A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation

Ikram Ullah; Muhammad Waqas; Muhammad Ilyas; Sobia Ahsan Halim; Akmal Ahmad; Natalia Dominik; Wahid Ullah; Muhammad Abbas; Muhammad Aamir; Henry Houlden; Stephanie Efthymiou; Ajmal Khan; Ahmed Al-Harrasi

doi:10.1016/j.gendis.2023.01.018

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A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation

Short communication | 更新时间：2024-02-04

- A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation
- Genes & Diseases Vol. 1, Issue 6, Pages: 2263-2266(2023)
- 作者机构：
  
  1. Centre for Omic Sciences, Islamia College University Peshawar,, Khyber Pakhtunkhwa,Peshawar,Pakistan,25120
  2. Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Dhodial,Pakistan,21120
  3. Natural and Medical Sciences Research Center, University of Nizwa, Nizwa 616, Sultanate of Oman
  4. Department of Bioengineering, University of Engineering and Applied Sciences, Swat, Khyber Pakhtunkhwa,Pakistan,19060
  5. Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2023.01.018
  CLC：
- Published：2023，
  
  Published Online：1 November 2023，
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Ikram Ullah, Muhammad Waqas, Muhammad Ilyas, et al. A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation. [J]. Genes & Diseases 1(6):2263-2266(2023)
DOI：

Ikram Ullah, Muhammad Waqas, Muhammad Ilyas, et al. A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation. [J]. Genes & Diseases 1(6):2263-2266(2023) DOI： 10.1016/j.gendis.2023.01.018.

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1 A.M. Bradbury, E.R. Bongarzone, M.S. SandsKrabbe disease: new hope for an old disease Neurosci Lett, 752 (2021), Article 135841

2 Y. Li, C.A. Miller, L.K. Shea, et al.Enhanced efficacy and increased long-term toxicity of CNS-directed, AAV-based combination therapy for Krabbe disease Mol Ther, 29 (2) (2021), pp. 691-701

3 N. Papini, C. Giallanza, L. Brioschi, et al.Galactocerebrosidase deficiency induces an increase in lactosylceramide content: a new hallmark of Krabbe disease? Int J Biochem Cell Biol, 145 (2022), Article 106184

4 D.A. Wenger, P. Luzi, M.A. RafiAdvances in the diagnosis and treatment of Krabbe disease Int J Neonatal Screen, 7 (3) (2021), p. 57

5 A.C.E. Graziano, V. CardileHistory, genetic, and recent advances on Krabbe disease Gene, 555 (1) (2015), pp. 2-13

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