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Items: 1 to 20 of 48

1.
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Suzanne Marie G. Carmona, Mary Ann R. Abacan, Maria Melanie Liberty B. Alcausin
Int J Neonatal Screen. 2023 Mar; 9(1): 4. Published online 2023 Jan 11. doi: 10.3390/ijns9010004
PMCID:
PMC9844480
AbstractArticlePDF–369K
2.
Late-Onset Carnitine–Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy
Min Chen, Yao Cai, Sitao Li, Hui Xiong, Mengxian Liu, Fei Ma, Xin Xiao, Hu Hao
Front Pediatr. 2020; 8: 585646. Published online 2020 Oct 30. doi: 10.3389/fped.2020.585646
PMCID:
PMC7661852
AbstractArticlePDF–1.6M
3.
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review
Hui-ming Yan, Hao Hu, Aisha Ahmed, Bing-bing Feng, Jing Liu, Zheng-jun Jia, Hua Wang
Medicine (Baltimore) 2017 Nov; 96(45): e8549. Published online 2017 Nov 10. doi: 10.1097/MD.0000000000008549
PMCID:
PMC5690761
AbstractArticlePDF–578K
4.
Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature
Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, María Bueno, Pilar Quijada-Fraile, Jaime Dalmau, Sofia Molina-Marrero, Belén Pérez, Begoña Merinero
JIMD Rep. 2015; 20: 11–20. Published online 2015 Jan 23. doi: 10.1007/8904_2014_382
PMCID:
PMC4375124
AbstractArticlePDF–221K
5.
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency
Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, Mihaela Damian, Gregory M. Enns
JIMD Rep. 2018; 39: 19–23. Published online 2017 Jul 9. doi: 10.1007/8904_2017_36
PMCID:
PMC5953892
AbstractArticlePDF–234K
6.
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency
Xiaoli Li, Jian Shen
Front Pediatr. 2022; 10: 1029004. Published online 2022 Nov 7. doi: 10.3389/fped.2022.1029004
PMCID:
PMC9676358
AbstractArticlePDF–496K
7.
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
S V Pande, M Brivet, A Slama, F Demaugre, C Aufrant, J M Saudubray
J Clin Invest. 1993 Mar; 91(3): 1247–1252. doi: 10.1172/JCI116288
PMCID:
PMC288085
SummaryPage BrowsePDF–1.2M
8.
Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity
Kelli C. Lund, Brian Scottoline, Brian K. Jordan
J Pediatr Genet. 2023 Jun; 12(2): 179–183. Published online 2021 Feb 17. doi: 10.1055/s-0041-1723960
PMCID:
PMC10118704
AbstractArticlePDF–688K
9.
Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report
Liya Zhang, Ying Hu, Min Xie, Yuxin Zhang, Kuankuan Cen, Lili Chen, Yingbo Cui, Haibo Li, Donge Wang
J Int Med Res. 2023 Apr; 51(4): 03000605231163811. Published online 2023 Apr 28. doi: 10.1177/03000605231163811
PMCID:
PMC10155003
AbstractArticlePDF–592K
10.
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity
Congcong Shi, Zhenzhen Ao, Bingqing Liu, Xin Xiao, Xia Gu, Qiuping Yang, Hu Hao, Yao Cai, Sitao Li
Transl Pediatr. 2023 May 30; 12(5): 871–881. Published online 2023 Apr 13. doi: 10.21037/tp-22-468
PMCID:
PMC10248924
AbstractArticlePDF–267K
11.
Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency
Anasufiza Habib, Muhammad Irfan Bukhari Ahmad Nazri, Salina Abdul Rahman
Data Brief. 2023 Jun; 48: 109090. Published online 2023 Mar 25. doi: 10.1016/j.dib.2023.109090
PMCID:
PMC10068550
AbstractArticlePDF–441K
12.
In Silico Analysis of the Structural Dynamics and Substrate Recognition Determinants of the Human Mitochondrial Carnitine/Acylcarnitine SLC25A20 Transporter
Andrea Pasquadibisceglie, Virginia Quadrotta, Fabio Polticelli
Int J Mol Sci. 2023 Feb; 24(4): 3946. Published online 2023 Feb 15. doi: 10.3390/ijms24043946
PMCID:
PMC9961348
AbstractArticlePDF–5.2M
13.
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
Fernando Scaglia, Angela E Scheuerle, Jeffrey A Towbin, Dawna L Armstrong, Lawrence Sweetman, Lee-Jun C Wong
BMC Pediatr. 2002; 2: 12. Published online 2002 Dec 30. doi: 10.1186/1471-2431-2-12
PMCID:
PMC140035
AbstractArticlePDF–498K
14.
The Conserved Tyr176/Leu177 Motif in the α-Helix 9 of the Feline Immunodeficiency Virus Capsid Protein Is Critical for Gag Particle Assembly
César A. Ovejero, Silvia A. González, José L. Affranchino
Viruses. 2019 Sep; 11(9): 816. Published online 2019 Sep 4. doi: 10.3390/v11090816
PMCID:
PMC6783973
AbstractArticlePDF–1.6M
15.
1H, 15N and 13C assignments of the dimeric C-terminal domain of HIV-1 capsid protein
Jinwon Jung, In-Ja L. Byeon, Jinwoo Ahn, Jason Concel, Angela M. Gronenborn
Biomol NMR Assign. Author manuscript; available in PMC 2012 Sep 22.
Published in final edited form as: Biomol NMR Assign. 2010 Apr; 4(1): 21–23. Published online 2009 Nov 18. doi: 10.1007/s12104-009-9198-9
PMCID:
PMC3448961
AbstractArticlePDF–472K
16.
Analysis of the Initiating Events in HIV-1 Particle Assembly and Genome Packaging
Sebla B. Kutluay, Paul D. Bieniasz
PLoS Pathog. 2010 Nov; 6(11): e1001200. Published online 2010 Nov 18. doi: 10.1371/journal.ppat.1001200
PMCID:
PMC2987827
AbstractArticlePDF–833K
17.
Antiviral activity of α-helical stapled peptides designed from the HIV-1 capsid dimerization domain
Hongtao Zhang, Francesca Curreli, Xihui Zhang, Shibani Bhattacharya, Abdul A Waheed, Alan Cooper, David Cowburn, Eric O Freed, Asim K Debnath
Retrovirology. 2011; 8: 28. Published online 2011 May 3. doi: 10.1186/1742-4690-8-28
PMCID:
PMC3097154
AbstractArticlePDF–2.8M
18.
Lentiviral Gag Assembly Analyzed through the Functional Characterization of Chimeric Simian Immunodeficiency Viruses Expressing Different Domains of the Feline Immunodeficiency Virus Capsid Protein
María J. Esteva, José L. Affranchino, Silvia A. González
PLoS One. 2014; 9(12): e114299. Published online 2014 Dec 2. doi: 10.1371/journal.pone.0114299
PMCID:
PMC4252113
AbstractArticlePDF–887K
19.
A Temporospatial Map That Defines Specific Steps at Which Critical Surfaces in the Gag MA and CA Domains Act during Immature HIV-1 Capsid Assembly in Cells
Bridget A. Robinson, Jonathan C. Reed, Clair D. Geary, J. Victor Swain, Jaisri R. Lingappa
J Virol. 2014 May; 88(10): 5718–5741. doi: 10.1128/JVI.03609-13
PMCID:
PMC4019110
AbstractArticlePDF–7.4M
20.
Ablation of Steroid Receptor Coactivator-3 resembles the human CACT metabolic myopathy
Brian York, Erin L. Reineke, Jørn V. Sagen, Bryan C. Nikolai, Suoling Zhou, Jean-Francois Louet, Atul R. Chopra, Xian Chen, Graham Reed, Jeffrey Noebels, Adekunle M. Adesina, Hui Yu, Lee-Jun C. Wong, Anna Tsimelzon, Susan Hilsenbeck, Robert D. Stevens, Brett R. Wenner, Olga Ilkayeva, Jianming Xu, Christopher B. Newgard, Bert W. O’Malley
Cell Metab. Author manuscript; available in PMC 2013 May 2.
Published in final edited form as: Cell Metab. 2012 May 2; 15(5): 752–763. doi: 10.1016/j.cmet.2012.03.020
PMCID:
PMC3349072
AbstractArticlePDF–1.9M

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