi: 10.1093/hmg/ddz064. Hum Mol Genet. 2019. PMID: 31267131 Free PMC article.

9

Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.

Suzuki-Hatano S, Sriramvenugopal M, Ramanathan M, Soustek M, Byrne BJ, Cade WT, Kang PB, Pacak CA. Suzuki-Hatano S, et al. Among authors: pacak ca. Int J Mol Sci. 2019 Jul 11;20(14):3416. doi: 10.3390/ijms20143416. Int J Mol Sci. 2019. PMID: 31336787 Free PMC article.

10

The End of the Beginning: The Journey to Molecular Therapies for Spinal Muscular Atrophy.

Pacak CA, Kang PB. Pacak CA, et al. Pediatr Neurol. 2020 Jan;102:1-2. doi: 10.1016/j.pediatrneurol.2019.07.018. Epub 2019 Aug 6. Pediatr Neurol. 2020. PMID: 31481328 No abstract available.

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